Paediatrics- Cardio, Resp Flashcards

Question

Answer 1

* Progressively worsening shortness of breath * Signs of respiratory distress * Fast respiratory rate (tachypnoea) * Expiratory wheeze on auscultation heard throughout the chest * The chest can sound “tight” on auscultation, with reduced air entry A silent chest is an ominous sign. This is where the airways are so tight it is not possible for the child to move enough air through the airways to create a wheeze. This might be associated with reduce respiratory effort due to fatigue. A less experienced practitioner may think because there is no respiratory distress and no wheeze the child is not as unwell, however in reality this a silent chest is life threatening.

Answer 2

* **Supplementary oxygen** if required (i.e. oxygen saturations less than 94% or working hard) * **Bronchodilators** (e.g. salbutamol, ipratropium and magnesium sulphate) * **Steroids** to reduce airway inflammation: prednisone (orally) or hydrocortisone (intravenous) * **Antibiotics** only if a bacterial cause is suspected (e.g. amoxicillin or erythromycin) Bronchodilators are stepped up as required: * Inhaled or nebulised **salbutamol** (a beta-2 agonist) * Inhaled or nebulised **ipratropium bromide** (an anti-muscarinic) * IV **magnesium sulphate** * IV **aminophylline**

Answer 3

Mild cases can be managed as an outpatient with regular **salbutamol inhalers** via a spacer (e.g. 4-6 puffs every 4 hours).

Answer 4

1. Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours 2. Nebulisers with salbutamol / ipratropium bromide 3. Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days) 4. IV hydrocortisone 5. IV magnesium sulphate 6. IV salbutamol 7. IV aminophylline If you haven’t got control by this point the situation is very serious. Call an anaesthetist and the intensive care unit. They may need intubation and ventilation. This call should be made earlier to give the best chance of successfully intubating them before the airway becomes too constricted.

Answer 5

Once control is established: you can gradually work your way back down the ladder as they get better: * Review the child prior to the next dose of their bronchodilator. * Look for evidence of **cyanosis** (central or peripheral), **tracheal tug, subcostal recessions, hypoxia, tachypnoea or wheeze on auscultation.** * If they look well, consider stepping down the number and frequency of the intervention. * A typical step down regime of inhaled salbutamol is **10 puffs 2 hourly then 10 puffs 4 hourly then 6 puffs 4 hourly then 4 puffs 6 hourly.** Consider monitoring the serum potassium when on high doses of salbutamol as it causes potassium to be absorbed from the blood into the cells. It is also worth noting that salbutamol causes tachycardia and a tremor.

Answer 6

Generally, discharge can be considered when the child well on 6 puffs 4 hourly of salbutamol. They can be prescribed a reducing regime of salbutamol to continue at home, for example **6 puffs 4 hourly for 48 hours then 4 puffs 6 hourly for 48 hours then 2-4 puffs as required.** A few other steps to consider: * Finish the course of steroids if these were started (typically 3 days total) * Provide **safety-net information** about when to return to hospital or seek help * Provide an individualised written **asthma action plan**

Answer 7

* Episodic symptoms with intermittent exacerbations * **Diurnal variability,** typically worse at night and early morning * Dry cough with wheeze and shortness of breath * Typical triggers * A history of other atopic conditions such as eczema, hayfever and food allergies * Family history of asthma or atopy * Bilateral widespread “polyphonic” wheeze heard by a healthcare professional * Symptoms improve with **bronchodilators**

Answer 8

* Wheeze only related to coughs and colds, more suggestive of **viral induced wheeze** * Isolated or productive cough * Normal investigations * No response to treatment * Unilateral wheeze suggesting a focal lesion, inhaled foreign body or infection

Answer 9

* Dust (house dust mites) * Animals * Cold air * Exercise * Smoke * Food allergens (e.g. peanuts, shellfish or eggs)

Answer 10

There is no gold standard test or diagnostic criteria for **asthma.** A diagnosis is made clinically based on a typical history and examination. Children are usually not diagnosed with asthma until they are at least 2 to 3 years old. When there is a low probability of asthma and the child is symptomatic, consider referral to a specialist for diagnosis. When there is an intermediate or high probability of **asthma**, a trial of treatment can be implemented and if the treatment improves symptoms a diagnosis can be made. There are investigations that can be used where there is an intermediate probability of asthma or diagnostic doubt: * **Spirometry** with **reversibility testing** (in children aged over 5 years) * **Direct bronchial challenge test** with histamine or **methacholine** * **Fractional exhaled nitric oxide** (FeNO) * **Peak flow variability measured** by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks

Answer 11

1. Start a **short-acting beta-2 agonist inhaler** (e.g. salbutamol) as required 2. Add a low dose **corticosteroid** inhaler or a **leukotriene antagonist** (i.e. oral montelukast) 3. Add the other option from step 2. 4. Refer to a specialist.

Answer 12

Medical Therapy Aged 5 – 12 Years * Start a **short-acting beta-2 agonist** inhaler (e.g. salbutamol) as required * Add a regular low dose **corticosteroid** inhaler * Add a **long-acting beta-2 agonist inhaler** (e.g. salmeterol). Continue **salmeterol** only if the patient has a good response. * Titrate up the **corticosteroid inhaler** to a medium dose. Consider adding: * Oral leukotriene receptor antagonist (e.g. montelukast) * Oral theophylline * Increase the dose of the inhaled corticosteroid to a high dose. * Referral to a specialist. They may require daily oral steroids.

Answer 13

1. Start a **short-acting beta 2 agonist inhaler** (e.g. salbutamol) as required 2. Add a regular low dose **corticosteroid i**nhaler 3. Add a **long-acting beta-2 agonist inhaler** (e.g. salmeterol). Continue salmeterol only if the patient has a good response. 4. Titrate up the **corticosteroid inhaler** to a medium dose. Consider a trial of an oral leukotriene receptor antagonist (i.e. montelukast), oral theophylline or an inhaled LAMA (i.e. tiotropium). 5. Titrate the inhaled corticosteroid up to a high dose. Combine additional treatments from step 4, including the option of an oral **beta 2 agonist** (i.e. oral salbutamol). Refer to specialist. 6. Add oral steroids at the lowest dose possible to achieve good control under specialist guidance.

Answer 14

There is evidence that inhaled steroids can slightly reduce growth velocity and can cause a small reduction in final adult height of up to 1cm when used long term (for more than 12 months). This effect was dose-dependent, meaning it was less of a problem with smaller doses. It is worth putting this in context for the parent by explaining that these are effective medications that work to prevent poorly controlled asthma and asthma attacks that could lead to higher doses of oral steroids being given. Poorly controlled asthma can lead to a more significant impact on growth and development. The child will also have regular asthma reviews to ensure they are growing well and on the minimal dose required to effectively control symptoms.

Answer 15

oral thrush

Answer 16

metered dosed inhaler

Answer 17

* Remove the cap * Shake the inhaler (depending on the type) * Sit or stand up straight * Lift the chin slightly * Fully exhale * Make a tight seal around the inhaler between the lips * Take a steady breath in whilst pressing the canister * Continue breathing for 3 – 4 seconds after pressing the canister * Hold the breath for 10 seconds or as long as comfortably possible * Wait 30 seconds before giving a further dose * Rinse the mouth after using a steroid inhaler

Answer 18

* Assemble the spacer * Shake the inhaler (depending on the type) * Attach the inhaler to the correct end * Sit or stand up straight * Lift the chin slightly * Make a seal around the spacer mouthpiece or place the mask over the face * Spray the dose into the spacer * Take steady breaths in and out 5 times until the mist is fully inhaled Alternatively exhale fully before putting making a seal with the spacer, spray the dose and take one deep breath in to inhale the mist in one breath before holding for 10 seconds. Spacers should be cleaned **once a month. Avoid scrubbing** the inside and allow them to **air dry** to avoid creating static. Static can interact with the mist and prevent the medication being inhaled.

Answer 19

* Streptococcus pneumonia is most common * Group A strep (e.g. Streptococcus pyogenes) * Group B strep occurs in pre-vaccinated infants, often contracted during birth as it often colonises the vagina. * Staphylococcus aureus. This causes typical chest xray findings of pneumatocoeles (round air filled cavities) and consolidations in multiple lobes. * Haemophilus influenza particularly affects pre-vaccinated or unvaccinated children. * Mycoplasma pneumonia, an atypical bacteria with extra-pulmonary manifestations (e.g. erythema multiforme).

Answer 20

* Respiratory syncytial virus (RSV) is the most common viral cause * Parainfluenza virus * Influenza virus

Answer 21

A chest xray is the investigation of choice for diagnosing pneumonia. It is not routinely required, but can be useful if there is diagnostic doubt or in severe or complicated cases. Sending **sputum cultures** and **throat swabs for bacterial cultures** and viral PCR can establish the causative organism and guide treatment. All patients with sepsis should have blood cultures. **Capillary blood gas analysis** can be helpful in assessing or monitoring **respiratory or metabolic acidosis** and the **blood lactate** level in unwell patients.

Answer 22

Pneumonia should be treated with antibiotics according to local guidelines. **Amoxicillin** is often used first line. Adding a **macrolide** (erythromycin, clarithromycin or azithromycin) will cover atypical pneumonia. Macrolides can be used as monotherapy in patients with a penicillin allergy. **IV antibiotics** can be used when there is sepsis or a problem with intestinal absorption. Oxygen is used as required to maintain saturations above 92%.

Answer 23

Croup is an acute infective respiratory disease affecting young children. It typically affects children aged **6 months to 2 years,** however they can be older. It is an **upper respiratory tract** infection causing oedema in the larynx. The classic cause of croup that you need to spot in your exams, is **parainfluenza virus.** It usually improves in less than 48 hours and responds well to treatment is steroids, particularly **dexamethasone.**

Answer 24

Parainfluenza Influenza Adenovirus Respiratory Syncytial Virus (RSV)

Answer 25

Croup used to be caused by **diphtheria.** Croup caused by **diphtheria** leads to **epiglottitis** and has a high mortality. Vaccination mean that this is very rare in developed countries.

Answer 26

* Increased work of breathing * “Barking” cough, occurring in clusters of coughing episodes * Hoarse voice * Stridor * Low grade fever

Answer 27

Most cases can be managed at home with simple supportive treatment (fluids and rest). During attacks it can help to sit the child up and comfort them. Measures should be taken to avoid spreading infection, for example hand washing and staying off school. Oral **dexamethasone** is very effective. This is usually a single dose of 150 mcg/kg, which can be repeated if required after 12 hours. Prednisolone is sometimes used as an alternative where dexamethasone in not available (e.g. by GPs). Stepwise options in severe croup to get control of symptoms: * Oral **dexamethasone** * **Oxygen** * Nebulised **budesonide** * Nebulised **adrenalin** * **Intubation** and **ventilation**

Answer 28

Epiglottitis is inflammation and swelling of the epiglottis caused by infection, typically with haemophilus influenza type B. The epiglottis can swell to the point of completely obscuring the airway within hours of symptoms developing. Therefore, epiglottitis is a life threatening emergency.

Answer 29

Epiglottitis is now rare due to the routine vaccination program, which vaccinates all children against haemophilus. You need to be extra cautious and have high suspicion in children that have not had vaccines. It can present in a similar way to croup, but with a more rapid onset. **In you exams keep a lookout for an unvaccinated child presenting with a fever, sore throat, difficulty swallowing that is sitting forward and drooling and suspect epiglottitis.**

Answer 30

* Patient presenting with a sore throat and stridor * Drooling * Tripod position, sat forward with a hand on each knee * High fever * Difficulty or painful swallowing * Muffled voice * Scared and quiet child * Septic and unwell appearance

Answer 31

If the patient is acutely unwell and epiglottitis is suspected then investigations should not be performed. Performing a lateral xray of the neck shows a characteristic **“thumb sign” or “thumbprint sign”.** This is a soft tissue shadow that looks like a thumb pressed into the trachea. This is caused by the oedematous and swollen epiglottis. Neck xrays are also useful for excluding a **foreign body.**

Answer 32

Epiglottitis is an emergency and there is an immediate risk of the airway closing. A key point that is often talked about with epiglottitis is the importance of **not distressing the patient**, as this could prompt closure of the airway. If you see a child with suspected epiglottitis, leave them well alone and in their comfort zone. Don’t examine them and don’t make them upset. The most important thing is to alert the most senior paediatrician and anaesthetist available. Management of epiglottis centres around **ensuring the airway is secure**. Most patients do not require intubation, however there is an ongoing risk of sudden upper airway closure, so preparations need to be made to perform intubation at any time**. Intubation** is often difficult and needs to be performed in a controlled environment with facilities available to do a tracheostomy (intubating through the neck) if the airway completely closes. When patients are intubated they are transferred to an **intensive care unit.** Additional treatment once the airway is secure: * IV antibiotics (e.g. **ceftriaxone**) * Steroids (i.e. **dexamethasone**)

Answer 33

Most children recover without requiring intubation. Most patients that are intubated can be extubated after a few days and also make a full recovery. Death can occur in severe cases or if it is not diagnosed and managed in time. A common complication to be aware of is the development of an **epiglottic abscess,** which is a collection of pus around the epiglottis. This also threatens the airway, making it a life threatening emergency. Treatment is similar to epiglottitis.

Answer 34

**Laryngomalacia** is a condition affecting infants, where the part of the larynx above the vocal cords (the supraglottic larynx) is structured in a way that allows it to caus**e partial airway obstruction**. This leads to a **chronic stridor on inhalation**, when the **larynx** flops across the airway as the infant breathes in. **Stridor** is a **harsh whistling** sound caused by air being forced through an **obstruction** of the **upper airway.**

Answer 35

There are two **aryepiglottic folds** at the entrance of the larynx. They run between the **epiglottis** and the **arytenoid cartilages**. They are either side of the airway and their role is to constrict the opening of the airway to prevent food or fluids entering the larynx and trachea. In laryngomalacia the aryepiglottic folds are shortened, which pulls on the epiglottis and changes it shape to a characteristic **“omega”** shape. The tissue surrounding the **supraglottic larynx** is softer and has less tone in laryngomalacia, meaning it can flop across the airway. This happens particularly during inspiration, as the air moving through the larynx to the lungs pulls the floppy tissue across the airway to partially occlude it. This partial obstruction of the airway generates the whistling sound.

Answer 36

**Laryngomalacia** occurs in infants, peaking at 6 months. It presents with **inspiratory stridor,** a harsh whistling sound when breathing in. Usually this is intermittent and become more prominent when feeding, upset, lying on their back or during upper respiratory tract infections. Infants with laryngomalacia do not usually have associated respiratory distress. It can cause difficulties with feeding, but rarely causes complete airway obstruction or other complications.

Answer 37

The problem resolves as the larynx matures and grows and is better able to support itself, preventing it from flopping over the airway. Usually, no interventions are required and the child is left to grow out of the condition. Rarely tracheostomy may be necessary. This involves inserting a tube through the front of the neck into the trachea, bypassing the larynx. Surgery is also an option to alter the tissue in the larynx and improve the symptoms.

Answer 38

Whooping cough is an upper respiratory tract infection caused by Bordetella pertussis (a gram negative bacteria). It is called “whooping cough”, because the coughing fits are so severe that the child is unable to take in any air between coughs and subsequently makes a loud whooping sound as they forcefully suck in air after the coughing finishes.

Answer 39

Children and pregnant women are vaccinated against **pertussis**. The vaccine becomes less effective a few years after each dose

Answer 40

Pertussis typically starts with mild **coryzal** symptoms, a low grade fever and possibly a mild dry cough.

Answer 41

More severe coughing fits start after a week or more. These involve sudden and recurring attacks of coughing with cough free periods in between. This is described as a **paroxysmal cough.** Coughing fits are severe and keep building until the patient is completely out of breath. Patient typically produces a large, loud **inspiratory whoop** when the coughing ends. Patients can cough so hard they faint, vomit or even develop a **pneumothorax.** Bear in the mind that not all patients will “whoop” and infants with pertussis may present with **apnoeas** rather than a cough

Answer 42

A **nasopharyngeal or nasal swab** with PCR testing or **bacterial culture** can confirm the diagnosis within 2 to 3 weeks of the onset of symptoms. Where the cough has been present for more than 2 weeks patients can be tested for the **anti-pertussis toxin** immunoglobulin G. This is tested for in the oral fluid of children aged 5 to 16 and in the blood of those aged over 17.

Answer 43

Pertussis is a **notifiable disease**. Therefore Public Health need to be notified of each case. Management typically involves simple **supportive care**. Vulnerable or acutely unwell patients, those under 6 months and patients with apnoeas, cyanosis or patients with severe coughing fits may need to be admitted. Measures to prevent spread are important, such as avoiding contact with vulnerable people, disposing of tissues and careful hand hygiene. Macrolide antibiotics such as **azithromycin, erythromycin and clarithromycin** can be beneficial in the early stages (within the first 21 days) or vulnerable patients. **Co-trimoxazole** is an alternative to macrolides. Close contacts with an infected patient are given **prophylactic antibiotics** if they are in a vulnerable group, for example pregnant women, unvaccinated infants or healthcare workers that have contact with children or pregnant women. The symptoms typically resolve within 8 weeks, however they can last several months. It is also known as the “100-day cough” due to the potential long duration of the cough.

Answer 44

A key complication of whooping cough is **bronchiectasis.**

Answer 45

Cystic fibrosis (CF) is an **autosomal recessive** genetic condition affecting **mucus glands**. It is caused by a genetic mutation of the **cystic fibrosis transmembrane conductance regulatory gene** on **chromosome 7**. There are many variants of this mutation, the most common is the **delta-F508** mutation. This gene codes for cellular channels, particularly a type of **chloride channel**. Around 1 in 25 are **carriers** of the mutation and 1 in 2500 children have CF.

Answer 46

* **Thick pancreatic and biliary secretions** that cause blockage of the **ducts**, resulting in a lack of digestive enzymes such as **pancreatic lipase** in the **digestive tract** * **Low volume** **thick airway secretions** that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections * **Congenital bilateral absence of the vas deferens** in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility

Answer 47

A popular scenario is: both parents are healthy, one sibling has cystic fibrosis and a second child does not have the disease, what is the likelihood of the second child being a carrier? We know the child doesn’t have the condition, so the answer is two in three.

Answer 48

**Cystic fibrosis** is screened for at birth with the **newborn bloodspot test.** **Meconium ileus** is often the first sign of cystic fibrosis. The first stool that a baby passes is called meconium. This is usually black and should be passed within 24 hours of birth. In about 20% of babies with CF, the meconium is thick and sticky, causing it to get stuck and obstruct the bowel. This is called meconium ileus, and is practically pathognomonic for cystic fibrosis. This presents as not passing meconium within 24 hours, abdominal distention and vomiting. If cystic fibrosis is not diagnosed shortly after birth it can present later in childhood with typical signs and symptoms, **recurrent lower respiratory tract infections, failure to thrive or pancreatitis.**

Answer 49

* Chronic cough * Thick sputum production * Recurrent respiratory tract infections * Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes * Abdominal pain and bloating * Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat * Poor weight and height gain **(failure to thrive)**

Answer 50

* Low weight or height on growth charts * Nasal polyps * Finger clubbing * Crackles and wheezes on auscultation * Abdominal distention

Answer 51

* Hereditary clubbing * Cyanotic heart disease * Infective endocarditis * Cystic fibrosis * Tuberculosis * Inflammatory bowel disease * Liver cirrhosis

Answer 52

There are three key methods for establishing a diagnosis that you should remember for your exams: * **Newborn blood spot testing** is performed on all children shortly after birth and picks up most cases * The **sweat test** is the gold standard for diagnosis * **Genetic testing for CFTR gene** can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Answer 53

The sweat test is the key investigation to remember for cystic fibrosis. **It is the gold standard for confirming the diagnosis.** A patch of skin is chosen for the test, typically on the arm or leg. **Pilocarpine** is applied to the skin on this patch. **Electrodes** are placed either side of the patch and a small current is passed between the electrodes. This causes the skin to sweat. The sweat is absorbed with lab issued gauze or filter paper and sent to the lab for testing for the chloride concentration. The diagnostic **chloride concentration for cystic fibrosis is more than 60mmol/l.**

Answer 54

* Staphylococcus aureus * Haemophilus influenza * Klebsiella pneumoniae * Escherichia coli * Burkhodheria cepacia * Pseudomonas aeruginosa

Answer 55

: The key colonisers to remember for your exams are **staph aureus** and **pseudomonas**

Answer 56

Pseudomonas colonisation can be treated with long term nebulised antibiotics such as **tobramycin**. Oral **ciprofloxacin** is also used.

Answer 57

* **Chest physiotherapy** several times a day is essential to clear mucus and reduce the risk of infection and colonisation * **Exercise** improves respiratory function and reserve, and helps clear sputum * **High calorie diet** is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy * **CREON tablets** to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes) * **Prophylactic flucloxacillin** tablets to reduce the risk of bacterial infections (particularly staph aureus) * **Treat chest infections** when they occur * **Bronchodilators** such as salbutamol inhalers can help treat bronchoconstriction * **Nebulised DNase** (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear * **Nebulised hypertonic saline** * **Vaccinations** including **pneumococcal, influenza** and **varicella**

Answer 58

* Lung transplantation is an option in end stage respiratory failure * Liver transplant in liver failure * **Fertility treatment involving testicular sperm extraction for infertile males** * **Genetic counselling**

Answer 59

Patients with cystic fibrosis are managed and followed up in specialist clinics, typically every 6 months. They require regular monitoring of their sputum for colonisation of bacteria like pseudomonas. They also need monitoring and screening for **diabetes, osteoporosis, vitamin D deficiency and liver failure**.

Answer 60

90% of patients with CF develop **pancreatic insufficiency** 50% of adults with CF develop **cystic fibrosis-related diabetes** and require treatment with **insulin** 30% of adults with CF develop **liver disease** Most males are infertile due to absent vas deferens

Answer 61

In the fetus, blood needs to go via the **placenta to** collect oxygen and nutrients and to dispose of waste products such as **carbon dioxide** and **lactate** (via the mother).

Answer 62

As the fetal lungs are not fully developed or functional, it does not make sense for the fetal blood to pass through the pulmonary circulation. Therefore there are three **shunts** that allow blood to bypass the lungs.

Answer 63

Ductus venosus Foramen ovale Ductus arteriosus.

Answer 64

Ductus venosus: This shunt connects the **umbilical vein** to the **inferior vena cava** and allows blood to bypass the **liver.**

Answer 65

This shunt connects the **right atrium** with the **left atrium** and allows blood to **bypass the right ventricle and pulmonary circulation.**

Answer 66

This shunt connects the **pulmonary artery** with the **aorta** and allows blood to bypass the **pulmonary circulation**

Answer 67

The first breaths the baby takes expands the alveoli, decreasing the **pulmonary vascular resistance.**

Answer 68

The decrease in pulmonary vascular resistance causes a fall in pressure in the **right atrium.** At this point the left atrial pressure is greater than the right atrial pressure, which squashes the atrial septum to cause functional closure of the foramen ovale, similar to a closed valve with nothing flowing through it. This then gets sealed shut structurally after a few weeks and becomes the **fossa ovalis**.

Answer 69

**Prostaglandins** are required to keep the ductus arteriosus open

Answer 70

ncreased blood oxygenation causes a drop in circulating prostaglandins. This causes closure of the ductus arteriosus, which becomes the ligamentum arteriosum.

Answer 71

because the umbilical cord is clamped and there is no flow in the umbilical veins. The ductus venosus structurally closes a few days later and becomes the ligamentum venosum.

Answer 72

Innocent murmurs are also known as flow murmurs. They are very common in children. They are caused by fast blood flow through various areas of the heart during systole.

Answer 73

* Soft * Short * Systolic * Symptomless * Situation dependent, particularly if the murmur gets quieter with standing or only appears when the child is unwell or feverish

Answer 74

Murmur louder than 2/6 Diastolic murmurs Louder on standing Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath

Answer 75

ECG Chest Xray Echocardiography

Answer 76

the left lower sternal border

Answer 77

fourth intercostal space on the left sternal border

Answer 78

During **inspiration** the chest wall and **diaphragm** pull the lungs open. This also pulls the heart open. This is called **negative intra-thoracic pressure.** This causes the right side of the heart to fill faster as it pulls in blood from the venous system. The increased volume in the right ventricle causes it to take longer for the right ventricle to empty during systole, causing a delay in the pulmonary valve closing. When the **pulmonary valve** closes slightly later than the aortic valve, this causes the second heart sound to be **“split”.**

Answer 79

Atrial septal defects cause a mid-systolic, crescendo-decrescendo murmur loudest at the upper left sternal border,with a fixed split second heart sound.

Answer 80

ore significant PDAs cause a normal first heart sound with a continuous crescendo-decrescendo **“machinery” murmur** that may continue during the second heart sound, making the second heart sound difficult to hear.

Answer 81

pulmonary stenosis, giving an ejection systolic murmur loudest at the pulmonary area (second intercostal space, left sternal border).

Answer 82

Cyanosis occurs when **deoxygenated blood** enters the systemic circulation. Cyanotic heart disease occurs when blood is able to **bypass the pulmonary circulation** and the lungs. This occurs across a right-to-left shunt. A **right-to-left shunt** describes any defect that allows blood to flow from the right side of the heart (the deoxygenated blood returning from the body) to the **left side of the heart** (the blood exiting the heart into the systemic circulation) without travelling through the lungs to get oxygenated.

Answer 83

Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Transposition of the great arteries

Answer 84

This is because the pressure in the left side of the heart is much greater than the right side, and blood will flow from the area of high pressure to the area of low pressure. This prevents a right-to-left shunt. If the pulmonary pressure increases beyond the systemic pressure blood will start to flow from right-to-left across the defect, causing cyanosis. This is called **Eisenmenger syndrome.**

Answer 85

Patients with transposition of the great arteries will always have **cyanosis** because the right side of the heart pumps blood directly into the aorta and systemic circulation.

Answer 86

patent ductus arteriosus” (PDA)

Answer 87

Prematurity

Answer 88

The pressure in the **aorta** is higher than that in the **pulmonary vessels**, so blood flows from the aorta to the pulmonary artery. This creates a **left to right shunt** where blood from the left side of the heart crosses to the circulation from the right side. This increases the pressure in the pulmonary vessels causing **pulmonary hypertension**, leading to **right sided heart strain** as the right ventricle struggles to contract against the increased resistance. Pulmonary hypertension and right sided heart strain lead to **right ventricular hypertrophy**. The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to **left ventricular hypertrophy.**

Answer 89

Shortness of breath Difficulty feeding Poor weight gain Lower respiratory tract infections

Answer 90

can be confirmed by echocardiogram. The use of doppler flow studies during the echo can assess the size and characteristics of the left to right shunt. An echo is also useful for assessing the effects of the PDA on the heart, for example demonstrating hypertrophy of the right ventricle, left ventricle or both

Answer 91

Patients are typically monitored until 1 year of age using echocardiograms. After 1 year of age it is highly unlikely that the PDA will close spontaneously and **trans-catheter or surgical closure** can be performed. Symptomatic patient or those with evidence of heart failure as a result of PDA are treated earlier.

Answer 92

An atrial septal defect is a defect (a hole) in the septum (the wall) between the two atria. This connects the right and left atria allowing blood to flow between them.

Answer 93

During the development of the fetus the left and right atria are connected. Two walls grow downwards from the top of the heart, then fuse together with the **endocardial cushion** in the middle of the heart to separate the atria. These two walls are called the **septum primum** and **septum secondum.** Defects this these two walls lead to **atrial septal defects**, a hole connecting the left and right **atria.** There is a small hole in the **septum secondum** called the **foramen ovale**. The foramen ovale normally closes at birth. An **atrial septal defect** leads to a **shunt**, with blood moving between the two atria. Blood moves from the left atrium to the right atrium because the pressure in the left atrium is higher than the pressure in the right atrium. This means blood continues to flow to the pulmonary vessels and lungs to get oxygenated and the patient does not become cyanotic, however the increased flow to the right side of the heart leads to right sided overload and right heart strain. This right sided overload can lead to right heart failure and pulmonary hypertension.

Answer 94

. This is where the pulmonary pressure is greater than the systemic pressure, the shunt reverses and forms a right to left shunt across the ASD, blood bypasses the lungs and the patient becomes cyanotic.

Answer 95

* **Ostium secondum,** where the septum secondum fails to fully close, leaving a hole in the wall. * **Patent foramen ovale,** where the foramen ovale fails to close (although this not strictly classified as an ASD). * **Ostium primum**, where the septum primum fails to fully close, leaving a hole in the wall. This tends to lead to atrioventricular valve defects making it an atrioventricular septal defect.

Answer 96

* Stroke in the context of venous thromboembolism (see below) * Atrial fibrillation or atrial flutter * Pulmonary hypertension and right sided heart failure * Eisenmenger syndrome

Answer 97

**Atrial septal defects** are often picked up through antenatal scans or newborn examinations. It may be asymptomatic in childhood and present in adulthood with **dyspnoea, heart failure or stroke.** Typical symptoms in childhood are: * Shortness of breath * Difficulty feeding * Poor weight gain * Lower respiratory tract infections

Answer 98

Patients with an ASD should be referred to a paediatric cardiologist for ongoing management. If the ASD is small and asymptomatic, watching and waiting can be appropriate. ASDs can be corrected surgically using a **transvenous cathete**r closure (via the femoral vein) or open heart surgery. Anticoagulants (such as aspirin, warfarin and NOACs) are used to reduce the risk of clots and stroke in adults.

Answer 99

A **ventricular septal defect (VSD)** is a congenital hole in the septum (wall) between the two ventricles. This can vary in size from tiny to the entire septum, forming one large ventricle. VSDs can occur in isolation, however there is often an underlying genetic condition and they are commonly associated with **Down’s Syndrome and Turner’s Syndrome.**

Answer 100

right sided overload, right heart failure and increased flow into the pulmonary vessels.

Answer 101

Poor feeding Dyspnoea Tachypnoea Failure to thrive

Answer 102

Patients with a VSD typically have a **pan-systolic murmur** more prominently heard at the **left lower sternal border** in the **third and fourth intercostal space**s. There may be a **systolic thrill** on palpation.

Answer 103

ventricular septal defect, mitral regurgitation and tricuspid regurgitation.

Answer 104

Treatment should be coordinated by a paediatric cardiologist. Small VSDs with no symptoms or evidence of **pulmonary hypertension or heart failure** can be watched over time. Often they close spontaneously. VSDs can be corrected surgically using a **transvenous catheter** closure via the femoral vein or open heart surgery. There is an increased risk of **infective endocarditis** in patients with a VSD. Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk of developing infective endocarditis.

Answer 105

Atrial septal defect Ventricular septal defect Patent ductus arteriosus

Answer 106

Eisenmenger syndrome can develop after **1-2 years** with large shunts or in adulthood with small shunts. It can develop more quickly during **pregnancy**, so women with a history of having a “hole in the heart” need an echo and close monitoring by a cardiologist during pregnancy.

Answer 107

Normally when there is a **septal defect blood** will flow from the left side of the heart to the right. This is because the pressure in the left side is greater than in the right. Remember, the left ventricle has to pump blood through the entire body, whereas the right ventricle simply has to fill the lungs. A **left to right** shunt means blood still travels to the lungs and gets oxygenated, so the patient does not become cyanotic.

Answer 108

Over time the extra blood flowing into the right side of the heart and the lungs increases the pressure in the pulmonary vessels. This leads to **pulmonary hypertension**. When the pulmonary pressure exceeds **the systemic pressure,** blood begins to flow from the right side of the heart to the left across the septal defect. This is a right to left shunt. Essentially it becomes easier for the right side of the heart to pump blood across the defect into the left side of the heart compared with pumping blood into the lungs. This causes **deoxygenated blood** to bypass the lungs and enter the body. This causes **cyanosis.**

Answer 109

**Cyanosis** refers to the blue discolouration of skin relating to a low level of **oxygen saturation** in the blood. The bone marrow will respond to low oxygen saturations by producing more red blood cells and haemoglobin to increase the oxygen carrying capacity of the blood. This leads to **polycythaemia,** which is a high concentration of haemoglobin in the blood. Polycythaemia gives patients a **plethoric** complexion. A high concentration of red blood cells and haemoglobin make the blood more viscous, making patients more prone to developing blood clots.

Answer 110

* Right ventricular heave: the right ventricle contracts forcefully against increased pressure in the lungs * Loud P2: loud second heart sound due to forceful shutting of the pulmonary valve * Raised JVP * Peripheral oedema

Answer 111

Atrial septal defect: **mid-systolic, crescendo-decrescendo** murmur loudest at the upper left sternal border Ventricular septal defect: **pan-systolic murmur** loudest at the left lower sternal border Patent ductus arteriosus: **continuous crescendo-decrescendo “machinery”** murmur Arrhythmias

Answer 112

* Cyanosis * Clubbing * Dyspnoea * Plethoric complexion (a red complexion related to polycythaemia)

Answer 113

Eisenmenger syndrome reduces life expectancy by around 20 years compared with healthy individuals. The main causes of death are heart failure, infection, thromboembolism and haemorrhage. The mortality can be up to 50% in pregnancy.

Answer 114

Patients with Eisenmenger syndrome will be closely followed up by a specialist. Medical management involves: * Oxygen can help manage symptoms but does not affect overall outcomes * Treatment of **pulmonary hypertension**, for example using sildenafil * Treatment of arrhythmias * Treatment of **polycythaemia** with venesection * Prevention and treatment of **thrombosis** with **anticoagulation** * Prevention of **infective endocarditis** using **prophylactic antibiotics**

Answer 115

Once the pulmonary pressure is high enough to cause the syndrome, it is not possible to medically reverse the condition. The only definitive treatment is a **heart-lung transplant,** however this has a high mortality.

Answer 116

Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus.

Answer 117

The severity of the coarctation (or narrowing) can vary from mild to severe. It is often associated with an underlying genetic condition, particularly **Turners syndrome.**

Answer 118

Narrowing of the aorta reduces the pressure of blood flowing to the arteries that are distal to the narrowing. It increases the pressure in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.

Answer 119

Often the only indication of **coarctation** in a neonate may be weak **femoral pulses.** Performing a **four limb blood** pressure will reveal high blood pressure in the limbs supplied from arteries that come before the narrowing, and lowe**r blood pressure in limbs that come after the narrowing. There may be a** systolic murmur heard below the left clavicle (**left infraclavicular area**) and below the **left scapula**. Coarctation may have other signs in infancy: * **Tachypnoea** and increased work of breathing * Poor feeding * Grey and floppy baby Additional signs may develop over time: * Left ventricular heave due to left ventricular hypertrophy * Underdeveloped left arm where there is reduced flow to the left subclavian artery * Underdevelopment of the legs

Answer 120

The severity of the coarctation varies between patients. In mild cases patients can live symptom free until adulthood without requiring surgical input, and in severe cases patients will require emergency surgery shortly after birth. In cases of critical coarctation where there is a risk of heart failure and death shortly after birth **Prostaglandin E** is used keep the ductus arteriosus open while waiting for surgery. This allows some blood flow flow through the **ductus arteriosus** into the systemic circulation distal to the coarctation. Surgery is then performed to correct the **coarctation** and to **ligate** the **ductus arteriosus.**

Answer 121

Patients with aortic stenosis may have one, two, three or four **leaflets**.

Answer 122

Mild aortic stenosis can be completely asymptomatic, discovered as an incidental murmur during a routine examination. More significant **aortic stenosis** can present with symptoms of fatigue, shortness of breath, dizziness and fainting. Symptoms are typically **worse on exertion** as the outflow from the left ventricle cannot keep up with demand. Severe aortic stenosis will present with heart failure within months of birth.

Answer 123

The key examination finding is an **ejection systolic murmur** heard loudest at the aortic area, which is the **second intercostal space, right sternal border**. It has a crescendo-decrescendo character and **radiates to the carotids.** Other signs that may be present on examination are: * **Ejection click** just before the murmur * **Palpable thrill** during systole * **Slow rising pulse** and **narrow pulse pressure**

Answer 124

The gold standard investigation for establishing a diagnosis is an echocardiogram. Congenital aortic stenosis tends to be a progressive condition that worsens over time. Patients need regular follow-up under a paediatric cardiologist, with **echocardiograms, ECGs** and **exercise testing** to monitor the progression of the condition. Patient with more significant stenosis may need to restrict physical activities. Options for treating the stenosis are: * **Percutaneous balloon aortic valvoplasty** * **Surgical aortic valvotomy** * **Valve replacement**

Answer 125

* **Left ventricular outflow tract obstruction** * Heart failure * Ventricular arrhythmia * Bacterial endocarditis * Sudden death, often on exertion

Answer 126

The pulmonary valve usually consists of **three** leaflets that open and close to let blood out and prevent blood from returning to the heart. These leaflets can develop abnormally, becoming thickened or fused. This results in a narrow opening between the **right ventricle** and the **pulmonary artery.** This is called congenital pulmonary valve stenosis.

Answer 127

Congenital pulmonary valve stenosis often occurs without any associations. It can be associated with other conditions such as: * Tetralogy of Fallot * William syndrome * Noonan syndrome * Congenital rubella syndrome

Answer 128

Often pulmonary stenosis is completely asymptomatic, and it is discovered as an incidental finding of a murmur during routine baby checks. More significant **pulmonary valve stenosis** can present with symptoms of fatigue on exertion, shortness of breath, dizziness and fainting.

Answer 129

* **Ejection systolic murmur** heard loudest at the pulmonary area (second intercostal space, left sternal border) * **Palpable thrill** in the pulmonary area * **Right ventricular heave** due to right ventricular hypertrophy * **Raised JVP** with giant a waves

Answer 130

The gold standard investigation for establishing a diagnosis is an echocardiogram. In mild pulmonary stenosis without symptoms patients generally do not require any intervention. They are followed up by a cardiologist with a **“watching and waiting”** approach. If the patient is symptomatic or the valve is more significantly stenosed, balloon valvuloplasty via a venous catheter is the treatment of choice. This involves inserting a catheter under xray guidance into the femoral vein, through the inferior vena cava and right side of the heart to the pulmonary valve, and dilating the valve by inflating a balloon. If valvuloplasty is not appropriate or fails open-heart surgery can be performed.

Answer 131

Ventricular septal defect (VSD) Overriding aorta Pulmonary valve stenosis Right ventricular hypertrophy

Answer 132

The VSD allows blood to flow between the ventricles. The term **“overriding aorta”** refers to the fact that the entrance to the aorta (the aortic valve) is placed further to the right than normal, above the VSD. This means that when the right ventricle contracts and sends blood upwards, the **aorta** is in the direction of travel of that blood, therefore a greater proportion of **deoxygenated** blood enters the aorta from the right side of the heart.

Answer 133

Stenosis of the pulmonary valve provides greater resistance against the flow of blood from the right ventricle. This encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels. Therefore, the overriding aorta and pulmonary stenosis encourage blood to be shunted from the right heart to the left, causing cyanosis.

Answer 134

The increased strain on the muscular wall of the right ventricle as it attempts to pump blood against the resistance of the left ventricle and pulmonary stenosis causes **right ventricular hypertrophy**, with thickening of the heart muscle.

Answer 135

right to left

Answer 136

Rubella infection Increased age of the mother (over 40 years) Alcohol consumption in pregnancy Diabetic mother

Answer 137

As with all structural congenital cardiac abnormalities, an **echocardiogram** is the investigation of choice for establishing the diagnosis. During the echocardiogram, the machine can produce coloured pictures that demonstrate the direction of flow of blood. This is called **doppler flow studies**. This is useful in assessing the severity of the abnormality and shunt. A chest xray may show the characteristic **“boot shaped”** heart due to **right ventricular thickening.** This not particularly useful diagnostically except during medical exams

Answer 138

Most cases are picked up before the child is born during the **antenatal scans**. Additionally, an ejection systolic murmur caused by the **pulmonary stenosis** may be heard on the **newborn baby check.** Severe cases will present with heart failure before one year of age. In milder cases, they can present as older children once they start to develop signs and symptoms of heart failure.

Answer 139

* Cyanosis (blue discolouration of the skin due to low oxygen saturations) * Clubbing * Poor feeding * Poor weight gain * Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border) * “Tet spells”

Answer 140

“Tet Spells” are intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode. This happens when the pulmonary vascular resistance increases or the systemic resistance decreases. For example, if the child is physically exerting themselves they are generating a lot of carbon dioxide. Carbon dioxide is a vasodilator that causes systemic vasodilation and therefore reduces the systemic vascular resistance. Blood flow will choose the path of least resistance, so blood will be pumped from the right ventricle to the aorta rather than the pulmonary vessels, bypassing the lungs. These episodes may be precipitated by waking, physical exertion or crying. The child will become irritable, cyanotic and short of breath. Severe spells can lead to reduced consciousness, seizures and potentially death.

Answer 141

Older children may **squat** when a tet spell occurs. Younger children can be positioned with their knees to their chest. Squatting increases the systemic vascular resistance. This encourages blood to enter the **pulmonary vessels.**

Answer 142

* **Supplementary oxygen** is essential in hypoxic children as hypoxia can be fatal. * **Beta blockers** can relax the right ventricle and improve flow to the pulmonary vessels. * **IV fluids** can increase pre-load, increasing the volume of blood flowing to the pulmonary vessels. * **Morphine** can decrease respiratory drive, resulting in more effective breathing. * **Sodium bicarbonate** can buffer any metabolic acidosis that occurs. * **Phenylephrine infusion** can increase systemic vascular resistance.

Answer 143

In neonates, a **prostaglandin infusion** can be used to maintain the **ductus arteriosus**. This allows blood to flow from the aorta back to the pulmonary arteries. **Total surgical repair** by **open heart surgery** is the definitive treatment, however mortality from surgery is around 5%. Prognosis depends on the severity, however it is poor without treatment. With corrective surgery, 90% of patients will live into adulthood.

Answer 144

Transposition of the great arteries is a condition where the attachments of the aorta and the pulmonary trunk to the heart are swapped **(“transposed”).** This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels. In this scenario are two separate circulations that don’t mix: one travelling through the **systemic system** and **right side** of the heart and the other traveling through the **pulmonary system** and **left side** of the heart.

Answer 145

Ventricular septal defect Coarctation of the aorta Pulmonary stenosis

Answer 146

Yes During pregnancy there is normal development of the fetus. The gas and nutrient exchange happens in the placenta, therefore it is not necessary for blood to flow to the lungs. After birth the condition is immediately life threatening as there is no connection between the systemic circulation and the pulmonary circulation. The baby will be cyanosed.

Answer 147

The defect is often diagnosed during pregnancy with **antenatal ultrasound scans**. Close monitoring is necessary during the pregnancy and arrangements should be made so that the woman gives birth in a hospital capable of managing the condition after birth. Where the defect was not detected during pregnancy it will present with **cyanosis** at or within a few days of birth. A **patent ductus arteriosus or ventricular septal defec**t can initially compensate by allowing blood to mix between the systemic circulation and the lungs, however within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating.

Answer 148

Where there is a **ventricular septal defect**, this will allow some mixing of blood between the two systems and provide some time for definitive treatment. A **prostaglandin** infusion can be used to maintain the **ductus arteriosus.** This allow blood from the aorta to flow to the pulmonary arteries for oxygenation. **Balloon septostomy** involves inserting a catheter into the **foramen ovale** via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body. **Open heart surgery** is the definitive management. A **cardiopulmonary** bypass machine is used to perform an “arterial switch” procedure within a few days of birth. If present, a VSD or ASD can be corrected at the same time.

Answer 149

Ebstein’s anomaly is a congenital heart condition where the tricuspid valve is set lower in the right side of the heart (towards the apex), causing a bigger right atrium and a smaller right ventricle. This leads to poor flow from the right atrium to the right ventricle, and therefore poor flow to the pulmonary vessels. It is often associated with a right to left shunt across the atria via an atrial septal defect. When this happens blood bypasses the lungs, leading to cyanosis. It is also associated with Wolff-Parkinson-White syndrome.

Answer 150

Typical presenting features include: * Evidence of heart failure (e.g. oedema) * Gallop rhythm heard on auscultation characterised by the addition of the third and fourth heart sounds * Cyanosis * Shortness of breath and tachypnoea * Poor feeding * Collapse or cardiac arrest Symptoms in patients with an associated atrial septal defect often present a few days after birth, when the ductus arteriosus closes. Where there is a right to left shunt across an atrial septal defect the ductus arteriosus allows blood to flow from the aorta into the pulmonary vessels to get oxygenated. This minimises the cyanosis. When the duct closes the patient becomes cyanotic and symptomatic.

Answer 151

Echocardiogram is the investigation of choice for confirming the diagnosis and assessing the severity.

Answer 152

Medical management includes treating arrhythmias and heart failure. Prophylactic antibiotics may be used to prevent infective endocarditis. Definitive management is by surgical correction of the underlying defect.