Breathless Baby Flashcards

1
Q

How do you assess poor feeding?

A

The volumes of milk taken before and now.

The timescale of the decline in feeding is important to get an idea of the duration of illness as feeding is often an important first sign.

Establish why he stops feeding i.e. if he is out of breath

Does the parent have any other ideas about a precipitating factor (ICE).

Up to a month of age the minimum milk requirement to provide enough calories to grow is 150mls/kg/day.

After 1 month this can be down to 100/mls/kg minimum so long as they are gaining weight.

So asking about the volume of milk taken and weight is important to work out if the baby is meeting their nutritional need.

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2
Q

What should you ask about the presenting complaint in a paediatrics history?

A

What to ask about the current illness

  • When and how did it start?
  • Was the child well before?
  • Have there been any previous episodes of similar illness?
  • How did it develop?
  • What aggravates or relieves the symptom(s)?
  • Any contact with similar illness in others/siblings, or infectious outbreaks?
  • Any recent overseas travel?
  • How has the illness affected the family?
    -Have the symptoms kept the child from attending nursery/school?

In infants

  • Pattern of feeding, bowel movements, and number and wetness of nappies.
  • Sleeping/waking cycle, alertness and activity.
  • Whether there has been weight loss or gain.

Further directed questioning

  • Having established these facts:
  • Form hypotheses about the possible diagnoses/problem.
  • Test the hypothesis with appropriate further enquiry.
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3
Q

What should you ask in the past medical history in a paediatrics history?

A

Peri-conceptual history
o Establish whether there was any parental illness around the time of conception that may be relevant.
o Note whether the child was conceived naturally or by assisted reproduction.
o If relevant, establish whether the child is adopted (or in foster care) with due sensitivity to the child’s awareness of the facts.

History of pregnancy
Any factors relevant to fetal well-being should be recorded. For example:
o Antenatal infections (for example, rubella).
o Rhesus incompatibility and haemolytic disease.
o Exposure to prescribed, recreational drugs or over-the-counter (OTC) medication.
o Any maternal illness or problems in pregnancy.

Peri-natal history
Factors pertinent to the child's health should be identified. For example:
o Gestation.
o Duration of labour- looking for increased risk of infection with prolonged rupture of membranes.
o Mode of delivery
o Birth weight.
o Resuscitation required.
o Birth injury.
o Congenital malformations identified.
Neonatal period
Relevant examples include:
o Jaundice.
o Fits.
o Febrile illnesses.
o Bleeding disorders.
o Feeding problems.

Other relevant past history
This will include:
o Any subsequent illnesses, surgery, accidents or trauma.
o Results and any concerns from screening tests at child health clinics or school.
o Immunisation record.
o Travel details.

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4
Q

What should you ask about developmental history?

A

Parental recall of major milestones will usually give important information (such as sitting up, crawling, walking, talking, toilet training, reading).

It may be useful to ask how the child’s progress and milestones compare with siblings and peers.

Observations from other carers (school, nursery and extended family) may be helpful.

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5
Q

Which questions should you ask in the family history?

A
Relevant history. For example:
o	Previous miscarriages or stillbirths.
o	Diabetes mellitus.
o	Hypertension.
o	Renal disease.
o	Seizures.
o	Jaundice.
o	Congenital malformations.
o	Infections such as tuberculosis.
•	Note whether siblings and parents are all alive and well.

Consider conditions which may have a genetic component (such as coronary heart disease and cerebrovascular disease). Occasionally it is appropriate to address risk factors (such as familial hypercholesterolaemia) during childhood.

Consanguinity occurs more commonly in some cultures and may be relevant to inherited disease (particularly autosomal recessive conditions).

It can be useful to present findings by using a two-generation family tree.

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6
Q

Which questions do you ask in the social history?

A

Take care not to offend, when enquiring about the structure of the family unit, by making assumptions about who may or may not be present or ‘involved’.

Be prepared to allow information to come out gradually. Information may come from others (for example, nursing staff, play specialists, educationalists). Ask about:
o Who lives at home (and any role in childcare).
o Siblings (ages, health, problems).
o Play.
o Eating and sleeping patterns.
o Schooling and any problems.
o Pets.
o Housing issues or problems.
o Childcare (if a parent works or both parents work).
o Parental occupation(s).
o Smoking in the home.

Child abuse is a common problem. Child abuse comes in many guises and harm is inflicted in many different ways. Any such concerns may emerge from the social and family history and any concerns should be shared with colleagues and Social Services.

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7
Q

Which questions do you ask in the educational and emotional history?

A

It may be appropriate to ask specific questions about a child’s experience and attainments at school. This may include, for example, asking about ability to concentrate and to make progress with learning in reading, spelling and mathematics.

Any fear or anxiety about school should be explored. Bullying is common and can interfere with learning. Reports from teachers can be enlightening and supplement the history.

Emotional history:
Specific questions may be asked about mood, eating and sleeping habits, interests, hobbies and other activities.

Life events and emotionally disturbing events can have a major effect on well-being and general development.

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8
Q

What are the causes of tachycardia?

A

Upset baby

Pyrexia

Pain

Fear - stranger fear

Cardiac arrhythmia ie SVT-HR would normally be > 220 in this age with an SVT but would need to assess rate and look at ECG

Increase work – this would be similar to exercise. Adam is needing to use his accessory muscles to help with his breathing and oxygenation

Cardiac/circulatory failure - most likely due to associated prolonged capillary refill, enlarged liver, cool peripheries, history of becoming clammy on feeding, murmur.

Shock, including hypovolaemia secondary to an accidental or non-accidental injury always consider this.

Shock hypovolaemia secondary to third space loss such as sepsis this would cause cool extremities.

Endocrine i.e. hyperthyroid

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9
Q

What are the causes of abnormal respiratory examination?

A

Primary respiratory disease such as bronchiolitis

Congenital abnormality causing respiratory compromise such as diaphragmatic hernia

Cardiac disease- compensating for poor perfusion and hypoxia and also an element of pulmonary oedema

Shock due to hypovolaemia –compensating for poor perfusion, hypoxia and probable acidosis

Acute blood loss secondary to an accidental or non-accidental injury, i.e. subdural
o sepsis,
o 3rd space loss i.e. intersuseption

Metabolic conditions with compensatory breathing for either metabolic acidosis or metabolic alkalosis

Endocrine e.g. DKA, always consider is it Kussmaul’s breathing

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10
Q

Causes of increased sleepiness in a baby?

A

Hypoglycaemic due to poor feeding

Exhausted due to work of breathing and feeding

Encephalopathic due to infection both viral and bacterial

Encephalopathic due a high ammonia secondary to a metabolic condition

Neurological secondary to a head injury as could occur in an NAI, poor cerebral perfusion

Hypoxia - less likely in this case as saturations are 94%

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11
Q

What is bronchiolitis?

A

Bronchiolitis is an acute viral infection of the lower respiratory tract that occurs primarily in the very young. It is a clinical diagnosis based upon typical symptoms and signs.

Bronchiolitis is generally a self-limiting illness, and management is mostly supportive.

In the UK, the term describes an illness in infants, beginning as an upper respiratory tract infection (URTI) that evolves with signs of respiratory distress, cough, wheeze, and often bilateral crepitations.

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12
Q

What is the cause of bronchiolitis?

A

Bronchiolitis is caused by a viral infection, most often respiratory syncytial virus (RSV).

This is responsible for up to 80% of cases. Other possible viral causative agents include human metapneumovirus (hMPV), adenovirus, rhinovirus, and parainfluenza and influenza viruses.

In some cases, there may be infection with more than one virus.

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13
Q

What are the risk factors for bronchiolitis?

A
Environmental and social risk factors:
o	Older siblings.
o	Nursery attendance.
o	Passive smoke, particularly maternal.
o	Overcrowding.

Breastfeeding is considered protective and should be encouraged for this and other reasons.

Most admissions (85%) for bronchiolitis are in infants born at term with no risk factors.

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14
Q

What are the risk factors for severe bronchiolitis and/or complications?

A
o Prematurity (<37 weeks).
o Low birth weight.
o Mechanical ventilation when a neonate.
o Age less than 12 weeks.
o Chronic lung disease (e.g., cystic fibrosis, bronchopulmonary dysplasia).
o Congenital heart disease.
o Neurological disease with hypotonia and pharyngeal discoordination.
o Epilepsy.
o Insulin-dependent diabetes.
o Immunocompromise.
o Congenital defects of the airways.
o Down's syndrome.
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15
Q

What is the presentation of bronchiolitis?

A

NICE advise that bronchiolitis should be considered in children under the age of 2 years who present with a 1- to 3-day history of coryzal symptoms, followed by:
o Persistent cough; and
o Either tachypnoea or chest recession (or both); and
o Either wheeze or crackles on chest auscultation (or both).

Other typical features include fever (usually of less than 39°C) and poor feeding.

Consider an alternative diagnosis such as pneumonia if temperature is higher and crackles are focal.

Consider viral-induced wheeze if there is wheeze without crackles, episodic symptoms and/or a family history of atopy.

Very young babies may present with apnoea alone, with no other signs.

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16
Q

What is included in the assessment of a child presenting with bronchiolitis?

A

Take a history, and examine the child, making note of capillary refill time, respiratory rate, heart rate, chest signs, etc. Following examination, measure oxygen saturation in any child with suspected bronchiolitis.

Consider referral to secondary care if the respiratory rate is >60 breaths/minute, or if there is inadequate fluid intake or there are signs of dehydration; also, if the child is less than 3 months of age or was born prematurely, or there is comorbidity (particularly respiratory or heart disease, or immunodeficiency).

Take into account social circumstances and the ability of the carer to assess deterioration.

Refer immediately if any of the following are present:
o Apnoea (observed or reported).
o Marked chest recession or grunting.
o Respiratory rate >70 breaths/minute.
o Central cyanosis.
o Oxygen saturation of less than 92%.
o The child looks seriously unwell to a healthcare professional

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17
Q

Differentials of bronchiolitis

A

Viral-induced wheeze- consider if there is wheeze but no crackles, a history of episodic wheeze, and/or a family or personal history of atopy.

Pneumonia.

Asthma

Bronchitis

Pulmonary oedema

Foreign body inhalation

Oesophageal reflux

Aspiration

Cystic fibrosis

Kartagener’s syndrome

Tracheomalacia

Pneumothorax

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18
Q

Investigations for bronchiolitis

A
  • Pulse oximetry
  • Viral throat swabs for respiratory viruses
  • Fever >39°C or focal chest signs would prompt investigations such as a chest X-ray to rule out alternative diagnoses such as pneumonia, or complications.
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19
Q

Management of bronchiolitis in primary care

A

Most infants with acute bronchiolitis will have mild, self-limiting illness and can be managed at home. Supportive measures are the mainstay of treatment, with attention to fluid input, nutrition and temperature control.

Advise the parents that the illness is self-limiting and symptoms tend to peak between 3-5 days of onset.

Anti-pyretic agents are needed only if a raised temperature is causing distress to the child.

If referring to hospital, give supplementary oxygen whilst awaiting admission in children whose oxygen saturations are persistently below 92%.

Careful safety netting is important, teaching parents to spot deterioration and to seek medical review should this occur.

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20
Q

Management of bronchiolitis in secondary care

A

Even amongst hospitalised children, supportive care is the mainstay of treatment, including oxygen and nasogastric feeding where necessary.

Upper airway suction may be useful if there is difficulty feeding or a history of apnoea. Continuous positive airway pressure (CPAP) may be considered in those who have impending respiratory failure.

NICE advise not using bronchodilators, corticosteroids, epinephrine, antibiotics, montelukast, ribavirin and chest physiotherapy techniques.

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21
Q

Prognosis of bronchiolitis

A

Most children with bronchiolitis make a full recovery.

The illness is typically self-limiting, lasting 3-7 days. The cough settles within three weeks in most.

Bronchiolitis is more likely to be severe in children with chronic lung disease, who are under 3 months of age or who were born <32 weeks of gestation.

There is an association with long-term respiratory conditions such as asthma but it is not known if there is causality.

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22
Q

What is the immunoprophylaxis of RSV disease?

A

RSV immunoglobulin (RSV-Ig) which has been superseded by palivizumab, a monoclonal antibody. It has been shown to reduce RSV-related hospitalisation and intensive care admissions significantly.

The Joint Committee on Vaccination and Immunisation recommends that it should be used by those at high risk of severe RSV disease:
o Those with bronchopulmonary dysplasia (BPD, also known as chronic lung disease) due to prematurity or chronic lung disease.
o Those at high risk due to congenital heart disease.
o Those at high risk due to severe combined immunodeficiency syndrome.

The first dose should be administered before the start of the RSV season.

23
Q

What is ventricular septal defect?

A

Ventricular septal defect (VSD) is the persistence of one or more holes in the septum that separates the left and right ventricles of the heart.

The ventricles are a single chamber at about four weeks of gestation but by eight weeks it has been divided into two.

Failure of development of any part of the septum results in a defect. It may vary considerably in terms of size and haemodynamic consequences

24
Q

What is the classification of VSD?

A

Defects in the membranous septum often extend into different parts of the muscular septum and are labelled as perimembranous defects.
These include inlet, trabecular and infundibular perimembranous defects. Perimembranous defects are the most common.

Defects confined to the muscular septum are called muscular defects and further described according to their location in the muscular septum. Muscular defects can be found in or between the inlet septum, trabecular septum or infundibular septum.

Defects in the area of the septum adjacent to the arterial valves are termed as subarterial infundibular defects. These defects are also called supracristal defects and because of the complete deficiency of the infundibular septum, allow prolapse of the aortic valve cusps into the right ventricular outflow tract.

25
Q

How is the ventricular septum divided?

A

The ventricular septum is divided into a small membranous portion and a large muscular portion.

The muscular septum has three components: the inlet septum, the trabecular septum, and the outlet (or infundibular) septum.

26
Q

What are the conditions associated with VSD?

A

Factors affecting the developing fetal heart can be associated with development of VSDs.

These include genetic conditions (chromosomal, single gene or polygenic) as well as environmental influences.
Chromosomal disorder caused by absent or duplicated chromosomes may be associated with VSDs. These include the trisomies (Edward’s syndrome, Patau’s syndrome and Down’s syndrome), 22q11 deletion and 45,X deletion (Turner syndrome).

Single gene disorders are caused by deletions, mutations or duplications within a single gene and there is high risk of recurrence in first-degree relatives. An example is Holt-Oram syndrome.

Polygenic disorders encompass many congenital heart defects, including the majority of VSDs.

No genetic testing is available but the recurrence risk can be used for genetic counselling for future pregnancies. The recurrence risk is estimated to be between 3% and 5%.

VSD is also more likely with diabetees in pregnancy.

It can occur with fetal alcohol syndrome.

There may be an association with maternal use of cannabis.

27
Q

What is Edward’s syndrome?

A

Edwards’ syndrome (trisomy 18) is a common autosomal chromosomal disorder due to the presence of an extra chromosome 18.

The Edwards’ syndrome phenotype results from full, mosaic or partial trisomy 18q. Full trisomy 18 is the most common form occurring in about 94% of cases. In full trisomy every cell contains three full copies of chromosome 18.

Antenatal diagnosis of trisomy 18 leads to termination of pregnancy in 86% of cases.

28
Q

What are the ultrasound findings of Edward’s syndrome?

A

Ultrasound findings include growth restriction, polyhydramnios, strawberry-shaped cranium, choroid plexus cyst, overlapping of hands fingers (2nd and 5th on 3rd and 4th respectively), congenital heart defects, omphalocele, single umbilical artery.

29
Q

Clinical features of Edward’s syndrome?

A

After birth, There is:
o Low birth weight
o Craniofacial abnormalities such as micrognathia (small jaw), microcephaly and cleft lip.
o Skeletal abnormalities such as thumb aplasia, short sternum, hypoplastic nails.
o Congenital heart defects: >90% have this and it includes ASD, VSD, patent ductus arteriosus and aortic coarctation.
o GI abnormalities such as omphalocele, diastasis recti, pyloric stenosis.
o Pulmonary hypoplasia.

30
Q

Treatment of Edward’s syndrome

A

Treatment of a liveborn infant is generally supportive but life-sustaining measures are not always carried out.

31
Q

What is Patau’s syndrome?

A

Patau’s syndrome (trisomy 13) carries a high mortality rate with multiple congenital abnormalities which result in severe physical and mental impairment.

It is usually due to a free-standing trisomy with an extra number 13 chromosome, instead of the usual pair, in all cells.

An unbalanced chromosome translocation can also occur - commonly, a Robertsonian translocation, in which an extra copy of chromosome 13 is attached to another chromosome.

32
Q

Clinical features of Patau’s syndrome

A

Many fetuses never survive until term and are stillborn or spontaneously abort.
Features include:
Intrauterine growth restriction and low birth weight.

Congenital heart defects: these occur in 80%; they include atrial septal defect, ventricular septal defect, patent ductus arteriosus, dextrocardia.

Holoprosencephaly: the brain doesn’t divide into two halves; this can present with midline facial defects including:

  • Cleft lip and palate.
  • Microphthalmia or anophthalmia.
  • Nasal malformation.
  • Hypotelorism (reduced distance between the eyes) or cyclops.

Other abnormalities include NTDs, microcephaly, cutis aplasia, omphalocele, exomphalos, polycystic kidneys, polydactyly.

33
Q

Management of Patau’s syndrome

A

Treatment of a ‘liveborn’ infant is generally supportive but life-sustaining measures are not always carried out.

34
Q

Presentation of VSD

A

The presence of a VSD may not be obvious at birth because of nearly equal pressures in both the ventricles with little or no shunting of blood.

As the pulmonary vascular resistance drops, the pressure difference between the two ventricles increases and the shunt becomes significant allowing the defect to become clinically apparent.

All babies with Down’s syndrome should therefore be screened for congenital heart disease no later than 6 weeks of age.

With a small VSD, the infant or child is asymptomatic with normal feeding and weight gain and the lesion may be detected when a murmur is heard at a routine examination.

35
Q

What is the first main symptoms of moderate VSD?

A

With a moderate-to-large VSD, although the babies are well at birth, symptoms generally appear by 5 to 6 weeks of age. The main symptom is exercise intolerance and since the only exercise babies do is feeding, the first impact is on feeding.

Feeding tends to slow down and is often associated with tachypnoea and increased respiratory effort. Babies are able to feed less, and weight gain and growth are soon affected. Poor weight gain is a good indicator of heart failure in a baby. Recurrent respiratory infections may also occur.

With very large VSDs the features are similar but more severe. These babies may develop a right to left shunt with cyanosis or Eisenmenger’s syndrome.

Murmurs (pansystolic or early systolic)

Holosystolic murmur represents blood shunting from the left to the right ventricle.

36
Q

Investigations for VSD

A

ECG shows LVH, RVH, right atrial hypertrophy.

CXR shows cardiomegaly, pulmonary arteries are enlarged in pulmonary HTN.

Echocardiography estimate the size of VSDs

37
Q

Differentials of VSD

A

Patent ductus arteriosus

Pulmonary stenosis

38
Q

What is the management of VSD?

A

Management in the infant and child depends on symptoms, with small asymptomatic defects needing no medical management, and unlikely to need any intervention.

First-line treatment for moderate or large defects affecting feeding and growth is with diuretics for heart failure and high-energy feeds to improve calorie intake.

Angiotensin-converting enzyme inhibitors are used to reduce afterload which promotes direct systemic flow from the left ventricle, thus reducing the shunt. Digoxin can also be given for its inotropic effect.

Surgical repair is required if there is uncontrolled heart failure, including poor growth. Even very small babies may be considered for surgery.

Infundibular defects may be considered for closure even if they are asymptomatic because of their location.

Development of aortic valve prolapse and aortic regurgitation in perimembranous VSDs may be an indication for surgical closure.

Advances in catheter techniques and devices mean that many muscular and perimembranous VSDs can now be closed percutaneously. This is in the setting of normal atrioventricular and ventriculoarterial connections and absence of any atrioventricular or arterial valve override.

39
Q

What are the complications of VSD?

A

Eisenmenger’s syndrome
Bacterial endocarditis
RBBB

40
Q

What is congenital heart disease?

A

Many defects are possible but most defects either obstruct flow of blood in the heart or in vessels near to it or cause blood to take an abnormal route through the heart.

More rarely only one ventricle may be present, or the right or left side of the heart has failed to form properly (hypoplastic heart).

Significant amounts of blood shunting from right to left without traversing the lungs causes cyanotic congenital heart disease.

41
Q

Examples of non-cyanotic congenital heart disease

A
o	VSD (systolic murmur)
o	ASD
o	Patent ductus arteriosus (PDA) 
o	Aortic stenosis (systolic murmur)
o	Pulmonic stenosis (systolic murmur)
o	Coarctation of the aorta
42
Q

Examples of cyanotic congenital heart disease

A

Fallot’s tetralogy (systolic murmur)

Transposition of the great arteries

Tricuspid atresia- absence of the tricuspid valve

Total anomalous pulmonary venous return: all four pulmonary veins are malpositioned.

Persistent truncus arteriosus (diastolic murmur)

Hypoplastic left heart: the left side of the heart is severely underdeveloped.

Pulmonary atresia: pulmonary valve is completely closed and the only source of pulmonary blood flow is a PDA

Ebstein’s anomaly

43
Q

What are the risk factors for congenital heart disease?

A

The relative risk of recurrence of congenital heart disease increases if a first-degree relative has a congenital heart disease.

Risk of congenital heart disease is increased in consanguineous unions, especially at first cousin level; this needs to be taken into account at time of genetic counselling.

A foetus may be affected during cardiac development by intrauterine infection such as rubella, or drugs and toxins taken by the mother, including lithium and alcohol.

Some genetic conditions are associated with a higher incidence of congenital heart disease, including Down’s syndrome, DiGeorge’s syndrome, Williams’ syndrome, Noonan’s syndrome and Turner syndrome

Maternal DM

Lack of folic acid

44
Q

What is the presentation of congenital heart disease

A

The cardiovascular system is complex, as the circulation changes from fetal to infant and there may be transient problems such as PDA or patent foramen ovale, especially in premature babies.

Many congenital heart anomalies are now diagnosed before delivery, by detailed antenatal scans.

Congenital heart disease can also be suspected and diagnosed in asymptomatic neonates during the neonatal screening examination which includes checking femoral pulses and auscultation for heart murmurs.

Babies with significant left-to-right shunts (VSD, ASD, PDA, aorto-pulmonary window) are asymptomatic at birth but can present with signs of heart failure and faltering growth in early infancy.

Others are diagnosed at various ages subsequent to the detection of a heart murmur as part of routine screening or during clinical examination for intercurrent illness.

45
Q

Presentation of severe left-sided obstructive lesions for congenital heart disease

A

systemic blood flow is dependent on right-to-left blood flow through a PDA.

Closure of the duct soon after birth causes acute, severe cardiovascular collapse requiring immediate cardiovascular resuscitation and prostaglandin infusion.

Examples of left-sided ductus-dependent congenital heart disease include hypoplastic left heart syndrome, critical aortic stenosis, coarctation of aorta and interrupted aortic arch.

46
Q

Presentation of severe right-sided duct-dependent lesions for congenital heart disease

A

Closure of the ductus causes increasing hypoxia and cyanosis.

Examples include pulmonary atresia, severe tetralogy of Fallot, tricuspid atresia and Ebstein’s anomaly.

Transposition of great arteries also presents as a blue baby. Urgent cardiovascular resuscitation and prostaglandin infusion are the mainstay of treatment.

47
Q

What are the investigations for congenital heart disease?

A

Babies developing severe cardiovascular and respiratory distress/collapse require urgent hospital admission, CXR, blood gases, assessment of renal function and electrolytes and assessment of other possible causes of cardiovascular collapse – e.g., full infection screen. Clinical assessment should include checking for femoral pulses and measurement of pre- and post-ductal saturations.

Murmurs arising during the first days or weeks of life should be referred to a paediatrician for assessment.

The initial investigation of choice is echocardiography. It is non-invasive. It can elucidate both anatomy and flow and will give a conclusive diagnosis in most cases.

Cardiac catheterisation may be required in more severe cases to assess the extent of the problem and to prepare for correction of the problem.

48
Q

What is the management of congenital heart disease?

A

Acute severe presentations may require:
o Immediate resuscitation.
o Urgent hospital treatment, including prostaglandin infusion for ductus-dependent lesions.

If the disorder is severe enough to compromise the circulation and the oxygenation of the blood, or to put a strain on the heart or lungs, surgical correction or non-surgical intervention, such as balloon valvotomy, may be required.

In the most severe cases (for example, hypoplastic heart), multiple palliative surgical procedures or a heart transplant may be required.

The type and extent of the correction required will depend on the underlying anomaly.

49
Q

What are the complications of congenital heart disease?

A
Infective endocarditis 
Failure to thrive 
Stroke 
Pulmonary hypertension and if this builds up and exceeds systemic pressure, the shunt may reverse from right to left. This is called Eisenmenger’s complex. 
Cyanosis results in polycythaemia.
50
Q

What is kartagener’s syndrome?

A

This is described as autosomal recessive inherited syndrome.

Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies.

It consists of a triad of features:
o Situs inversus (transposition of the viscera).
o Abnormal frontal sinuses (producing sinusitis and bronchiectasis).
o Primary ciliary dyskinesia (PCD)

The defective cilia lining the respiratory tract are unable to clear the airways of secretions and pathogenic bacteria, resulting in mucus retention and chronic or recurrent respiratory tract infection - leading to damage to airway walls.

51
Q

What is the presentation of Kartagener’s syndrome?

A

Upper respiratory symptoms may include: chronic rhinorrhoea from early childhood, reduced sense of smell and chronic rhinitis.

Recurrent otitis media may occur.

Chronic obstructive pulmonary disease (COPD), bronchiectasis and recurrent pneumonia may all be components of the syndrome.

Male infertility due to immobile spermatozoa and decreased fertility in females may also occur.

52
Q

What are the investigations for Kartagener’s syndrome?

A

CXR may show dextrocardia, lung over-inflation, bronchial wall thickening and peribronchial infiltrates.

Right-sided heart disease with chronic respiratory tract symptoms is highly indicative and occurs in half of patients.

CT scan for bronchiectasis and to demonstrate involvement of paranasal sinuses (poorly aerated mastoids ± absence of frontal sinuses).

53
Q

What is the management for Kartagener’s syndrome?

A

Medical care:
o Antibiotics for infections
o Bronchodilators, mucolytics and chest physiotherapy for obstructive lung disease.
o Tympanostomy tubes will reduce recurrent infections and conductive hearing loss.