Structural Abnormalities

Question 1

Congenital Heart Disease (def.)

Answer 1

A gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance. Present at birth.

Question 2

Incidence of congenital heart disease

Answer 2

4-13 per 100 live births.

Scotland 8/1000 (3/1000 major defect)

Question 3

Spectrum of severity in congenital heart disease

Answer 3

MILD - asymptomatic, may resolve or progress
MODERATE - requires specialist intervention and monitoring
SEVERE - critically unwell or even death in newborn period or early infancy

MAJOR congenital heart disease requires surgery within the first year of life.

Know examples of each category.

Question 4

When might congenital heart disease present?

Answer 4

Antenatally 
Soon after birth 
Day 1-2 baby check 
Day 3-7 (sudden circulatory collapse, shock, cyanosis, sudden death) 
4-6 weeks cardiac failure 
6-8 week GP visit 

murmurs etc may also be found incidentally at other clinical contact

Question 5

Spectrum of presentation in congenital heart disease

Answer 5

Well baby with clinical sings

Unwell baby - cyanosis, shock, cardiac failure.

Question 6

How is congenital heart disease found during antenatal scanning?

Answer 6

4 chamber heart view and outflow tract view (DA).

Question 7

Why is sensitivity of antenatal scanning for congenital heart disease so variable?

Answer 7

Depends on training and experience of operator.

Depends on maternal characteristics.

Question 8

Management post antenatal diagnosis of congenital heart disease

Answer 8

Expert team - delivery in cardiac surgical centre?

Prostaglandin infusion? Prepare in advance.

Question 9

Newborn screening involves…

Answer 9

femoral pulses, heart sounds and checking for presence of murmurs (sometimes also pre-post ductal sats).

Question 10

How effective is newborn screening?

Answer 10

More than half of infants with congenital heart disease are missed in this exam.
A third of infants with life threatening heart abnormalities leave undiagnosed.

Question 11

How indicative are murmurs of underlying heart disease?

Answer 11

Around half of babies with a murmur have underlying HD. The other half are healthy babies.

Question 12

Cyanosis in neonates

Answer 12

Any condition causing deoxygenated blood to bypass lungs and enter systemic system.
Any condition where mixed oxygenated and deoxygenated blood enters systemic system from the heart.
Clinically- blueish discolouration.

Question 13

Differential diagnosis of Cyanosis

Answer 13

Cardiac disease (little or no resp distress) 
Respiratory disease (increase breathing and CXR changes)
PPHN (very unwell, pre-post ductal differential)

Question 14

Transposition of the Great Vessels (def)

Answer 14

Group of cyanotic congenital heart defects involving an abnormal spatial arrangement of any of the great vessels -> decreased oxygen in blood pumped to heart and body.

Question 15

What might help neonate with TGV survive?

Answer 15

Foramen Ovale or congenital defect such as ASD may allow time for diagnosis and correction surgery- a balloon can be used to widen this shunt.
Ducts may also be involved (not dependent)

Question 16

When do Ductus Arteriosus and Ductus Venosus close?

Answer 16

after birth- shunt remains for 2-7 days after birth.

Question 17

Clinical signs of Duct Dependent Condition

Answer 17

Pallor 
Prolonged CRT 
Poor/absent pulses 
Hepatomeglay 
Crepitations 
Increased work of breathing

Acidosis

Question 18

Treatment of Duct Dependent Conditions

Answer 18

ABC as necessary
Prostaglandin E2 given to open duct
Multisystem support
Transfer to Cardiac Centre for definitive treatment (surgery)

Question 19

Examples of systemic DDC

Answer 19

HPLH
Critical aortic stenosis
Interrupted aortic arch
Critical coarctation of aorta

Question 20

Examples of pulmonary DDC

Answer 20

Tricuspid atresia

Pulmonary atresia

Question 21

Pulmonary Atresia (def.)

Answer 21

Failure of formation of pulmonary valve. Associated with VSD.

Blood supply to the lungs - retrograde filling of the branch pulmonary arteries via DA when duct open so often ok, however is therefore problematic when DA closes.

Question 22

Why is Cardiac Failure associated with large left to right shunts?

Answer 22

Large left to right shunts cause increase in pulmonary flow and therefore ventricular load.

Question 23

When does Cardiac Failure usually present?

Answer 23

Few weeks old- when pulmonary pressure drops (left to right flow across defect increases).

Question 24

Clinical signs of cardiac failure in babies

Answer 24

Failure to thrive 
Slow/reduced feeding 
Breathlessness (feeding) 
Sweating 
Hepatomegaly 
Crepitations

Question 25

Management of Major Congenital HD

Answer 25

Surgery- repair vs palliative Developmental problems Future surgery considered Emotional and Social issues

Question 26

How is Patent DA repaired?

Answer 26

Catheter procedure where device closes the duct, with a couple of follow up appointments to ensure flow stopped and the device is in the correct position.

Question 27

How is VSD repaired?

Answer 27

Closure can be done using a patch. Follow up during childhood and adolescence to check for rhythm or valve problems. Generally, these patients are expected to have a normal life.

Question 28

How is HLHS treated?

Answer 28

This requires a 3 stage complex surgery. There is significant mortality at each stage and between. The end result is RV supplying the systemic circulation. This will fail over time and the patient will eventually need a transplant.

Question 29

Arrhythmia is a common manifestation of genetic conditions- three categories?

Answer 29

Inherited Arrhythmia Syndromes Inherited Cardiomyopathies Inherited multisystem diseases with CVS involvement (myotonic dystrophy)

Question 30

Two groups of arrhythmogenic inherited cardiac conditions

Answer 30

Channelopathies and cardiomyopathies

Question 31

Examples of Channelopathies

Answer 31

``` Congenital Long QT syndrome Brugada Syndrome Catecholaminergic Polymorphic Ventricular tachycardia (CPVT) Short QT syndrome Progressive familial conduction disease Familial AF Familial WPW ```

Question 32

Examples of Cardiomyopathies

Answer 32

Hypertrophic cardiomyopathy Arrhythmogenic Right Ventricular cardiomyopathy (ARVC) Dilated cardiomyopathy

Question 33

How are inherited cardiac conditions (arrhythmic) diagnosed?

Answer 33

Clinical testing Genetic testing Family Screening

Question 34

Risk management of Inherited Arrhythmic Conditions involves...

Answer 34

Lifestyle Pharmacological agents Non-pharmacological intervention

Question 35

The surface ECG =

Answer 35

summation of all ion currents across the cell membrane

Question 36

What are the main proteins responsible for LQTS, Brugada and CPVT?

Answer 36

LQTS - Potassium voltage gated channel member 1 (KVLQT1) Brugada - Sodium channel (voltage gated type V a subunit) CPVT - Ryanodine receptor 2

Question 37

What triggers polymorphic VT (torsades de pointes)?

Answer 37

adrenergic stimulation

Question 38

Autosomal Dominant LQTS

Answer 38

Isolated LQT: Romano-Ward syndrome | Extra cardiac features: Anderson-Tawil Syndrome, Timothy syndrome

Question 39

Autosomal Recessive LQTS

Answer 39

Associated with deafness: Jervell and Lange-Nielsen syndrome

Question 40

Mechanism of QT prolongation

Answer 40

less repolarising and more depolarising current prolongs APD.

Question 41

Molecular basis of LQTS (how does it trigger polymorphic ventricular tachycardia)?

Answer 41

Genetic mutation causes reduced or dysfunctional ionic current. This prolongs cardiac repolarisation and therefore QT interval. This triggers polymorphic ventricular tachycardia.

Question 42

How is LQTS diagnosed?

Answer 42

QTc >480 ms in repeated 12 lead ECGs, or LQTS risk score >3 Presence of confirmed pathogenic LQTS mutation (irrespective of QT duration) (ECG QTc <460 ms in unexpained syncopal episode considered)

Question 43

Torsades de Pointes

Answer 43

specific form of polymorphic ventricular tachycardia occurring in the context of QT prolongation; it has a characteristic morphology in which the QRS complexes “twist” around the isoelectric line. For TdP to be diagnosed, the patient has to have evidence of both PVT and QT prolongation.

Question 44

Risk of sudden cardiac death in LQTS

Answer 44

Age dependant Gender (pre-adolescent males and adult females) Increasing QT duration Prior syncope, and response to beta-blockers

Question 45

What lifestyle changes are recommended in patients with LQTS?

Answer 45

Avoidance of QT prolonging drugs Correction of electrolyte abnormalities that may occur during vomiting, diarrhoea, metabolic conditions. Avoidance of genotype specific triggers.

Question 46

Examples of genotype specific triggers in LQTS

Answer 46

LQTS1 - strenuous swimming | LQTS2- exposure to loud noises

Question 47

What arrhythmic abnormalities is Brugada Syndrome associated with?

Answer 47

Increases risk of polymorphic VT and VF. | Atrial fibrillation is common.

Question 48

What are the characteristics of a diagnostic ECG of Brugada Syndrome?

Answer 48

``` ST elevation (type 1 morphoogy >2mm) and RBBB in V1-V3 ECG findings may be intermittent, change over time Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel) ```

Question 49

What might trigger VF in a patient with Brugada Syndrome?

Answer 49

Usually rest or sleep Fever Excessive alcohol, large meals Genotype and family history of SCD does not influence prognosis

Question 50

What is the incidence of arrhythmia in patient with Brugada syndrome?

Answer 50

1% in asymptomatic patients 3. 2% in patients with syncope 13. 5% if previous cardiac arrest

Question 51

What lifestyle changes are recommended in Brugada Syndrome?

Answer 51

Avoidance of drugs that may induce ST elevation in right precordial leads Avoidance of excess alcohol intake and large meals prompt treatment of fever with antipyretic drugs ICD implantation recommended in cardiac arrest survivors and those with spontaneous sustained VT

Question 52

Drugs to avoid in Brugada Syndrome

Answer 52

Anti-arrhythmic drugs Psychotropics Analgesics Anaesthetics

Question 53

What is Brugada Syndrome?

Answer 53

Genetic abnormality where the heart looks and functions normally but sudden electrical activity can lead to arrhythmia. In a third of cases, this is due to the SCN5A gene.

Question 54

What is Catecholaminergic Polymorphic Ventricular Tachycardia?

Answer 54

CPVT is a rare inherited heart rhythm disturbance found in young people and children. Within your heart cells, proteins regulate the release of calcium ions. If these proteins function abnormally, it can lead to a rise in the level of calcium inside your cells. This rise in calcium can cause arrhythmias.

Question 55

What can trigger PVT/SVT in CPVT?

Answer 55

Emotional stress Physical activity (adrenergic induced)

Question 56

What would an ECG look like in CPVT?

Answer 56

Both the ECG and ECHO would be normal.

Question 57

Autosomal dominant and recessive genetics of CPVT

Answer 57

Dominant- Ryanodine Receptor mutation (RyR2) | Recessive- Cardiac calsequestrin gene (CASQ2)

Question 58

Wha lifestyle changes are recommended in CPVT?

Answer 58

Avoidance of competitive sports, strenuous exercise and stressful environments Beta blockers are recommended in all patients, and possibly genetically positive family members ICD implantation recommended in CA arrest survivors and those with recurrent syncope or VT

Question 59

When would Flecainide be used in CPVT?

Answer 59

Alongside beta blockers where; Recurrent Syncope Polymorphic/bidirectional VT Risk/contraindications for ICD

Question 60

What is the primary genetic cause of hypertrophic cardiomyopathy?

Answer 60

Mutation in the sarcomeric protein genes accounts for 60% of hypertrophic cardiomyopathy/ Other causes include inborn errors of metabolism, AMP kinase, carnitine disorders, lysosomal storage disorders, mitochondrial diseases, neuromuscular diseases, malformation syndromes, amyloidosis, newborn of diabetic mother and drug induced.

Question 61

How is Hypertrophic Cardiomyopathy diagnosed?

Answer 61

1. Clinical evaluation 2. Diagnostic red flags 3. Further testing/genetic testing depending on what previous tests suggest 4. Consideration of genetic/non-genetic causes 5. Arrival at specific genetic/acquired disorder

Question 62

Signs and symptoms suggestive of specific diagnosis in relation to Hypertrophic Cardiomyopathy.

Answer 62

Learning difficulties/mental retardation- mitochondrial disease, Noonan/LEOPARD/Costello, Danon disease. Sensorineural deafness- mitochondrial diseases, Anderson-Fabry, LEOPARD. Visual impairment- mitochondrial diseases, TTR related amyloidosis, Danon diseases, Anderson-Fabry disease. Gait disturbance- Friedreich's ataxia. Paraesthesia/sensory abnormalities/neuropathic pain- amyloidosis, Anderson-Fabry disease. Carpal tunnel syndrome- TTR related amyloidosis. Muscle weakness- mitochondrial diseases, glycogen storage disorders, FHLI mutations, Friedreich's ataxia. Palpebral ptosis- mitchondrial diseases, Noonan/LEOPARD, myotonic dystrophy. Lentigines/cafe au lair spots- LEOPARD/Noonan syndrome Angiokeratomata/hypohidrosis- Anderson-Fabry disease

Question 63

ECG abnormalities suggestive of specific disease (cardiomyopathies)

Answer 63

see notes for european heart journal guidelines

Question 64

HOCM clinical presentations

Answer 64

``` Sudden death Heart failure Angina Atrial Fibrillation Asymptomatic ```

Question 65

How is heart failure treated in hypertrophic cardiomyopathy?

Answer 65

LVOTO > 50 mmHg = management of LVOTO LVOTO <50 mmHg = AF? rate control anticoagulation. LVEF >50% = Beta blockers, verapamil or diltiazem, low dose loop and thiazide diuretics. LVEF <50% = beta blockers, ACEi, MRA, low dose loop and thiazide diuretics. Thereafter, consider cardiac transplant. (see notes for more detail)

Question 66

Risk variables in the HCM Risk-SCD

Answer 66

``` Age FH of SCD Unexplained syncope LV outflow gradient Max LV wall thickness LA diameter NSVT ```

Question 67

Recommendations for prevention of SCD in HCM

Answer 67

Avoidance of competitive sports ICD implantation where VT or VF HCM risk-SCD estimation of risk at five years (16+) - should be reevaluated every couple of years (see notes for ICD recommendations)

Question 68

When is genetic counselling recommended in HCM?

Answer 68

When disease is not solely explained by non-genetic cause, whether of not genetic testing used to screen family. Genetic counselling performed as part of MDT.

Question 69

Dilated Cardiomyopathy (def.)

Answer 69

Dilated cardiomyopathy (DCM) is a condition in which the heart's ability to pump blood is decreased because the heart's main pumping chamber, the left ventricle, is enlarged and weakened. In some cases, it prevents the heart from relaxing and filling with blood as it should.

Question 70

Incidence of DCM

Answer 70

1 in 2500 (7 per 100,000) Low incidence in childhood Males > females

Question 71

Genetic causes of DCM

Answer 71

Genetic mutations found in 20% of cases; Sarcomere and desosomal genes LaminA/C and desmin if there is conduction disease Dystrophin if X-linked

Question 72

Risk prediction of DCM

Answer 72

LVEF = 35% | EPS not recommended

Question 73

Lamin A/C

Answer 73

Mutations in the Lamin A/C gene- present in 5-8% of familial DCM. Associated with; Progressive dilated cardiomyopathy Atrioventricular block (first degree heart block) SVT and VA High risk of SCD +/-Neuromuscular symptoms (ICD considered where LMNA mutation and clinical risk factors)

Question 74

Clinical risk factors associated with DCM

Answer 74

Male NSVT Missense mutations LVEF <45% at first evaluation (ICD considered where LMNA mutation and clinical risk factors)

Question 75

Arrhythmogenic RV Cardiomyopathy (def.)

Answer 75

Fibro-fatty replacement of cardiomyocytes. LV involvement in >50% of cases. Autosomal dominant mutations in the genes for desmosomal proteins; autosomal recessive mutations in nondesmosomal genes. 1 in 1000-5000 prevalence Cardiac mortality 0.9%/year.

Question 76

Risk factors for SCD in ARVC

Answer 76

``` Family history of premature SCD Severity of RV and LV function Frequent non-sustained VT ECG : QRS prolongation VT induction on EPS Male gender Age of presentation ```

Question 77

Treatment recommendations in ARVC

Answer 77

Avoid competitive sports Beta blockers (where PVC and NSVT) ICD if history of SCD and VT Amioderone considered is PVC or NSVT where contraindications to BB Catheter ablation considered where patient unresponsive to therapy and prevent ICD shocks ICD also considered where haemodynamically well tolerated VT balances risk of ICD, and in patients with one or more RF for VS with LE >1 year

Question 78

Why is pre-symptomatic identification of individuals at risk of SCD important?

Answer 78

SCD may be the only presentation. Young age group at risk. Effective therapies are available - life style changes, beta blockers, ICDs, Absence of co-morbidities, thus many years of benefit from therapeutic strategies. Family members may also be at risk.

Question 79

What are complications associated with Transvenous Leads?

Answer 79

``` Endocarditis Perforation Hemothorax Pneumothorax Thromboembolic events Vascular complications Lead fractures Lead extraction complications Lead dislodgement ``` (note- recommendations state ICD implantations should take into consideration the lifelong risk of complication and impact)

Question 80

When would subcutaneous defibrillators be considered as an alternative to transvenous defibrillators?

Answer 80

Where patient has indication for ICD when pacing therapy for bradycardia support, cardiac resynchronisation or antitachycardia pacing is not needed. May also be considered when venous access is difficult, after the removal of transvenous ICD for infections or in young patients who require long term use.

Question 81

Issues with Inherited Cardiac Conditions in the young

Answer 81

``` Psycho-social impact Lifestyle School Sports Pregnancy ICD therapy Employment Life-insurance Diagnosis and management : multidisciplinary approach ```

Question 82

What are the steps following SCD?

Answer 82

Making the diagnosis Assessing relatives for disease and risk (DNA retention for genetic post mortem then genetic testing of family members) Prevention of further events

Question 83

Cascade screening (def)

Answer 83

Cascade testing is the identification of close relatives of an individual with a disorder to determine whether the relatives are also affected or are carriers of the same disorder. Produces a greater rate of case identification than general population screening. Once a diagnosis is confirmed in an individual, testing is extended to first degree and second degree relatives. If relatives test positive, their first and second degree relatives are approached and offered testing, and so on.