Congenital/Genetic Heart Disease

Question 1

What is the most common heart defect in Down’s syndrome patients?

Answer 1

AV septal defect (15%)

Question 2

What is a cystic hygroma? What is it associated with?

Answer 2

Lymph filled tumour of neck

Associated with CHD

Question 3

What are the genetic conditions associated with neck webbing?

Answer 3

Noonan's 
Leopard
Cardi-facio cutaneous
Costello syndrome
Turner's Syndrome

Question 4

What are Noonan-like syndromes associated with?

Answer 4

Pulmonary stenosis

Question 5

What is the cause of Turner’s Syndrome?

Answer 5

45, X

Question 6

What does CATCH22 stand for?

Answer 6

Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft pallate 
Hypoparathyroidism
22q11 deletion syndrome

Question 7

What is Turner’s syndrome associated with?

Answer 7

Neck webbing
Short stature
Gonadal dysgenesis
Coarctation of the aorta

Question 8

What additional heart condition is associated with Costello syndrome?

Answer 8

Cardiomyopathy

Question 9

22q11 syndrome encompasses which conditions?

Answer 9

DIGeorge

Shprintzen

Question 10

DiGeorge Syndrome is associated with what?

Answer 10

Tetralogy of fallot

Question 11

Shprintzen Syndrome is associated with what?

Answer 11

Tetralogy of fallot

Question 12

When do you test for 22q11 syndrome?

Answer 12

If they present 2 or more clinical features

Question 13

22q11 deletion is commonly associated with what non-cardiac issues?

Answer 13

Psychiatric problems
Schizophrenia
Depression

Question 14

Williams Syndrome is associated with what?

Answer 14

Supravalvular Aortic stenosis
Hypercalcaemia
Cocktail party manner

Question 15

What causes Williams syndrome?

Answer 15

Deletion of elastin (chrom 7)

Question 16

Most common teratogens

Answer 16

Fetal alcohol
Anti-epileptics
Rubella
Maternal DM

Question 17

VSD is associated with which deficiency?

Answer 17

Folate

Question 18

What is Marfan’s Syndrome

Answer 18

Autosomal dominant syndrome of the Fibrillin 1 gene (chrom 15q21)

Question 19

What is used to diagnose Marfan’s syndrome?

Answer 19

Ghent criteria (2010)

Question 20

What is the Ghent criteria?

Answer 20

Aortic dilation/dissection
Ectopia lentis
Fibrillin 1
Family history
(Systemic score >7)

Question 21

What tests should always be done for suspected Marfan’s syndrome?

Answer 21

ALWAYS ECHO

Question 22

What tests should be used to confirm or rule out a marfans diagnosis?

Answer 22

Gene test for Fibrillin 1
MRI - pelvic spine (dural ectasia)
Pelvic X-ray

Question 23

What are the Marfan like syndromes?

Answer 23

Loeys Dietz
Marfan Syndrome type 2
Familial Thoracic AA
MASS phenotype

Question 24

What is the optimal management of Marfan’s?

Answer 24

Lifestyle advice
Annual review:
Echo
Beta blockers
ARBs/ACEI
Surgery (aortic root)

Question 25

What surgeries are recommened for Marfans and when?

Answer 25

Aortic root surgery is Sinus diameter >5.5cm or 5% growth per year 4cm in pregnancy

Question 26

What does Long QT syndrome cause?

Answer 26

Syncope | Sudden death

Question 27

What can induce Long QT?

Answer 27

Emotion Exercise Drugs

Question 28

How does Jervell Lange-Neilsens differ from Romano-ward?

Answer 28

Same (Long QT) plus congenital deafness

Question 29

Why is genotyping useful in Long QT?

Answer 29

Prediction of arrhythmia Prognosis Lifestyle Treatment

Question 30

Brugada syndrome appears as what?

Answer 30

RBBB | V1-3 ST elevation

Question 31

What is the prevalence of hypertrophic cardiomyopathy?

Answer 31

1/500

Question 32

Earlier diagnosis of Hypertrophic Cardiomyopathy increases what?

Answer 32

Likelihood of mortality

Question 33

Arrhythmogenic Right Ventricular Cardiomyopathy presents with what?

Answer 33

Effort induced polymorphic tachycardia (LBBB)

Question 34

Dilated cardiomyopathy presents with a history of what?

Answer 34

Pre/syncope Arrhythmia Arrhythmia on ECG Family history of sudden cardiac death

Question 35

Fetal alcohol syndrome is sometimes associated with what cardiovascular problems?

Answer 35

Atrial/ventricular septal defect

Question 36

How does ARVC appear on the ECG?

Answer 36

LBBB pattern | T-wave inversion V2-3

Question 37

What should be considered in dilated cardiomyopathy if diabetes, deafness or skeletal disease occurs also?

Answer 37

Mitochondrial diorder

Question 38

Genetic testing in dilated cardiomyopathy?

Answer 38

LMNA SCN5A Dystrophin Sarcomere

Question 39

What is cascade screening?

Answer 39

ECG for first degree relatives

Question 40

Trisomies/monosomies are examples of what?

Answer 40

Chromosomal disorders

Question 41

22q11 deletion, Williams are examples of what?

Answer 41

Microdeletions

Question 42

Noonans, Marfans are examples of what?

Answer 42

Single gene disorders

Question 43

Common Teratogens

Answer 43

Rubella Alcohol Anti-epileptics Maternal DM