cardio: genetics

Question 1

What is the epidemiology of congenital heart disease?

Answer 1

Accounts for 30% of congenital anomalies

• Incidence of 8 in 1,000 live births
• 8 most common lesions account for 80% of the cases of congenital heart disease

Question 2

What are the 8 commonest congenital anomalies?

Answer 2

• Ventricular septal defect
• Patent ductus arteriosus
• Atrial septal defect
• Pulmonary stenosis
• Aortic stenosis
• Coarctation of the aorta
• Transposition of the great vessels
• Teratology of Fallot

Question 3

What is the aetiology of congenital heart disease?

Answer 3

Genetic susceptibility with environmental hazard

-Teratogenic insult 18-60 days post conception

Question 4

What environmental factors can increase the risk of congenital heart disease?

Answer 4

Drugs
-Alcohol, amphetamines, cocaine, ecstasy, phenytoin, lithium

Infections
-Toxoplasma, rubella, CMV, Herpes, other

Maternal
-Diabetes, SLE

Question 5

What is the association between CHD and chromosomal abnormalities?

Answer 5

• 6-10% of all CHD have underlying chromosomal problem

- 30% of chromosomal abnormalities have CHD

Question 6

Give examples of syndromes and their associated CHD.

Answer 6

Trisomy 13
-VSD and ASD

Trisomy 18
-VSD and PDA

Trisomy 21
-AVSD

Turner
-Co-arctation of the aorta

Noonan
-Pulmonary stenosis

Williams
-Supraclavicular AS

22q11 deletion syndrome
-Teratology of Fallot