Congenital Heart Disease

Question 1

At what stage of gestation does the heart and vasculature become the first fully functional organ system?

Accepted Answer

4 weeks — The heart and vasculature become the first fully functional organ system at approximately 4 weeks of gestation. ---

Question 2

Which of the following is the most common genetic cause of congenital heart disease?

Accepted Answer

Trisomy 21 (Down syndrome) — Trisomy 21, or Down syndrome, is the most common genetic cause associated with congenital heart disease. ---

Question 3

What percentage of patients with Down syndrome have one or more heart defects?

Accepted Answer

40% — Approximately 40% of patients with Down syndrome have one or more heart defects. ---

Question 4

A "shunt" in congenital heart disease is best defined as

Accepted Answer

An abnormal communication between chambers or vessels — A shunt refers to an abnormal communication allowing blood to flow between chambers or vessels, bypassing normal circulation. ---

Question 5

Which condition is characterized by a "machinery-like" murmur?

Accepted Answer

Ventricular septal defect (VSD) — Patent ductus arteriosus (PDA) is classically associated with a continuous, 'machinery-like' murmur. ---

Question 6

Cyanosis is a primary clinical feature of which group of disorders?

Accepted Answer

Right-to-left shunts — Cyanosis, a bluish discoloration of the skin, results from deoxygenated blood bypassing the lungs, which occurs in right-to-left shunts. ---

Question 7

Eisenmenger syndrome occurs when

Accepted Answer

A left-to-right shunt reverses to right-to-left due to pulmonary hypertension — Eisenmenger syndrome is characterized by the reversal of a left-to-right shunt to a right-to-left shunt, caused by severe pulmonary hypertension. ---

Question 8

Which of the following is NOT one of the four cardinal features of Tetralogy of Fallot?

Accepted Answer

Left atrial dilation — The four cardinal features of Tetralogy of Fallot are overriding aorta, ventricular septal defect, right ventricular hypertrophy, and pulmonary stenosis (subpulmonic stenosis). Left atrial dilation is not a primary feature. ---

Question 9

What is the most common form of congenital heart disease (excluding bicuspid aortic valve)?

Accepted Answer

Ventricular septal defect — Ventricular septal defect (VSD) is the most common form of congenital heart disease, excluding bicuspid aortic valve. ---

Question 10

The "second heart field" in fetal development primarily populates which structures?

Accepted Answer

Outflow tract, right ventricle, and most of the atria — The second heart field contributes significantly to the formation of the outflow tract, right ventricle, and much of the atria. ---

Question 11

Which transcription factor mutation is specifically linked to DiGeorge syndrome and neural crest migration?

Accepted Answer

TBX1 — TBX1 mutation is specifically linked to DiGeorge syndrome, which involves defective neural crest migration. ---

Question 12

Paradoxical embolism is a potential complication of

Accepted Answer

Right-to-left shunts (or transient reversal of left-to-right shunts) — Paradoxical embolism occurs when an embolus from the venous system crosses to the arterial system through a right-to-left shunt, such as a patent foramen ovale or an ASD/VSD with reversed flow. ---

Question 13

Which of these is a typical "obstructive" congenital lesion?

Accepted Answer

Coarctation of the aorta — Coarctation of the aorta is an obstructive lesion characterized by a narrowing of the aorta. ---

Question 14

Secundum ASDs (90% of all ASDs) result from a deficiency in the

Accepted Answer

Septum secundum — Secundum atrial septal defects, the most common type, are due to a deficiency in the septum secundum. ---

Question 15

At birth, the closure of the foramen ovale is triggered by

Accepted Answer

Decreased pulmonary vascular pressure and increased left atrial pressure — At birth, lung expansion leads to decreased pulmonary vascular resistance, increasing pulmonary blood flow and left atrial pressure, which functionally closes the foramen ovale. ---

Question 16

"Clubbing" of the fingers is a clinical sign associated with

Accepted Answer

Chronic severe hypoxia/cyanosis — Clubbing of the fingers is a sign of chronic severe hypoxia or cyanosis, often seen in cyanotic congenital heart diseases. ---

Question 17

Most ventricular septal defects (VSDs) occur in which part of the septum?

Accepted Answer

Membranous part — The membranous part of the ventricular septum is the most common site for VSDs. ---

Question 18

In Tetralogy of Fallot, "subpulmonic stenosis" refers to

Accepted Answer

Obstruction of the right ventricular outflow tract — Subpulmonic stenosis in Tetralogy of Fallot refers to the obstruction of the right ventricular outflow tract, leading to reduced pulmonary blood flow. ---

Question 19

Which medication is used to maintain ductal patency in certain life-threatening CHDs?

Accepted Answer

Prostaglandin E1 — Prostaglandin E1 is administered to maintain the patency of the ductus arteriosus in infants with ductal-dependent congenital heart defects. ---

Question 20

Which syndrome involves a deletion on chromosome 22q11.2?

Accepted Answer

DiGeorge syndrome — DiGeorge syndrome is characterized by a microdeletion on chromosome 22q11.2, leading to various developmental abnormalities including heart defects.

Congenital Heart Disease

Questions, Answers & Explanations