Pathology of Congenital Heart Disease

Question 1

What are the three categories of congenital heart defects?

Answer 1

Left-to-right shunts, right-to-left shunts, obstructive/other anomalies

Question 2

The aorta dilates in patients with patent ductus arteriosus. Why is this?

Answer 2

Shunting of blood into the pulmonary artery leads to increases blood returning to the right heart. This increases CO and leads to LV remodeling and dilation of the aorta as more blood is ejected.

Question 3

This congenital anomaly is caused by obstruction at the pulmonary valve and results in RV hypertrophy.

Answer 3

Pulmonary stenosis and atresia

Question 4

What complications are associated with ventricular septal defects?

Answer 4

RV hypertrophy, pulmonary hypertension and vascular disease, Eisenmenger syndrome

Question 5

True/False. Patent foramen ovale is a type of atrial septa defect.

Answer 5

False - while a patent foramen ovale enables blood exchange through the atria, it is not a type of atrial septal defect

Question 6

What is the most common category of congenital heart defects?

Answer 6

Left-to-right shunts

Question 7

What is the clinical presentation of a patient with postductal coarctation?

Answer 7

Adolescent or adult with strong pulse and UE hypertension, but weak pulse and LE hypotension

Question 8

DiGeorge syndrome is most associated with what congenital heart disorder?

Answer 8

Persistent Truncus Arteriosus

Question 9

This congenital heart defect is characterized by narrowing of the aortic lumen, reducing blood flow to the body.

Answer 9

Coarctation of the aorta

Question 10

In cases of atrial septal defect, S2 is split. Why is this?

Answer 10

Increased volume in the right ventricle increases RV systole and prolongs closure of the pulmonic valve

Question 11

True/False. Left-to-right shunts present initially with cyanosis.

Answer 11

False. They present with no initial cyanosis. As patients decompensate, cyanosis may present with right-to-left shunting due to increased pulmonary pressure.

Question 12

What heart changes are seen with Ebstein’s anonaly of the tricuspid valve?

Answer 12

Right atrium dilation and right ventricle hypoplasia due to tricuspid regurgitation

Question 13

This congenital heart disorder is caused by failure of the pulmonary veins to join directly to the L atrium.

Answer 13

Total anomalous pulmonary venous return - blood is emptied into the RA or SVC

Question 14

True/False. Right-to-left shunts present with initial cyanosis and hypoxemia.

Answer 14

True - severe cases may cause clubbing and polycythemia

Question 15

Tetralogy of Fallow presents with cardinal features. What are they?

Answer 15

Pulmonary stenosis, right ventricle hypertrophy, overriding aorta, ventricular septal defect

Question 16

This congenital heart defect is incompatible with life without surgical intervention.

Answer 16

Transposition of the Great Arteries

Question 17

This congenital heart defect is due to incomplete closure of a fetal structure that allows blood from the aorta to enter the pulmonary artery.

Answer 17

Patent Ductus Arteriosus

Question 18

Coarctation of the aorta is most associated with what chromosomal abnormality?

Answer 18

Turner Syndrome (45, X)

Question 19

This congenital heart defect is caused by incomplete fusion of the superior and inferior endocardial cushions.

Answer 19

Atrioventricular septal defect

Question 20

What is Eisenmenger Syndrome?

Answer 20

Complication of left-to-right shunts due to increased pulmonary blood flow and pressure that ultimately leads to an inverted right-to-left shunt and cyanosis.

Question 21

This congenital heart defect is caused by complete occlusion or unequal division of the tricuspid valve.

Answer 21

Tricuspid atresia - there is little to no communication between the right atria and ventricle

Question 22

This congenital heart defect is caused by the failure of the aorticopulmonary septum to develop normally.

Answer 22

Persistent truncus arteriosus - single artery for systemic, pulmonary, and coronary circulations

Question 23

When and where will a murmur be heard in a patient with tetralogy of fallot?

Answer 23

Systolic ejection murmur at the left upper sternal border due to pulmonary stenosis

Question 24

What is a ventricular septal defect?

Answer 24

Incomplete closure of the ventricular septum allowing blood flow between the ventricles

Question 25

What is the clinical presentation of tetralogy of fallot?

Answer 25

Cyanosis, dyspnea, poor feeding, tet spells (cyanosis, tachycardia, and dyspnea after exercise)

Question 26

This congenital heart defect presents with a continuous, machinery-like murmur at the upper left sternal border.

Answer 26

Patent ductus arteriosus

Question 27

Nearly 1/3 of patients with atrioventricualr septal defect also present with this chromosomal abnormality.

Answer 27

Trisomy 21 - Down Syndrome

Question 28

Hypoplastic left atrium is associated with what congenital heart disorder?

Answer 28

Total anomalous pulmonary venous return - blood is emptying into the RA or SVC. The LV is normal because it is still pumping blood to systemic circulation

Question 29

This type of aortic coarctation presents in infancy and causes cyanosis in the lower half of the body.

Answer 29

Preductal coarctation

Question 30

What are clinical symptoms of Eisenmenger syndrome?

Answer 30

Hypoxia, cyanosis, polycythemia (increased RBCs), digital clubbing, R heart failure

Question 31

This is a congenital defect due to an opening in the atria septum that permits shunting of blood between the left and right atria.

Answer 31

Atrial septal defect

Question 32

What is the most common type of atrial septal defect?

Answer 32

Ostium secundum