Heart defects

Question 1

Cause: abnormal neural crest cell migration, leading to partial development of the aorticopulmonary (AP) septum. Fact: It’s associated with DiGeorge Syndrome (22q11) Presentation: 1. one large vessel leaves the heart and receives blood from the rt. and left ventricles. 2. Marked cyanosis due to rt. to left shunting of blood What is the disorder?

Answer 1

Persistent truncus arteriosus (PTA)

Question 2

Cause: abnormal neural crest cell migration such that there is nonspiral development of the aorta. Fact: It’s associated with maternal diabetes Presentation: 1. Aorta arises from the rt. ventricle instead of the left ventricle as it’s supposed to. 2. Pulmonary trunk arises from the left ventricle instead of the rt. ventricle as it’s supposed to. This abnormal placement of the aorta and pulmonary trunk leads to complete separation of the systemic circulation and the pulmonary circulation. 3. It’s incompatible with life unless an accompanying shunt exists like: VSD, patent foramen ovale, or PDA. 4. Marked cyanosis du to rt. to left shunting of blood. What is the disorder?

Answer 2

D-Transposition of the great arteries

Question 3

Cause: abnormal neural crest cell migration such that there is nonspiral development of the aorta. Fact: It’s associated with maternal diabetes Presentation: 1. Aorta and pulmonary trunk are transposed 2. The ventricles are “inverted” such that the anatomical rt. ventricle lies on the left side and the anatomical left ventricle lies on the rt. side 3. The transposition of the aorta and pulmonary trunk and the inversion of the ventricles offset each other so pts. blood flow pattern is normal. What is the disorder?

Answer 3

L-transposition of the great arteries

Question 4

Cause: Sup. misalignment of the subpulmonary infundibulum due to abnormal neural crest cell migration such that there is skewed development of the AP septum Fact: it’s associated with DiGeorge syndrome (22q11) Presentation: 1.Pulmonary stenosis 2. Rt. ventricular hypertrophy 3. Overriding aorta 4. VSD 5. Marked cyanosis due to rt. to left shunting of blood. What is the disorder?

Answer 4

Tetralogy of fallot

Presentation:

Pulmonary stenosis

Rt. ventricular hypertrophy

Overriding aorta

VSD

E

Question 5

Cause: incomplete anatomic fusion of septum primum and septum secundum. Fact: Its present apporximately 25% of the population and is usually of no clinical importance. What is the disorder?

Answer 5

Probe patency of the foramen ovale

Question 6

Cause: closure of the foramen ovale during prenatal life. Presentation: It results in hypertrophy of the right side of the heart and underdevelopment of the left side of the heart. What is the disorder?

Answer 6

Premature closure of the foramen ovale

Question 7

Cause: Excessive resorption of septum primum, septum secundum, or both. Presentation: This results in a condition in which there is an opening betw. the rt. and left atria.

Answer 7

Foramen secundum defect

See picture B

Question 8

Cause: Complete failure of the septum primum and septum secundum to develop. Presentation: This results in a condition in which there is formation of only one atrium.

Answer 8

Cor triloculare biventriculare (common atrium)

See picture F

Question 9

Cause: Failure of dorsal and ventral AV cushions to fuse.

Presentation: It results in a condition in which the common AV canal never partitioned into the rt. and left AV canals, so that a large hole can be found in the center of the heart. Consequently, the tricuspid and mitral valves are represented by one valve common to both sides of the heart.

2 common hemodynamic abnormalities found are:

1. Left to right shunting of blood
   - Left to right shunting of blood from the left atrium to the right atrium, causing an enlarged rt. atrium and rt. ventricle.
2. Mitral valve regurgitation
   - Mitral valve regurgitation causes an enlarged left atrium and left ventricle

What is the disorder?

Answer 9

Persistent common AV canal