TBL

Question 1

What are the examples of cardiovascular teratogens

Answer 1

rubella virus, thalidomideRA [Accutane], alcohol, and many other compounds.

Question 2

What are the targets for genetic or teratogen-induced heart defects

Answer 2

heart progenitor cells from the PHF and SHF, neural crest cells, endocardial cushions, and other cell types important for heart development

Question 3

Mutations in the TBX5 gene result in ________

Answer 3

Holt-Oram syndrome

Question 4

mutations in the heart-specifying gene NKX2.5, on chromosome 5q35 produces_____

Answer 4

ASDs, tetralogy of fallot, and atrioventricular conduction

Question 5

Holt-Oram syndrome, characterized by_______

Answer 5

pre axial [radial] limb abnormalities and ASDs and defects in the muscular portion of the inter- ventricular septum

Question 6

Holt-Oram syndrome is one of a group of ______

Answer 6

heart-hand syndromes illustrating that the same genes may participate in multiple developmental processes.

Question 7

What is the role of TBX5

Answer 7

regulates forelimb development and plays a role in septation of the heart.

Question 8

Mutations in a number of genes regulating production of sarcomere proteins causes______

Answer 8

hypertrophic cardiomyopathy

Question 9

hypertrophic cardiomyopathy results in_____

Answer 9

sudden death in athletes and the general population.

Question 10

The result is cardiac hypertrophy is due to____

Answer 10

disruption in the organization of cardiac muscle cells [myocardial disarray], which may adversely affect cardiac output and/or conduction.

Question 11

What is Ventricular inversion?

Answer 11

a defect in which the morphologic left ventricle is on the right and connects to the right atrium through a mitral valve.

Question 12

What is L-transposition of the great arteries?

Answer 12

right ventricle is on the left side and connects to the left atrium through the tricuspid valve.

Question 13

What are Hypoplastic right heart syndrome [HRHS] and hypoplastic left heart syndrome [HLHS]?

Answer 13

They are rare defects that cause an under development of the right or left sides of the heart, respectively.

Question 14

ASD is a______

Answer 14

congenital heart abnormality

Question 15

What is ostium secundum?

Answer 15

defect ie characterized by a large opening between the left and right atria.

Question 16

Ostium secundum is caused by_______

Answer 16

excessive cell death and resorption of the septum primum or by inadequate development of the septum secundum

Question 17

What is cor triloculare biventriculare?

Answer 17

complete absence of the atrial septum

Question 18

What is premature closure of the oval foramen?

Answer 18

It leads to massive hypertrophy of the right atrium and ventricle and underdevelopment of the left side of the heart.

Question 19

What are Endocardial cushions?

Answer 19

It participates in formation of the membranous portion of the inter ventricular septum and in closure of the ostium primum

Question 20

What is persistent atrioventricular canal?

Answer 20

Failure of fusion of atrioventricular cushions

Question 21

What is the ostium primum defect?

Answer 21

defect in the atrial septum, but the inter- ventricular septum is closed and usually combined with a cleft in the anterior leaflet of the tricuspid valve

Question 22

What is Tricuspid atresia?

Answer 22

involves obliteration of the right atrioventricular orifice

Question 23

Tricuspid atresia is characterized by_____

Answer 23

he absence or fusion of the tricuspid valves.

Question 24

Tricuspid atresia is always associated with _____

Answer 24

[1] patency of the oval foramen, [2] VSD, [3] underdevelopment of the right ventricle, and [4] hypertrophy of the left ventricle.

Question 25

What is Ebstein anomaly?

Answer 25

a condition where the tricuspid valve is displaced toward the apex of the right ventricle

Question 26

Ebstein anomaly results in _______

Answer 26

an expanded right atrium and a small right ventricle

Question 27

What are VSDs?

Answer 27

the most common congenital cardiac malformation, occurring as an isolated condition

Question 28

What is Tetralogy of Fallot?

Answer 28

most frequently occurring abnormality of the conotruncal region

Question 29

Tetralogy of Fallot occurs due to _______

Answer 29

an unequal division of the conus resulting from anterior displacement of the conotruncal septum.

Question 30

What are the four cardiovascular alterations that the displacement of the septum produces?

Answer 30

[1] a narrow right ventricular outflow region, pulmonary infundibular stenosis; [2] a large defect of the inter ventricular septum; [3] an overriding aorta that arises directly above the septal defect; and [4] hypertrophy of the right ventricular wall because of higher pressure on the right side.

Question 31

What is Alagille syndrome?

Answer 31

people have abnormalities in other organs, including the liver, and a characteristic face with a broad prominent forehead, deep set eyes, and a small pointed chin.

Question 32

Persistent [common] truncus arteriosus results ___________

Answer 32

when the conotruncal ridges fail to form such that no division of the outflow tract occurs

Question 33

How does Transposition of the great vessels occur?

Answer 33

when the conotruncal septum fails to follow its normal spiral course and runs straight down

Question 34

What happens in Transposition of the great vessels?

Answer 34

the aorta originates from the right ventricle, and the pulmonary artery originates from the left ventricle.

Question 35

the SHF and neural crest cells contribute to the____________

Answer 35

formation and septation of the outflow tract, respectively, insults to these cells contribute to cardiac defects involving the outflow tract.

Question 36

What is DiGeorge sequence?

Answer 36

an example of the 22q11 deletion syndrome

Question 37

DiGeorge sequence is characterized by_______

Answer 37

a pattern of malformations that have their origin in abnormal neural crest development. These children have facial defects, thymic hypoplasia, parathyroid dysfunction, and cardiac abnormalities involving the outflow tract, such as persistent truncus arteriosus and tetralogy of Fallot.

Question 38

Valvular stenosis of the pulmonary artery or aorta occurs

Answer 38

when the semilunar valves are fused for a variable distance.

Question 39

What happens in valvular stenosis of the pulmonary artery?

Answer 39

the trunk of the pulmonary artery is narrow or even atretic. The patent oval foramen then forms the only outlet for blood from the right side of the heart. The ductus arteriosus, always patent, is the only access route to the pulmonary circulation.

Question 40

What happens in aortic valvular stenosis?

Answer 40

fusion of the thickened valves may be so complete that only a pinhole opening remains. The size of the aorta itself is usually normal.

Question 41

What is Ectopia cordis?

Answer 41

rare anomaly in which the heart lies on the surface of the chest.

Question 42

Ectopia cordis is caused by________

Answer 42

failure of the embryo to close the ventral body wall