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ANATOMY > TBL > Flashcards

TBL Flashcards

1
Q

What are the examples of cardiovascular teratogens

A

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

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2
Q

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

A

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

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3
Q

Mutations in the TBX5 gene result in ________

A

Holt-Oram syndrome

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4
Q

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

A

ASDs, tetralogy of fallot, and atrioventricular conduction

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5
Q

Holt-Oram syndrome, characterized by_______

A

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

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6
Q

Holt-Oram syndrome is one of a group of ______

A

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

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7
Q

What is the role of TBX5

A

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

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8
Q

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

A

hypertrophic cardiomyopathy

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9
Q

hypertrophic cardiomyopathy results in_____

A

sudden death in athletes and the general population.

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10
Q

The result is cardiac hypertrophy is due to____

A

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

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11
Q

What is Ventricular inversion?

A

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

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12
Q

What is L-transposition of the great arteries?

A

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

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13
Q

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

A

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

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14
Q

ASD is a______

A

congenital heart abnormality

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15
Q

What is ostium secundum?

A

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

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16
Q

Ostium secundum is caused by_______

A

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

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17
Q

What is cor triloculare biventriculare?

A

complete absence of the atrial septum

18
Q

What is premature closure of the oval foramen?

A

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

19
Q

What are Endocardial cushions?

A

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

20
Q

What is persistent atrioventricular canal?

A

Failure of fusion of atrioventricular cushions

21
Q

What is the ostium primum defect?

A

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

22
Q

What is Tricuspid atresia?

A

involves obliteration of the right atrioventricular orifice

23
Q

Tricuspid atresia is characterized by_____

A

he absence or fusion of the tricuspid valves.

24
Q

Tricuspid atresia is always associated with _____

A

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

25
Q

What is Ebstein anomaly?

A

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

26
Q

Ebstein anomaly results in _______

A

an expanded right atrium and a small right ventricle

27
Q

What are VSDs?

A

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

28
Q

What is Tetralogy of Fallot?

A

most frequently occurring abnormality of the conotruncal region

29
Q

Tetralogy of Fallot occurs due to _______

A

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

30
Q

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

A

[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.

31
Q

What is Alagille syndrome?

A

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.

32
Q

Persistent [common] truncus arteriosus results ___________

A

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

33
Q

How does Transposition of the great vessels occur?

A

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

34
Q

What happens in Transposition of the great vessels?

A

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

35
Q

the SHF and neural crest cells contribute to the____________

A

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

36
Q

What is DiGeorge sequence?

A

an example of the 22q11 deletion syndrome

37
Q

DiGeorge sequence is characterized by_______

A

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.

38
Q

Valvular stenosis of the pulmonary artery or aorta occurs

A

when the semilunar valves are fused for a variable distance.

39
Q

What happens in valvular stenosis of the pulmonary artery?

A

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.

40
Q

What happens in aortic valvular stenosis?

A

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

41
Q

What is Ectopia cordis?

A

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

42
Q

Ectopia cordis is caused by________

A

failure of the embryo to close the ventral body wall

ANATOMY (1 decks)

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