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Pathoma pathology > Congenital Defects > Flashcards

Congenital Defects Flashcards

1
Q

What congenital heart defects?

A

a heart defect that is present at birth

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2
Q

When do most congenital heart defects arise?

A

Arise during embryogenesis (usually weeks 3 through 8); seen in 1% outlive births

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3
Q

How are most congenital heart defects detected?

A

Most detects are sporadic

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4
Q

What does the usual congential heart defect result?

A

Often result in shunting between left (systemic) and right (pulmonary) circulations

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5
Q

What are the effects of left to right shunting?

A
  1. Increased flow through the pulmonary circulation results in hypertrophy of pulmonary vessels and pulmonary hypertension.
  2. Increased pulmonary resistance eventually results in reversal of shunt, leading to late cyanosis (Eisenmenger syndrome) with right ventricular hypertrophy, polycythemia, and clubbing.
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6
Q

What is the usual symptom of right to left shunting?

A

Defects with right-to-left shunting usually present as cyanosis shortly after birth

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7
Q

What is Ventricular Septal Defect (VSD)?

A

a common congenital heart defect; an abnormal opening in the septum dividing the ventricles allows blood to pass directly from the left to the right ventricle; large openings may cause congestive heart failure

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8
Q

What is the associated cause of VSD?

A

Associated with fetal alcohol syndrome

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9
Q

Does the size of the VSD change the symptoms?

A

Size of defect determines extent of shunting and age
at presentation. Small defects are often asymptomatic; large defects can lead to Eisenmenger syndrome.

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10
Q

What is the treatment of VSD?

A

Treatment involves surgical closure; small defects may close spontaneously

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11
Q

How common is VSD?

A

Most common congenital heart defect

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12
Q

What is Atrial Septal Defect (ASD)?

A

An abnormal opening between the left and right atria of the heart

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13
Q

What is the most common atrial septal defect?

A

Most common type is ostium secundum (90% of cases)

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14
Q

What atrial septal defect is associated with down syndrome?

A

Ostium primum type is associated with Down syndrome

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15
Q

What is the result in ASD?

A

Results in left-to-right shunt and split S, on auscultation (increased blood in right heart delays closure of pulmonary valve)

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16
Q

What is an important complication of ASD?

A

Paradoxical emboli is an important complication.

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17
Q

What is Patent Ductus Arteriosus?

A

A ductus arteriosus that failed to close at birth; may require surgical correction

ductus arteriosus - a blood vessel in a fetus that bypasses pulmonary circulation by connecting the pulmonary artery directly to the ascending aorta; normally closes at birth

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18
Q

With which disease is patent ductus arteriosus associated with?

A

Associated with congenital rubella

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19
Q

What is the result in Patent Ductus Arteriosus?

A

Results in left-to-right shunt between the aorta and the pulmonary artery

20
Q

What are the usual symptoms in Patent Ductus Arteriosus?

A

Asymptomatic at birth with holosystolic ‘machine-like’ murmur; may lead to Eisenmenger syndrome, resulting in lower extremity cyanosis

21
Q

What is the treatment in PDA?

A

Treatment involves indomethacin, which decreases PGE, resulting in PDA closure (PGE maintains patency of the ductus arteriosus).

22
Q

What is tetralogy of Fallot?

A

A congenital malformation of the heart characterized by a defect in the ventricular septum, misplacement of the origin of the aorta, narrowing of the pulmonary artery, and enlargement of the right ventricle.

23
Q

What are the four caracteristics of tetralogy of Fallot?

A

Characterized by (1) stenosis of the right ventricular outflow tract, (2) right ventricular hypertrophy, (3) VSD, and (4) an aorta that overrides the VSD

24
Q

What is the cause of cyanosis in tetralogy of fallot?

A

Right-to-left shunt leads to early cyanosis; degree of stenosis determines the extent of shunting and cyanosis.

25
Q

What is the patients response to cyanosis in tetralogy of Fallot?

A

Patients learn to squat in response to a cyanotic spell; increased arterial resistance decreases shunting and allows more blood to reach the lungs.

26
Q

What is the x-ray finding in tetralogy of fallot?

A

“Boot-shaped’’ heart on x-ray

27
Q

What is transposition of great vessels?

A

Characterized by pulmonary artery arising from the left ventricle and aorta arising from the right ventricle

28
Q

What is transposition of the great vessels usually associated with?

A

Associated with maternal diabetes

29
Q

What is the usual symptom in the transposition of the great vessels?

A

Presents with early cyanosis; pulmonary and systemic circuits do not mix.

30
Q

Why is PGE give to patients with transposition of great vessels?

A

PGE can be administered to maintain a PDA until definitive surgical repair is performed.

31
Q

What is the result of the transposition of the great vessels?

A

Results in hypertrophy of the right ventricle and atrophy of the left ventricle

32
Q

What is Truncus Arteriosus?

A

The truncus arteriosus is a structure that is present during embryonic development. It is an arterial trunk that origintating from both ventricles of the heart that later divides into the aorta and the pulmonary trunk.

33
Q

Why does Truncus Arteriosus form?

A

Characterized by a single large vessel arising from both ventricles,Truncus fails to divide.

34
Q

What are the general features of truncus arteriosus?

A

Presents with early cyanosis; deoxygenated blood f r om right ventricle mixes with oxygenated blood from left ventricle before pulmonary and aortic circulations
separate.

35
Q

What is Tricuspid Atresia?

A

Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection.

36
Q

Why does Tricuspid Atresia form?

A

Tricuspid valve orifice fails to develop; right ventricle is hypoplastic

37
Q

What is Tricuspid Atresia usually associated with?

A

Often associated with ASD, resulting in a right-to-left shunt; presents with early cyanosis,

38
Q

What is Coarctation of the Aorta?

A

A defect that develops in the fetus in which there is a narrowing of the aortic arch, the main blood artery that delivers blood from the left ventricle of the heart to the rest of the body.

39
Q

How is the coarctation of the aorta divided?

A

classically divided into infantile and adult forms

40
Q

What is the infantile coarctation of the aorta associated with?

A

infantile form is associated with a PDA and Turner syndrome

41
Q

Where is the coarctation of the aorta present?

A

coarctation lies after (distal to) the aortic arch, but before (proximal to) the PDA.

42
Q

What is the adult coarctation of the aorta usually associated with?

A

Adult form is not associated with a PDA, but with bicuspid aortic valve

43
Q

What is the symptom in infantile coarctation of the aorta?

A

Presents as lower extremity cyanosis in infants, often at birth

44
Q

Where is the adult coarctation of the aorta present?

A

coactation lies after (distal to) the aortic arch.

45
Q

What are the symptoms in adult coarctation of the aorta?

A

Presents as hypertension in the upper extremities and hypotension with weak pulses in the lower extremities; classically discovered in adulthood

46
Q

What are the x-ray findings in adult coarctation of the aorta?

A

Collateral circulation develops across the intercostal arteries; engorged arteries cause ‘notching’ of ribs on x-ray

Pathoma pathology (7 decks)

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