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RC Test 3 > B4.048 Congenital Heart Disease > Flashcards

B4.048 Congenital Heart Disease Flashcards

1
Q

definition of CHD

A

abnormalities of the heart and great vessels present from birth
may be symptomatic at birth, infancy and childhood, or become apparent only later in life
may be isolated or part of a syndrome (downs, diGeorge)
may be major or minor

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2
Q

incidence of CHD

A

1% of all newborns
among most prevalent birth defects
most common type of pediatric heart disease

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3
Q

main known causes of CHD

A

single gene mutations
small chromosomal deletions
additions/deletions of whole chromosomes (trisomies and monosomies)
environmental causes

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4
Q

most common genetic cause of CHD

A

trisomy 21

40% have heart defects

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5
Q

most likely cause of CHD

A

combination of multifactorial effects of several genes, maternal, and environmental factors

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6
Q

greatest risk factor for CHD

A

CHD in parent or sibling

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7
Q

why might mutations in any one of several genes produce similar defects?

A

many of the transcription factors interact in large protein complexes

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8
Q

non syndromic genes associated with CHD

A

NKX2-5
GATA-4
TBX-20
all function as transcription factors

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9
Q

CHD associated with NKX205

A

ASD, VSD, conduction defects

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10
Q

CHD associated with GATA-4

A

ASD, VSD

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11
Q

CHD associated with TBX-20

A

ASD, VSD, valve abnormalities

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12
Q

syndromic genes associated with CHD

A

TBX5 - transcription factor
TBX1- transcription factor
JAG1, NOTCH2- notch signaling
fibrillin- structural protein, TGFB signaling

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13
Q

CHD and syndrome associated with TBX5

A

holt-oram

ASD, VSD, conduction defects

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14
Q

CHD and syndrome associated with TBX1

A

diGeorge

cardiac outflow tract defects

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15
Q

CHD and syndrome associated with JAG1, NOTCH2

A

alagille

pulm artery stenosis, ToF

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16
Q

CHD and syndrome associated with fibrillin

A

marfan
aortic aneurysm
valve abnormalities

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17
Q

which 12 disorders make up 85% of all CHDs

A 
VSD (40%)
ASD (10%)
pulm stenosis
PDA (7%)
ToF (5%)
coarctation of the aorta (5%)
AV septal defect
aortic stenosis
transposition of great vessels
truncus arteriosus
total PV connection
tricuspid atresia
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18
Q

which of the 12 disorders exhibit cyanosis

A 
ToF
transposition of great vessels
truncus arteriosus
total PV connection
tricuspid atresia
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19
Q

3 major pathophys categories of CHD

A

left to right shunt
right to left shunt
obstruction

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20
Q

why do right to left shunts cause cyanosis

A

pulmonary circulation is bypassed and poorly oxygenated blood shunts directly into systemic arterial supply

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21
Q

what is Eisenmenger syndrome

A

when a left to right shunt becomes a right to left shunt
this happens because pulm blood flow and pressure is increased by shunt leading to hypertrophy and constriction by pulmonary arteries as well as RV hypertrophy
eventually, pulm vascular resistance approaches systemic levels and the shunt switches to become a right to left shunt that introduces poorly oxygenated blood into the systemic circulation

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22
Q

what happens once irreversible pulmonary hypertension occurs in Eisenmenger syndrome?

A

structural defects of CHD are considered irreparable

subsequent right HF leads to patient’s death

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23
Q

characterize VSDs

A

incomplete closure of the ventricular septum
may be isolated or part of a complex
muscular or membranous (90%) part of the septum
solitary or multiple
large in membranous, small in muscle usually
50% of small defects close spontaneously

24
Q

what % of VSDs are isolated

A

only 20-30%

if first detected in an adult, probably isolated

25
Q

what is the eventual fate of patients with large, unclosed VSDs

A

irreversible pulm vascular disease > shunt reversal > cyanosis > death

26
Q

why is surgical/catheter based closure of an asymptomatic VSD delayed?

A

hopes of spontaneous closure

27
Q

when do babies need early correction?

A

when they have large defects present

28
Q

classification of ASDs

A

ASD secundum type (90%) - defect of fossa ovalis
ASD primum type - adjacent to AV valves, associated with cleft anterior mitral leaflet
ASD of sinus venosus- near entrance of superior vena cava

29
Q

define ASD

A

abnormal, fixed openings in the atrial septum caused by incomplete tissue formation that allows communication of blood between left and right atria
usually asymptomatic until adulthood

30
Q

characterize an ASD

A

murmur due to excessive flow through the pulmonary valve (turbulence)
usually asymptomatic until age 30
irreversible pulm hypertension unusual
surgical closure prevents serious complications

31
Q

discuss mortality associated with ASDs

A

low mortality

long term survival comparable to normal population

32
Q

clinical features of ASDs

A

mild L > R shunt, acyanotic
pulm blood flow 2-8x normal
pulmonary valve murmur often present

33
Q

which type of ASD is associated with other anomalies

A

septum primum type

may be associated with mitral and tricuspid anomalies

34
Q

characterize a PDA defect

A

usually DA closes functionally within 10-15 hrs, anatomically 2-3 days after birth
PDA normal in premature babies
indomethacin may induce closure

35
Q

clinical features of PDA

A

left to right shunt
continuous, harsh machinery murmur
clinical impact depends on diameter and cardiovascular status of individual

36
Q

what can ultimately happen with large PDAs

A

additional volume and pressure overloads pulm circulation leading to a shunt reversal (from L > R to R > L) causing cyanosis and clubbing of toes

37
Q

why do toes club with PDA but not fingers?

A

hypoxemic blood is shunted into descending aorta

38
Q

what are 3 features associated with coarctation of the aorta

A
  1. hypertension in upper parts of the body, hypotension or normal in lower parts
  2. anastomoses develop between subclavian artery and aorta through intercostal arteries
  3. notching of ribs due to dilated intercostal arteries
39
Q

what other defect frequently accompanies coarctation of the aorta?

A

50% of the time is accompanies by a bicuspid aortic valve

may be associated with aortic stenosis, ASD, VSD, mitral regurg, or berry aneurysms of the circle of willis

40
Q

what are the 2 classic forms of coarctation of the aorta?

A
  1. infantile form- often symptomatic in early childhood with tubular hypoplasia of aortic arch proximal to PDA
  2. adult form with discrete, ridge-like infolding of the aorta, just opposite closed DA
41
Q

which form is less severe?

A

coarctation WITHOUT pda, uless constriction is severe

usually asymptomatic well into adult life

42
Q

what is particularly characteristic of coarctation of the aorta

A

collateral circulation between the pre-coarctation and post-coarctation arteries through enlarged intercostal and internal mammary arteries
produce visible erosions of the ribs

43
Q

murmur associated with coarctation of the aorta

A

when significant
murmurs present throughout systole
sometimes a vibratory thrill present

44
Q

resolution of uncomplicated coarctation of the aorta

A

surgical resection and end to end anastomosis
OR
replacement of the affected aortic segment by a prosthetic graft

45
Q

what is a simian crease?

A

single crease in hand associated with downs syndrome

46
Q

ophthalmic exam results common in downs

A

Brushfield spots- speckled rings at the periphery of the irides

47
Q

what type of murmur will a VSD produce??

A

pansystolic murmur with peak intensity in mid-systole

48
Q

murmur associated with aortic stenosis

A

early systolic murmur transmitted to the carotid arteries

49
Q

murmur associated with PDA

A

machinery like murmur heard throughout systole and diastole

50
Q

murmur associated with mitral valve prolapse

A

mid systolic click

51
Q

murmur associated with pulm regurg

A

pandiastolic murmur diminishing in intensity from early to late diastole

52
Q

EKG findings in ASD

A

incomplete bundle branch block

slight RAD

53
Q

CXR findings in ASD

A

cardiomegaly
prominent pulm artery segment (due to increased flow)
and prominent pulm vasculature

54
Q

cardiac cath findings in ASD

A

elevated pulm wedge pressure, pulm artery pressure, RV pressure
elevated RV and RA O2 sat

55
Q

how are ASDs repaired in many cases?

A

placing a patch into heart through a catheter

patch placed across the ASD

RC Test 3 (22 decks)

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