B4.048 Congenital Heart Disease Flashcards by Lauren Sinik

definition of CHD

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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incidence of CHD

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

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main known causes of CHD

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

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most common genetic cause of CHD

trisomy 21

40% have heart defects

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most likely cause of CHD

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

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greatest risk factor for CHD

CHD in parent or sibling

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

many of the transcription factors interact in large protein complexes

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non syndromic genes associated with CHD

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

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CHD associated with NKX205

ASD, VSD, conduction defects

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CHD associated with GATA-4

ASD, VSD

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CHD associated with TBX-20

ASD, VSD, valve abnormalities

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syndromic genes associated with CHD

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

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CHD and syndrome associated with TBX5

holt-oram

ASD, VSD, conduction defects

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CHD and syndrome associated with TBX1

diGeorge

cardiac outflow tract defects

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CHD and syndrome associated with JAG1, NOTCH2

alagille

pulm artery stenosis, ToF

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CHD and syndrome associated with fibrillin

marfan
aortic aneurysm
valve abnormalities

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which 12 disorders make up 85% of all CHDs

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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which of the 12 disorders exhibit cyanosis

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

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3 major pathophys categories of CHD

left to right shunt
right to left shunt
obstruction

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why do right to left shunts cause cyanosis

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

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what is Eisenmenger syndrome

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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what happens once irreversible pulmonary hypertension occurs in Eisenmenger syndrome?

structural defects of CHD are considered irreparable

subsequent right HF leads to patient’s death

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characterize VSDs

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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

what % of VSDs are isolated

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only 20-30%

if first detected in an adult, probably isolated

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

irreversible pulm vascular disease > shunt reversal > cyanosis > death

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

hopes of spontaneous closure

when do babies need early correction?

when they have large defects present

classification of ASDs

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

define ASD

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

characterize an ASD

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

discuss mortality associated with ASDs

low mortality | long term survival comparable to normal population

clinical features of ASDs

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

which type of ASD is associated with other anomalies

septum primum type | may be associated with mitral and tricuspid anomalies

characterize a PDA defect

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

clinical features of PDA

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

what can ultimately happen with large PDAs

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

why do toes club with PDA but not fingers?

hypoxemic blood is shunted into descending aorta

what are 3 features associated with coarctation of the aorta

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

what other defect frequently accompanies coarctation of the aorta?

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

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

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

which form is less severe?

coarctation WITHOUT pda, uless constriction is severe | usually asymptomatic well into adult life

what is particularly characteristic of coarctation of the aorta

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

murmur associated with coarctation of the aorta

when significant murmurs present throughout systole sometimes a vibratory thrill present

resolution of uncomplicated coarctation of the aorta

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

what is a simian crease?

single crease in hand associated with downs syndrome

ophthalmic exam results common in downs

Brushfield spots- speckled rings at the periphery of the irides

what type of murmur will a VSD produce??

pansystolic murmur with peak intensity in mid-systole

murmur associated with aortic stenosis

early systolic murmur transmitted to the carotid arteries

murmur associated with PDA

machinery like murmur heard throughout systole and diastole

murmur associated with mitral valve prolapse

mid systolic click

murmur associated with pulm regurg

pandiastolic murmur diminishing in intensity from early to late diastole

EKG findings in ASD

incomplete bundle branch block | slight RAD

CXR findings in ASD

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

cardiac cath findings in ASD

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

how are ASDs repaired in many cases?

placing a patch into heart through a catheter | patch placed across the ASD

B4.048 Congenital Heart Disease Flashcards

(55 cards)