Congenital cardiac abnormalities Flashcards
Incidence and etiology
approx 8/1000 births
majority are multifactorial (e.g. rubella, alcohol, retinoic acid, maternal diabetes/lupus)
- 10% associated with genetic syndromes
90% from isolated embryologic malformation or undefined genetic lesions
Isomerism
Both right or left features
Happens due to wrong rotation of abdominal/thoracic contents –> rotation of cardiac skeleton goes wrong as well
Right isomerism
Sometimes results in a pattern of visceral abnormalities described as “asplenia syndrome” - liver is midline, both lungs trilobed, both bronchi symmetrical and short, spleen is hypoplastic/absent
Heart abnormality:
• IVC may connect to either right atrium, SVC are often lateralized and separate.
• the pulmonary veins are draining anomalously to one or other right atrium, but frequently this is indirect and/or obstructed.
• Often have AV septal defectpresents with cyanosis.
Left isomerism
2 left-sided atria
frequently have malrotation of the gut
heart abnormality usually less severe than right isomerism
tend to develop atrial arrhythmias
General Hx for cardiac
o Pregnancy Hx, family Hx of CHD/sudden death
o Feeding/Growth, Activity, Color, Breathing, Wake/sleep, faints/spells, palpitations, exercise tolerance, Chest pain.
General PE for cardiac
o Vital signs. BP in 4 limbs o Work of breathing o Vascular congestion/liver (enlarged?)/lungs (sounds)/soft tissues (signs of edema) o Cardiac activity/rhythm o Murmurs timing and quality o Look for signs of cyanosis/clubbing
General investigations for cardiac
o Basic lab testing: CBC (look for anemia)/Renal/Electrolytes/Liver function
o ECG
o Echocardiography
o Radiography: CT/MRI/PET/nuclear
o Cardiac catheterization-hemodynamics angiocardiography
ASD: signs and symptoms
Volume overload in RA, RV –> RA enlargement –> atrial arrhythmias
dyspnea on exertion, fatigue, recurrent LRTI
Widened S2 splitting
Meddiastolic murmur (tricuspid)
RV heave
ASD: Dx features
CXR: enlarged RA, RV, PA
ECG: RV hypertrophy with RA enlargement, partial/complete RBBB
Doppler echo (high sensitivity): RA, RV enlargement, transatrial shunt
O2 sat in RV > SVC
ASD: natural hx and treatment
occasional PVD –> ES –> hypoxemia + cyanosis
could remain asymptomatic
invasive surgery
pc repair with closure device via IV catheter
VSD: signs and symptoms
CHF
holosystolic murmur (through VSD) at left sternal border
RV heave
if ES, decreased holosystolic murmur, palpable RV heave, loud P2, cyanosis
Turbulent flow –> damage to endocardium –> endocarditis
VSD: Dx features
CXR: cardiomegaly, prominent PA
ECG: LVH with LA enlargement; RV hypertrophy if PVD
Doppler: determine location, magnitude, direction of VSD; estimate RV systolic pressure
O2 sat in RV>RA
VSD: natural Hx and Tx
occasional PVD (if severe VSD) –> ES –> hypoxemia + cyanosis
may spontaneously close by 2 yo
invasive surgery indicated for CHF/PVD
antibiotic prophylaxis for endocarditis
PDA: S&S
LA dilations –> a fib
moderate PDAs –> fatigue, dyspnea, palpitations
large PDAs –> CHF
continuous machine-like murmur at L subclavicular region(PDA)
if PVD, decreased pressure gradient –> shortened murmur
if ES –> lower extremity clubbing + cyanosis, upper not affected because proximal aorta not affected
endocarditis
PDA: Dx features
CXR: LA, LV, PA enlargement
ECG: LA, LV enlargement; RVH if PVD
Doppler: visualize +demonstrate flow through PDA; estimate R-sided systolic pressure
cardiac cath unnecessary
PDA: natural hx and tx
occasional PVD –> ES –> hypoxemia + cyanosis in LOWER EXTREMITY ONLY
may spontaneously close in 1st months
pharmacological indomethacin (PG synthesis inhibitor) to close PDA
invasive surgery
IV catheter - occluding coil/other vasc occlusion device
TOF: S&S
VSD + pulmonary stenosis + overriding aorta + RVH
dyspnea on exertion, irritability, cyanosis, clubbing, hyperventilation(syncope, convulsion if severe)
severe pulm stenosis –> RV heave, single S2 (no P2)
systolic ejection murmur (turbulent flow through stenotic RVOT)
TOF: Dx features
CXR: boot-shaped heart (enlarged RA, undersized PA)
ECG: RVH, R-axis deviation
Doppler: RVOT anatomy, misaligned VSD, RVH
TOF: natural hx and tx
LV overload, chronic cyanosis
palliative surgical L–> R shunt between aorta and PA, until definitive surgical repair
invasive surgery to close VSD; enlarge RVOT with pericardial patch
prophylaxis for endocarditis
TGA: S&S
deoxy blood shunted from R heart –> periphery –> R heart, extreme hypoxia, cyanosis
rapidly progressing cyanosis as PDA progresses
RV faces systemic pressures –> RV heave
not many prominent murmurs
TGA: Dx features
CXR: normal, slightly narrower base
ECG: RVH
doppler: visualize abnormal disconcordant ventriculoarterial connections
TGA: natural hx and tx
lethal
pharmacological PG infusion –> open PDA
Rashkind pc procedure –> create interatrial communication via balloon catheter
Jatene surgical procedure –> arterial switch (must also relocate coronary arteries)
AC: S&S
LVH –> CHF symptoms
compensatory collaterals –> may erode rib undersurface
if preductal coarct + PDA –> upper body well-perfused, lower hypoxic
weak and delayed femoral pulses
elevated BP in upper body
midsystolic murmur (through coarct)
AC: Dx features
CXR: inferior notching of posterior ribs (dilated collaterals), indented aorta
ECG: LVH
Doppler - confirms diagnosis assess pressure gradient across coarct
MRI: length and severity
AC: natural hx and tx
decreased perfusion to lower limbs
secondary HTN in upper body
pressure differential btw upper & lower
exercise-induced fatigue (claudication)
PG infusion in severely obstructed neonates –> PDA
invasive surgery - end-to-end reanastamosis
transcatheter balloon + stent
prophylaxis for endocarditis
