Congenital heart defects Flashcards
etiology of congenital heart defects
- genetic or multifactorial
2. 2-4% CHD environmental causes
Marfan’s defect
aortic root aneurysms
Williams syndrome defect
surpravalvular A.S
Noonan’s syndrome defect
pulmonic stenosis, ASD, hypertrophoic cardiomyopathy
-PTPNII gene-> SHP-2 signals smilunar valve formation
Digeorge syndrome defect
truncus art, T or F, VSD, Ao-P window
- FISH testing: 90% microdeletion 22q11
- also in maternal pre-gestational diabetes or maternal ETOH use
Holt-Oram syndrome defect
ASD, VSD
Alagille syndrome defect
pul. stenosis, T or F, ASD, coract. of Ao
Char syndrome defect
PDA
Down syndrome
AVSD, VSD, ASD
environmental influences
folic acid deficiency poor nutrition maternal rubella febrile illnesses anticonvulsants oral retinoids ibuprofen organ solvent exposure
NKx2.5
- code for proteins involved in cardiac septal development
- mutation in which codes for less or no protein production can be associated with no cardiac defect, isolated AV block, or AV block associated with ASD, VSD, T of F or Ebstein’s malformation
trisiomy 21
50% AVSD, VSD, ASD, or T of F
trisomy 13
VSD, ASD, PDA, coract. Ao, Bicuspid Ao or Pul valves
trisomy 18
> 90% have VSD, AVSD, panvalvular disease
turner’s syndrome
bicuspid Ao valve, coract. Ao
Cri du chat syndrome
- delection 5p
- VSD, ASD, PDA
Kinefelter syndrome XXY
PDA, ASD
what happens at first breath?
decreasing pulmonary vascular resistance
diagnosis of CHD
central cyanosis
CHF
abnormal heart sounds, heart murmurs
cyanosis
- acrocyanosis
- central cyanosis
acrocyanosis
peripheral, blue hands and feet
normal newborn Hg
18
when do babies look cyanotic
- 80% O2 saturation
- 3.6 g/dl desat. Hg
how often is cyanosis checked?
24 hours of age
- with right upper and LE oximetry
- fail if 3% difference between upper and lower saturations
CHF symptoms in newborns
- tachypnea (resting rate lower than 60)
- dyspnea and grunting, mild to moderate retractions
- poor feeding/suboptimal weight gain
- tachycardia and diaphoresis
physical exam findings of newborn with CHF
hyperdynamic percordium
enlarged liver
edema of dependent portions of body
younger children symptoms with CHF
gastroenteritis with N, V, diarrhea, fatigue with exercise, anorexia, cough, tachypnea, dyspnea, diaphoresis
older children symptoms with CHF
exercise intolerance cough anorexia fatigue cardiac asthma (can wheeze)
physical exam findings in older children with CHF
rales wheezing tachypnea tachycardia hepatomegaly dependent edema
pathophysiology of CHF
decreased CO-> leads to:
- increased sympathetic tone, elevated angiotensin levels, increased mineralcorticoids, inflammation and cachexia
- increased ANP/BNP, IGF-1 and GH (protective)
- > leads to cardiac remodeling (2 inhibits, but improves CO)
physiological abnormalities resulting from heart failure
- increased fluid load to heart, increased preload
- obstruction to ventricular emptying, increased afterload
- decreased myocardial contractility
- abnormal rhythms
increased fluid load to heart, increased preload
L-R ventricular level shunts, AVM, valvular regurg., sepsis,
late: ASD, anomalous pulmonary venous return, pulmonary valve regurg, excessive intravascular fluid
obstruction to ventricular emptying, increased afterload
aortic valve stenosis, coract. or Ao
decreased myocardial contractility
constrictive pericarditis
endocardial fibroelastosis, glycogen storage disease, viral myocarditis
cardiotoxic drugs, electrolyte imbalance
abnormal rhythms
tachyarrhythmias
bradyarrhthmias
decreased pulmonary blood flow leads to
cyanotic
R-L shunt
T or F, pul. Stenosis, tricuspid atresia
pulmonary over-circulation results from/leads to
cyanosis, maybe CHF
TGA, single ventricule, tuncus art.
acyanotic, or CHF results from/leads to
L-R shunt
ASD, anomalous PVR, VSD, PDA
ventricular hypertrophy, cardiomegaly and maybe CHF results from/leads to
obstructive lesions: AS, pulmonary outflow tract obstruction, coarct. of Ao
myocardial structure function abnormalities
viral myocarditis: hypoxic, hypoglycemic or polycythemia insult to myocardium
anomalous left coronary artery, glycogen storage disease, cardiac arrhythmias
