Congenital heart defects

Question 1

etiology of congenital heart defects

Answer 1

1. genetic or multifactorial

2. 2-4% CHD environmental causes

Question 2

Marfan’s defect

Answer 2

aortic root aneurysms

Question 3

Williams syndrome defect

Answer 3

surpravalvular A.S

Question 4

Noonan’s syndrome defect

Answer 4

pulmonic stenosis, ASD, hypertrophoic cardiomyopathy

-PTPNII gene-> SHP-2 signals smilunar valve formation

Question 5

Digeorge syndrome defect

Answer 5

truncus art, T or F, VSD, Ao-P window

• FISH testing: 90% microdeletion 22q11
• also in maternal pre-gestational diabetes or maternal ETOH use

Question 6

Holt-Oram syndrome defect

Answer 6

ASD, VSD

Question 7

Alagille syndrome defect

Answer 7

pul. stenosis, T or F, ASD, coract. of Ao

Question 8

Char syndrome defect

Answer 8

PDA

Question 9

Down syndrome

Answer 9

AVSD, VSD, ASD

Question 10

environmental influences

Answer 10

folic acid deficiency 
poor nutrition 
maternal rubella
febrile illnesses
anticonvulsants
oral retinoids
ibuprofen
organ solvent exposure

Question 11

NKx2.5

Answer 11

• 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

Question 12

trisiomy 21

Answer 12

50% AVSD, VSD, ASD, or T of F

Question 13

trisomy 13

Answer 13

VSD, ASD, PDA, coract. Ao, Bicuspid Ao or Pul valves

Question 14

trisomy 18

Answer 14

> 90% have VSD, AVSD, panvalvular disease

Question 15

turner’s syndrome

Answer 15

bicuspid Ao valve, coract. Ao

Question 16

Cri du chat syndrome

Answer 16

• delection 5p

- VSD, ASD, PDA

Question 17

Kinefelter syndrome XXY

Answer 17

PDA, ASD

Question 18

what happens at first breath?

Answer 18

decreasing pulmonary vascular resistance

Question 19

diagnosis of CHD

Answer 19

central cyanosis
CHF
abnormal heart sounds, heart murmurs

Question 20

cyanosis

Answer 20

• acrocyanosis

- central cyanosis

Question 21

acrocyanosis

Answer 21

peripheral, blue hands and feet

Question 22

normal newborn Hg

Answer 22

18

Question 23

when do babies look cyanotic

Answer 23

• 80% O2 saturation

- 3.6 g/dl desat. Hg

Question 24

how often is cyanosis checked?

Answer 24

24 hours of age

• with right upper and LE oximetry
• fail if 3% difference between upper and lower saturations

Question 25

CHF symptoms in newborns

Answer 25

• tachypnea (resting rate lower than 60)
• dyspnea and grunting, mild to moderate retractions
• poor feeding/suboptimal weight gain
• tachycardia and diaphoresis

Question 26

physical exam findings of newborn with CHF

Answer 26

hyperdynamic percordium
enlarged liver
edema of dependent portions of body

Question 27

younger children symptoms with CHF

Answer 27

gastroenteritis with N, V, diarrhea, fatigue with exercise, anorexia, cough, tachypnea, dyspnea, diaphoresis

Question 28

older children symptoms with CHF

Answer 28

exercise intolerance
cough
anorexia
fatigue
cardiac asthma (can wheeze)

Question 29

physical exam findings in older children with CHF

Answer 29

rales
wheezing
tachypnea
tachycardia
hepatomegaly
dependent edema

Question 30

pathophysiology of CHF

Answer 30

decreased CO-> leads to:

1. increased sympathetic tone, elevated angiotensin levels, increased mineralcorticoids, inflammation and cachexia
2. increased ANP/BNP, IGF-1 and GH (protective)
   - > leads to cardiac remodeling (2 inhibits, but improves CO)

Question 31

physiological abnormalities resulting from heart failure

Answer 31

1. increased fluid load to heart, increased preload
2. obstruction to ventricular emptying, increased afterload
3. decreased myocardial contractility
4. abnormal rhythms

Question 32

increased fluid load to heart, increased preload

Answer 32

L-R ventricular level shunts, AVM, valvular regurg., sepsis,

late: ASD, anomalous pulmonary venous return, pulmonary valve regurg, excessive intravascular fluid

Question 33

obstruction to ventricular emptying, increased afterload

Answer 33

aortic valve stenosis, coract. or Ao

Question 34

decreased myocardial contractility

Answer 34

constrictive pericarditis
endocardial fibroelastosis, glycogen storage disease, viral myocarditis
cardiotoxic drugs, electrolyte imbalance

Question 35

abnormal rhythms

Answer 35

tachyarrhythmias

bradyarrhthmias

Question 36

decreased pulmonary blood flow leads to

Answer 36

cyanotic
R-L shunt
T or F, pul. Stenosis, tricuspid atresia

Question 37

pulmonary over-circulation results from/leads to

Answer 37

cyanosis, maybe CHF

TGA, single ventricule, tuncus art.

Question 38

acyanotic, or CHF results from/leads to

Answer 38

L-R shunt

ASD, anomalous PVR, VSD, PDA

Question 39

ventricular hypertrophy, cardiomegaly and maybe CHF results from/leads to

Answer 39

obstructive lesions: AS, pulmonary outflow tract obstruction, coarct. of Ao

Question 40

myocardial structure function abnormalities

Answer 40

viral myocarditis: hypoxic, hypoglycemic or polycythemia insult to myocardium
anomalous left coronary artery, glycogen storage disease, cardiac arrhythmias