Cardiac Anomalies - Genetic Ass. Flashcards
1
Q
DiGeorge (22q11 deletion)
A
TOF, interrupted aortic arch, truncus arteriosus
2
Q
Downs
A
VSD*, AV canal defects (i.e. endocardial cushion defects - pAVSD, complete AVSD), ASD
3
Q
Turners
A
Coarctation of Aorta
4
Q
Trisomy 13, 18
A
VSD
5
Q
Crit du chat
A
VSD
6
Q
Marfan
A
Aortic root dilation, aortic dissection
7
Q
Noonan
A
Pulmonary stenosis, hypertrophic cardiomyopathy
8
Q
Holt Oram Syndrome
A
ASD, VSD
9
Q
Lithium
A
Epstein’s anomaly
10
Q
Alcohol (foetal alcohol syndrome)
A
ASD, VSD
11
Q
Lupus
A
Congenital heart block
12
Q
Coxsackie B
A
Neonatal myocarditis
13
Q
Maternal diabetes
A
Hypertrophic cardiomyopathy, TGA
14
Q
PKU
A
ASD, VSD, complex CHD
