congential Flashcards
1
Q
Down Syndrome
A
AVCD
ASD
VSD
TOF
Trisomy 21
2
Q
Turner Syndrome
A
CoA
BAV
AS
HLHS
Chromosome X Monosomy
3
Q
DiGeorge Syndrome
A
Conotuncal defects
IAA
truncus A
TOF
Catch 22
Genetic 22q11.2 deletion
4
Q
Williams’s Syndrome
A
supravalvular AS
PPS
sudden death
genetic chromosome 7q11.23 (elastin)
5
Q
Noonan Syndrome
A
PS
ASD
HOCM
Genetic multiple
6
Q
Kabuki Syndrome
A
CoA
ASD
AS
MS
HLHS
Genetic KMT2D KDM6.4
7
Q
Carcinoid Syndrome
A
Tricupsid & Pulmonic valve disease
2/2 serotonin from tumor
8
Q
Alagille Syndrome
A
PPS
PS
TOF
Genetic JAGI Notch2
9
Q
Ebstein Anomaly
A
Sail like anterior TV leaflet
Secundum ASD
SVT
Genetic ?
10
Q
Barlow’s Syndrome
A
Myxomatous mitral with bileaflet prolapse
Genetic ?
11
Q
Shone Complex
A
CoA
BAV
AS
HLHS
parachute MV
supravalvular mitral ring
subaortic stenosis
Genetic ?