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ASD with progressive AV block and a small percentage of isolated ASDs
Islated ASD with normal conduction - some with associated PS
Polyvalvular disease
Overlapping fingers
Abdmonial wall defects
Holoprosencephaly
Autosomal dominant, highly variable presentation. ~1/3 new mutations
Gene mutation in 75% of Marfan
Loeys-Dietz
Holt-Oram gene
Common CHD in Noonan
Most common Noonan mutation
TAR inheritance
Kabuki CHD
Kabuki facial finding
Tuberous Sclerosis gene
Tuberous sclerosis most common finding
Can have one or both hands involved
Must have both hands involved
TAR CHD
α-glucosidase deficiency
Pompe disease
Has infantile and late onset forms
Short PR and HUGE QRS
Cardiomyopathy in infantile form
AR mucopolysaccharidose
X-linked MPS
MPS I
MPS II
MPS CHD findings
Fatty Acid Oxidation Disorders - inheritance
Fatty Acid Oxidation Disorders - CHD
Barth syndrome inheritance
DCM and noncompaction
Barth symdrome gene mutation
Elevated CK seen in
EDMD has, DMD does not
Bilateral Pulmonary Branch Stenosis
Deletion of short arm of chomosome 5, mostly associated with VSD
Missing thumb
Paucity of bile ducts
Triangular face
Most common Alagille CHD
Noonan
Turner
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