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

AD, 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 mucopolysaccharidose

MPS I

MPS II

MPS CHD findings

Fatty Acid Oxidation Disorders - inheritance

Fatty Acid Oxidation Disorders - CHD

Barth syndrome inheritance

DCM and noncomplation

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