From: Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families
Pedigree | Genotype | Clinical data |
---|---|---|
III.2 | + | DCM |
III.4 | + | DCM, heart transplant |
IV.1 | + | AVSD |
III.6 | - | VT |
III.9 | - | VSD |
II.1 | NA | PPM/ICD |
II.3 | NA | PPM, SCD |
II.5 | NA | SCD, CAD |
II.7 | NA | Tricuspid atresia, right ventricular hypoplasia, PS, VSD |
II.10 | NA | Cyanotic heart disease, SCD |
III.3 | NA | SCD |