Cardiomyopathy, Dilated 2L
OMIM number: 621237
Comments closing date: 14/09/2026
Dilated cardiomyopathy 2L (abbreviated to CMD2L) is a severe condition which is apparent in
new-born children or develops within the first year of life, where the chambers of the heart (the
ventricles and atria) become enlarged affecting its ability to pump blood effectively. Additionally,
skeletal abnormalities have been noted including wrist contractures (causing major loss of normal
wrist movement) and talipes (clubfoot). It is caused by a mutation in the LDB3 gene on chromosome 10 and results in an extremely short life expectancy of only a few years into infancy at most, and is described as a lethal gene mutation. Treatment is directed towards reducing the
chances of heart failure using a number of drug therapies and treatment for skeletal muscle weakness.
