Table 1.

Comparison of differences and similarities between congenital heart disease and cardiomyopathy

	Congenital Heart Disease	Cardiomyopathy
Differences
Phenotype	Wide spectrum of cardiac malformations including the valves, septa, and great vessels	Dilation or hypertrophy of the myocardium +/− disease of the conduction system; results in HF or SCD
Expression	Present at birth by definition	Typical disease onset is in adolesence or adulthood, but can express at any age
Genetics	LoF mutations in transcription factor genes and other signaling molecules that disturb molecular pathways during cardiac development	Mutations in structural genes involving proteins of the sarcomere, cellular cytoskeleton, or ion channels
Population Attributable Risk of Genetic Causes	5–10%	50–70%
Clinical Genetic Testing	Not recommended except in rare syndromic cases	Recommended in most familial cases
Similarities
Phenotype	Several syndromes with CHD and congenital CMP; Co-occurrence of LVNC with CHD
Expression	Congenital cardiomyopathies occurring in the setting of CHD
Genetics	Multiple shared pathways between heart development and myocardial disease; Few genes that cause both CHD and congenital CMP; Multiple genes that cause CHD have altered expression in the setting of heart failure

HF Heart Failure, SCD Sudden Cardiac Death, LoF Loss of Function, CHD Congenital Heart Disease, CMP Cardiomyopathy, LVNC Left Ventricular Non-Compactum