The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care

Kaul, Karen L.; Sabatini, Linda M.; Tsongalis, Gregory J.; Caliendo, Angela M.; Olsen, Randall J.; Ashwood, Edward R.; Bale, Sherri; Benirschke, Robert; Carlow, Dean; Funke, Birgit H.; Grody, Wayne W.; Hayden, Randall T.; Hegde, Madhuri; Lyon, Elaine; Murata, Kazunori; Pessin, Melissa; Press, Richard D.; Thomson, Richard B.

Inherited cardiomyopathies are common disorders and include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and restrictive cardiomyopathy. 109, 110 Several characteristics of all inherited cardiomyopathies provide compelling reasons for genetic testing and include (1) a substantial genetic component with detection rates currently ranging between 30% and 50%, 111, 112 (2) long presymptomatic phases with acute disease onset typically not before adolescence, and (3) a predisposition to sudden cardiac death (SCD), which can be the first presenting sign. Frequent and heartbreaking publicity following cases of sudden death of competitive athletes has brought these diseases to public attention, 113 and a recent study shows that 16% of SCD cases are due to an underlying unrecognized inherited cardiomyopathy. 114 The importance of these heritable abnormalities is underscored by the fact that nearly a third of the genes for which the ACMG recommends return of results, regardless of the test indication, are made up of these cardiomyopathy genes.