Pathogenic Transthyretin Gene Mutations In Phenotypic Hypertrophic Cardiomyopathy: An Underrecognized Double Whammy

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiomyopathy with a prevalence of 1 in 500 patients. Genetic testing is generally recommended in order to differentiate between other cardiomyopathies with left ventricular (LV) hypertrophy such as hypertensive heart disease and cardiac amyloidosis (CA). Transthyretin cardiac amyloidosis (ATTR-CA) may occur either spontaneously or due to pathogenic gene mutations; in particular, the Val142Ile mutation may be present in as many as 3-4% of African American (AA) adults.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 113 Source Type: research