The genetics of cardiac amyloidosis.

Heart Failure Reviews
Scott Arno, Jennifer Cowger


Heritable cardiac amyloidosis (CA) is an underrecognized cause of morbidity and mortality in the USA. It results from the accumulation of the misfolded protein transthyretin within the myocardium, resulting in amyloid transthyretin-associated cardiomyopathy (ATTR-CM). Over 150 different pathologic point mutations within the transthyretin gene have been identified, each carrying variable clinical phenotypes and penetrance. In the USA, the most common cause of hereditary ATTR is the Val122Ile point mutation, with a prevalence of 3.4-4.0% in North Americans of African and Caribbean descent. Among Caucasians with hereditary ATTR-CM, the V30M mutation is the most commonly identified variant. Overall, the incidence of ATTR disease in the USA has been increasing, likely due to an increase in practitioner awareness, utilization of new non-invasive imaging technologies for ATTR diagnosis, and the growth of multidisciplinary amyloid programs across the country. Yet significant numbers of patients with evidence of left ventricular thickening on cardiac imaging, senile aortic stenosis, and/or symptoms of heart failure with preserved ejection fraction likely have undiagnosed CA, especially within the African American population. With the em...Continue Reading

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Cardiac amyloidosis is a myocardial disease characterized by extracellular amyloid infiltration throughout the heart. Discover the latest research on cardiac amyloidosis here.