Cardiac MRI of Hereditary Cardiomyopathy

Hereditary cardiomyopathy comprises a heterogeneous group of diseases of the cardiac muscle that are characterized by the presence of genetic mutations. Cardiac MRI is central to evaluation of patients with cardiomyopathy owing to its ability to allow evaluation of many different tissue properties in a single examination. For example, cine MRI is the standard of care for assessment of myocardial structure and function. It clearly shows regions of asymmetric wall thickening that are typical of hypertrophic cardiomyopathy and allows it to be differentiated from other hereditary disorders such as Fabry disease or transthyretin cardiac amyloidosis that produce concentric hypertrophy. Late gadolinium enhancement provides a different tissue property and allows these latter two causes of concentric hypertrophy to be distinguished on the basis of their enhancement appearances (Fabry disease shows midwall basal inferolateral enhancement, and amyloidosis shows global subendocardial enhancement). Native T1 mapping may similarly allow differentiation between Fabry disease and amyloidosis without the use of contrast material. T2*-weighted MRI is important in the detection and quantification of iron overload cardiomyopathy. Other hereditary entities for which comprehensive MRI has proven essential include Danon disease, familial dilated cardiomyopathy, hereditary muscular dystrophy, arrhythmogenic right ventricular cardiomyopathy, and ventricular noncompaction. As a result of the diagnostic power of cardiac MRI, cardiac MRI examinations are being requested with increasing frequency, not only in academic centers but also in community practices. The genetic background, pathophysiologic characteristics, and clinical presentation of patients with hereditary cardiomyopathy are described; the characteristic cardiac MRI features of hereditary cardiomyopathy are discussed; and the role of MRI in risk stratification, treatment, and prognostication in patients with cardiomyopathy is reviewed. ©RSNA, 2022 Online supplemental material is available for this article.