Abstract
This review summarizes the evidence concerning the imaging techniques and features to (a) diagnose and (b) risk stratify patients with, or at risk of, inherited cardiomyopathies. The inherited cardiomyopathies we have focused on are dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM) and arrhythmogenic cardiomyopathies (arrhythmogenic right ventricular cardiomyopathy (AVRC), arrhythmogenic left ventricular cardiomyopathy (ALVC) and noncompaction cardiomyopathy (NCCM)). Echocardiogram and cardiac magnetic resonance imaging (CMR) still form the foundations of the diagnosis and risk stratification of inherited cardiomyopathies. Although not yet uniformly integrated into implantable cardioverter-defibrillator (ICD) recommendations, recent advancements in the assessment of late gadolinium enhancement (LGE) on CMR represent a step forward in the diagnosis and risk stratification of inherited cardiomyopathies. We highlight the recent research on CMR, as well as on other imaging features pertinent to the diagnosis and risk stratification of inherited cardiomyopathies. Furthermore, it is important to note that we followed the Heart Rhythm Society’s recent classifications of arrhythmogenic cardiomyopathies, to include ARVC, ALVC and NCCM under a collective disease label. Inherited cardiomyopathies are a common cause of heart failure, arrhythmia and sudden cardiac death. Transthoracic echocardiography and CMR are important to reach a diagnosis and help guide future risk assessment. In the absence of CMR, cardiac CT can be an appropriate substitute; however, much less data on its diagnostic and prognostic ability exist. We have summarized the available evidence for imaging diagnosis and risk assessment for the most common inherited cardiomyopathies.
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