Myocardial Inflammation and Sudden Death in the Inherited Cardiomyopathies

The best studied of the inherited cardiomyopathiesdhypertrophic (HCM), dilated (DCM) and arrhythmogenic (ACM)dpresent overlapping clinical phenotypes with varying, often unrecognized, risk of sudden death.Risk assessment is informed by patient sex and by the specific disease-causing variant.HCM and arrhythmogenic right ventricular cardiomyopathy (ARVC) remain important causes of sudden death.A phenotype mimicking DCM in patients with inherited ACM is associated with premature sudden death in families with overlapping DCM and ACM phenotypes.The role of inflammation as a determinant of disease development and progression and sudden death is poorly understood but potentially important.Sudden death registries report myocarditis as the cause in 5% to 13%; examination of 30 hearts from victims of ARVC sudden death found focal myocarditis in areas of myocyte necrosis in 20 (67%).The link to specific disease-causing variants remains to be explored, including genetic determinants of R ESUM ELes cardiomyopathies h er editaires qui sont les mieux etudi ees, soit les formes hypertrophiques (CMH), dilat ees (CMD) et arythmogènes (CMA), pr esentent des ph enotypes cliniques communs ainsi qu'un risque variable, souvent non d etect e, de mort subite.L' evaluation des risques est fond ee sur le sexe du patient et le variant sp ecifique causant la maladie.La CMH et la cardiomyopathie ventriculaire droite arythmogène (CVDA) sont des causes importantes de mort subite.Un ph enotype imitant la CMD chez les patients atteints de CMA h er editaire est associ e à la mort subite pr ematur ee au sein des familles pr esentant les ph enotypes de ces deux maladies.Le rôle de l'inflammation dans l'apparition et la progression de la maladie et la mort subite est mal compris, mais pourrait être important.Les registres sur la mort subite indiquent que la myocardite est en cause dans de 5 à 13 % des cas; l'examen de 30 cœurs de personnes victimes de mort subite cons ecutive à une CVDA a r ev el e une myocardite focale Cardiomyopathies are heart muscle disorders that are not explained by the presence of a systemic disease or by coexistent ischemic, hypertensive or valvular heart disease.Hypertrophic, dilated, and arrhythmogenic cardiomyopathy (HCM, DCM, ACM) are defined by the predominant clinical phenotype, but there is often overlap, such as with ACM and DCM. 1 A sizable proportion is familial and associated with incomplete disease expression and age-related penetrance.Variants in disease-causing genes encoding sarcomeric, cytoskeletal, and desmosomal proteins are recognized in the majority of familial cases.Prevalence studies have been based on clinical phenotypes but, in general, have not included familial or genetic evaluation.Epidemiologic data suggest prevalence of clinical disease in adults of 1:500 for HCM.Most studies excluded persons who fulfilled diagnostic criteria for HCM (ie, unexplained left ventricular hypertrophy 1.5 cm) but had coexistent hypertension.The 2 conditions, both relatively common, may coexist and the probability is the prevalence of HCM is between 1:350 and 1:500. 2 This figure potentially includes a small number of patients with nonsarcomeric but inherited HCM: for example, Noonan syndrome and Fabry disease, in whom the associated phenotypes have not been recognized.The prevalence of DCM has been estimated to be up to 1:250.This is based on extrapolation from the number of patients with unexplained heart failure entered into clinical trials, not on case-controlled epidemiologic studies.The prevalence figure of 1:250 will include patients with inherited, idiopathic, or inflammatory DCM and some with inherited ACM. 2 Prevalence data for arrhythmogenic cardiomyopathy (ACM) (estimated 1:2500) and restrictive (RCM) (rare) are less robust. 2 HCM, arrhythmogenic right ventricular cardiomyopathy (ARVC), and other ACMs are important causes of sudden death in the young. Sudden DeathData on sudden death in the inherited cardiomyopathies arise from disease-related natural history and outcome

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