title: Clinical and pathologic study of familial dilated cardiomyopathy.
abstract: To evaluate the occurrence of familial cases of dilated cardiomyopathy (DC), 165 consecutive patients were studied. Diagnosis of myocardial disease was based on clinical, hemodynamic, bioptic, postmortem or a combination of these criteria. Twelve patients (7% of cases) showed evidence of myocardial disease in greater than or equal to 1 relative; 27 patients with myocardial disease were detected in the 12 families, but a suspected history of myocardial involvement was present in a further 16 cases. In 6 families proband and relatives were affected by DC (total 14 cases); in 1 of these families the disease began with an atrioventricular block. In 4 families the relatives showed the presence of myocarditis at the endomyocardial biopsy. In 2 families the relatives presented a right ventricular cardiomyopathy. The mode of inheritance was autosomal dominant in 7 families, recessive in 4; X-linked pattern may be hypothesized in 1. Nine patients died under the age of 45 years: 2 of sudden death, 6 of chronic heart failure and 1 of cerebral embolism. Familial transmission is not rare. Different modes of genetic transmission (autosomal dominant, recessive and X-linked) and different forms of myocardial disease suggest that familial DC may be a multifactorial disease.
authors.affiliation: Divisione di Cardiologia, Ospedale Maggiore, Trieste, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Mestroni
authors.forename: D
authors.initials: D
authors.lastname: Miani
authors.forename: A
authors.initials: A
authors.lastname: Di Lenarda
authors.forename: F
authors.initials: F
authors.lastname: Silvestri
authors.forename: R
authors.initials: R
authors.lastname: Bussani
authors.forename: G
authors.initials: G
authors.lastname: Filippi
authors.forename: F
authors.initials: F
authors.lastname: Camerini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree