title: Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy.
abstract: Familial restrictive cardiomyopathy is an autosomal dominant cardiomyopathy histologically characterized by myocyte hypertrophy and interstitial fibrosis. The case of a 54-year-old man diagnosed with restrictive cardiomyopathy is reported. The patient had been implanted with a two-chambered pacemaker for a complete atrioventricular block 12 years before. The family history was positive with several affected members, none of whom had findings of skeletal myopathy. Genetic analysis of the index patient revealed no troponin I mutations.
authors.affiliation: Servicio de Cardiología, Hospital Central de Asturias, Julián Clavería s/n, Oviedo, Spain.
authors.forename: Gustavo Iglesias
authors.initials: GI
authors.lastname: Cubero
authors.forename: Gary Lasa
authors.initials: GL
authors.lastname: Larraya
authors.forename: J Rodríguez
authors.initials: JR
authors.lastname: Reguero