TY - JOUR T1 - Emery-Dreifuss muscular dystrophy: Case report JO - Revista Portuguesa de Cardiologia (English edition) T2 - AU - Saraiva,Fátima AU - Rodrigues,Dina AU - Andrade,Helena AU - Negrão,Luís AU - Gonçalves,Lino AU - Marinho,António AU - Providência,Luís A. SN - 21742049 M3 - 10.1016/j.repce.2012.01.010 DO - 10.1016/j.repce.2012.01.010 UR - https://revportcardiol.org/en-emery-dreifuss-muscular-dystrophy-case-report-articulo-S2174204912000141 AB - Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances. We describe the case of a young male, aged 16, with first-degree atrioventricular (AV) block and limited extension of both forearms. He had elevated CK, and cardiac monitoring showed severe conduction tissue disease, with significant sinus pauses, chronotropic incompetence and periods of AV dissociation during exercise. Immunohistochemical staining using an emerin antibody showed absence of the protein in a fragment of muscle tissue and genetic study identified a mutation associated with EDMD1. Study of his brother, aged 21, also established a diagnosis of EDMD1. Both individuals received a permanent pacemaker but musculoskeletal manifestations at that time did not warrant any other intervention. Screening for certain genetic diseases, including muscular dystrophies, is mandatory following identification of conduction abnormalities in young people. ER -