title: High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
abstract: To determine incidence and type of major cardiac adverse events in patients with mutated desmin (DES) gene, we retrospectively reviewed baseline medical information, and examined the long-term outcomes of 28 DES patients (17 men, baseline mean age=37.7±14.4 years [min=9, max=71]) from 19 families. Baseline studies revealed skeletal muscle involvement in 21 patients and cardiac abnormalities in all but one patient. Over a mean follow-up of 10.4±9.4 years [min=1, max=35], cardiac death occurred in three patients, death due to cardiac comorbidities in two, one or more major cardiac adverse events in 13 patients. Among the 19 patients with mild conduction defects at baseline, eight developed high-degree conduction blocks requiring permanent pacing. Cardiac involvement was neither correlated with the type of DES mutation nor with the severity of skeletal muscle involvement. Our study underscores that in DES patients in-depth cardiac investigations are needed to prevent cardiac conduction system disease.
authors.affiliation: Institut de Myologie, Hôpital Pitié-Salpêtrière, APHP, Paris, France. karim.wahbi@psl.aphp.fr
authors.forename: Karim
authors.initials: K
authors.lastname: Wahbi
authors.forename: Anthony
authors.initials: A
authors.lastname: Béhin
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Murielle
authors.initials: M
authors.lastname: Dunand
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Christophe
authors.initials: C
authors.lastname: Meune
authors.forename: Patrick
authors.initials: P
authors.lastname: Vicart
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforêt
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
authors.forename: Henri Marc
authors.initials: HM
authors.lastname: Bécane
authors.forename: Thierry
authors.initials: T
authors.lastname: Kuntzer
authors.forename: Denis
authors.initials: D
authors.lastname: Duboc
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D003893:Desmin / Q000235:genetics*; D004562:Electrocardiography; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009210:Myofibrils / Q000235:genetics / Q000473:pathology*
chemical_list: D003893:Desmin; D003402:Creatine Kinase