title: Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
abstract: We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy.
authors.affiliation: Department of Radiology, University Hospital Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany. Katharina_.Strach@ukb.uni-bonn.de
authors.forename: Katharina
authors.initials: K
authors.lastname: Strach
authors.forename: Torsten
authors.initials: T
authors.lastname: Sommer
authors.forename: Christian
authors.initials: C
authors.lastname: Grohé
authors.forename: Carsten
authors.initials: C
authors.lastname: Meyer
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Matthias
authors.initials: M
authors.lastname: Vorgerd
authors.forename: Peter
authors.initials: P
authors.lastname: Reilich
authors.forename: Harald
authors.initials: H
authors.lastname: Bär
authors.forename: Jens
authors.initials: J
authors.lastname: Reimann
authors.forename: Ulrike
authors.initials: U
authors.lastname: Reuner
authors.forename: Alfried
authors.initials: A
authors.lastname: Germing
authors.forename: Hans Hilmar
authors.initials: HH
authors.lastname: Goebel
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Bernd
authors.initials: B
authors.lastname: Wintersperger
authors.forename: Rolf
authors.initials: R
authors.lastname: Schröder
mesh_terms: D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D003893:Desmin / Q000172:deficiency*; D004452:Echocardiography / Q000379:methods; D004562:Electrocardiography; D005260:Female; D019786:Gadolinium DTPA; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology*; D014057:Tomography, X-Ray Computed
chemical_list: D003893:Desmin; D019786:Gadolinium DTPA