Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
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.
Strach
Katharina
K
Department of Radiology, University Hospital Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany. Katharina_.Strach@ukb.uni-bonn.de
Sommer
Torsten
T
Grohé
Christian
C
Meyer
Carsten
C
Fischer
Dirk
D
Walter
Maggie C
MC
Vorgerd
Matthias
M
Reilich
Peter
P
Bär
Harald
H
Reimann
Jens
J
Reuner
Ulrike
U
Germing
Alfried
A
Goebel
Hans Hilmar
HH
Lochmüller
Hanns
H
Wintersperger
Bernd
B
Schröder
Rolf
R
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
D003893:Desmin; D019786:Gadolinium DTPA