Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

Abstract Mutations in the lamin A/C gene ( LMNA ) are known to be involved in several diseases such as Emery–Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2010-08, Vol.20 (8), p.512-516
Main Authors: Volpi, L, Ricci, G, Passino, C, Di Pierri, E, Alì, G, Maccherini, M, Benedetti, S, Lattanzi, G, Columbaro, M, Ferrari, M, Caramella, D, Tanganelli, P, Emdin, M, Siciliano, G
Format: Article
Language:English
Subjects:
Adult
Amino Acid Sequence
Cardiomyopathy, Dilated - diagnostic imaging
Cardiomyopathy, Dilated - genetics
Cardiomyopathy, Dilated - pathology
Dilated cardiomyopathy
Electrocardiography
Female
Gene Duplication
Heart - physiopathology
Heart Diseases - diagnostic imaging
Heart Diseases - genetics
Heart Diseases - physiopathology
Heart Transplantation - physiology
Humans
Immunohistochemistry
Lamin A/C
Lamin Type A - genetics
Limb-girdle muscular dystrophy
Membrane Proteins - genetics
Middle Aged
Molecular Sequence Data
Muscle Weakness - genetics
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - diagnostic imaging
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - pathology
Neurology
Nuclear Proteins - genetics
Pedigree
Phenotype
Stroke Volume - physiology
Tomography, X-Ray Computed
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Summary:Abstract Mutations in the lamin A/C gene ( LMNA ) are known to be involved in several diseases such as Emery–Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2010.03.016