title: Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.
abstract: The case of a family in which several members displayed conduction defects inherited as a dominant trait is reported. The proband was a young woman with a 1st degree atrio-ventricular block and high serum creatine kinase. Several members of the family featured cardiologic symptoms. All adult family members were clinically evaluated and blood tests including serum creatine-kinase levels, standard and Holter ECG, echocardiogram and muscle MRI were performed. LMNA gene analysis was carried out and a novel missense mutation consisting in substitution of exon 4 c.799 T/C, p.Tyr267His was revealed. The mutation was present in seven family members, five of whom displayed cardiac defects alone with no involvement of the skeletal muscle. In all mutated individuals muscle MRI featured a pattern of skeletal muscle involvement similar to that observed in autosomal dominant Emery Dreifuss muscular dystrophy, suggesting that even patients bearing a LMNA gene mutation associated to an apparently selective cardiac phenotype may present subclinical skeletal muscle involvement.
authors.affiliation: Neuromuscular Unit, Dipartimento di Scienze Cardiovascolari e Neurologiche, University of Cagliari, Cagliari, Italy. nikola.carboni@tiscali.it
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.forename: Marco
authors.initials: M
authors.lastname: Mura
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ahmad
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Solla
authors.forename: Anna
authors.initials: A
authors.lastname: Mateddu
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Maioli
authors.forename: Stefano
authors.initials: S
authors.lastname: Marini
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nissardi
authors.forename: Jessica
authors.initials: J
authors.lastname: Frau
authors.forename: Giorgio
authors.initials: G
authors.lastname: Mallarini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Mercuro
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004452:Echocardiography / Q000379:methods; D004562:Electrocardiography / Q000379:methods; D005192:Family Health; D005260:Female; D006331:Heart Diseases / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications / Q000235:genetics; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D010641:Phenotype
chemical_list: D034904:Lamin Type A; D003402:Creatine Kinase