title: Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.
abstract: The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery-Dreifuss muscular dystrophy with mutation in the STA gene. A detailed longitudinal cardiological evaluation and muscle imaging studies allowed for the assessment of intrafamilial variability of cardiac and muscle involvement. Long term cardiological follow up in the 5 affected males and in 7 female carriers revealed different degrees of severity, ranging from tachycardia-bradycardia syndrome and variable biatrial and left ventricle dilatation, to an episode of isolated symptomatic sustained ventricular tachycardia requiring a device implantation. Muscle imaging in the affected males showed involvement of the soleus and medial head of gastrocnemius on leg muscles and variable involvement on thigh muscles that have not been previously reported. In some cases, imaging showed clear signs of muscle involvement even when no overt signs of weakness could be detected during clinical examination.
authors: Neuromuscular Unit, Department of Cardiological and Neurological Sciences, University of Cagliari, Sardinia, Italy. nikola.carboni@tiscali.it
authors: Nicola
authors: N
authors: Carboni
authors: Marco
authors: M
authors: Mura
authors: Eugenio
authors: E
authors: Mercuri
authors: Giovanni
authors: G
authors: Marrosu
authors: Rosa C
authors: RC
authors: Manzi
authors: Eleonora
authors: E
authors: Cocco
authors: Vincenzo
authors: V
authors: Nissardi
authors: Franco
authors: F
authors: Isola
authors: Anna
authors: A
authors: Mateddu
authors: Elisabeta
authors: E
authors: Solla
authors: Maria A
authors: MA
authors: Maioli
authors: Valentina
authors: V
authors: Oppo
authors: Rachele
authors: R
authors: Piras
authors: Stefano
authors: S
authors: Marini
authors: Carlo
authors: C
authors: Lai
authors: Luisa
authors: L
authors: Politano
authors: Maria G
authors: MG
authors: Marrosu
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D055815:Young Adult