Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy

Nicola Carboni, Nicoletta Carboni, Marco Mura, Eugenio Maria Mercuri, Giovanni Marrosu, Rosa C. Manzi, Eleonora Cocco, Vincenzo Nissardi, Franco Isola, Anna Mateddu, Elisabeta Solla, Maria A. Maioli, Valentina Oppo, Rachele Piras, Stefano Marini, Carlo Lai, Luisa Politano, Maria G. Marrosu

Risultato della ricerca: Contributo in rivistaArticolo in rivista

16 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)152-158
Numero di pagine7
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2012


  • Adolescent
  • Adult
  • Female
  • Follow-Up Studies
  • Heart
  • Humans
  • Longitudinal Studies
  • Male
  • Muscle, Skeletal
  • Muscular Dystrophy, Emery-Dreifuss
  • Mutation
  • Pedigree
  • Young Adult


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