Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report
1 Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
2 Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
3 Department of Pathology, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Journal of Medical Case Reports 2009, 3:8625 doi:10.4076/1752-1947-3-8625Published: 24 July 2009
Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults.
We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis.
This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.