Thursday, June 16, 2016

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

R. Brian Sommerville, Margherita Guzzi Vincenti, Kathleen Winborn, Anne Casey, Nathan O. Stitziel, Anne M. Connolly, Douglas L. Mann, Trends in Cardiovascular Medicine, Available online 14 June 2016, ISSN 1050-1738, Doi:10.1016/j.tcm.2016.06.005.

We advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.
Friedreich Ataxia: Although progressive debilitating ataxia is the most prominent clinical finding in FRDA and generally precedes the onset of cardiac symptoms, heart failure and arrhythmias account for at least 60% of the mortality in FRDA. Importantly, in patients with advanced neurological disease, a subclinical hypertrophic cardiomyopathy may be present despite the absence of overt cardiac symptoms.