Cardiac involvement in proximal myotonic myopathy
- aDepartment of Cardiology, Georg-August-University, Göttingen, Germany, bDepartment of Nephrology and Rheumatology, Georg-August-University, cDepartment of Pathology, Municipal Hospital, Darmstadt, Germany, dDepartment of Neuropathology, Georg-August-University, eDepartment of Clinical Neurophysiology, Georg-August-University
- Dr C D Reimers, Abteilung für klinische Neurophysiologie, Georg-August-Universität, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany. email:cd.reimers{at}med.uni-goettingen.de
- Accepted 19 February 1998
Abstract
Proximal myotonic myopathy (PROMM) is a recently described autosomal dominantly inherited disorder resulting in proximal muscle weakness, myotonia, and cataracts. A few patients with cardiac involvement (sinus bradycardia, supraventricular bigeminy, conduction abnormalities) have been reported. The cases of three relatives with PROMM (weakness of neck flexors and proximal extremity muscles, calf hypertrophy, myotonia, cataracts) are reported: a 54 year old man, his 73 year old mother, and 66 year old aunt. All three presented with conduction abnormalities and one had repeated, life threatening, sustained monomorphic ventricular tachycardia. This illustrates that severe cardiac involvement may occur in PROMM.
