Pediatr. praxi. 2011;12(5):336-338

Ventricular fibrillation as an initial clinical manifestation of myotonic dystrophy

MUDr.Marie Ryzí¹, MUDr.Pavel Vít¹, MUDr.Miroslava Burešová¹, MUDr.Michal Ryzí²

¹ Pediatrická klinika LF MU a FN Brno

² Klinika dětské neurologie LF MU a FN Brno

Myotonic dystrophy type 1 (MD1) is an autosomal dominant disease affecting both striated and smooth muscle. Clinical symptomatology

of the disease includes not only muscular manifestations but also other symptoms resulting, in particular, from the involvement of the

heart, eyes, central nervous system or some endocrine glands.

A case report is presented of a boy who was diagnosed with asymptomatic MD1 at the age of ten years old. In the subsequent period,

he had not been under neurological observation and had never undergone cardiological evaluation. At the age of 17, he had collapsed

during sports and was found to have severe ventricular fibrillation. Subsequently, the boy underwent a comprehensive evaluation and

had an implantable cardioverter-defibrillator inserted as a prevention of further possible dysrhythmia. The paper aims to point out that

muscular diseases may involve some other, not uncommonly neglected accompanying symptoms.

Keywords: myotonic dystrophy type I, ventricular fibrillation, implantable cardioverter-defibrillator

Published: November 1, 2011  Show citation