Prophylactic Implantable Cardioverter Defibrillator Placement in a Sporadic Desmin Related Myopathy and Cardiomyopathy

Abstract

Desminopathy is a neuromuscular disorder associated with the accumulation of the protein desmin. This article reports a case of a man with a mutation in the desmin gene suffering from cardiomyopathy and skeletal myopathy. This patient underwent implantable cardioverter defibrillator (ICD) implantation for prognostic considerations and subsequently developed a sustained ventricular tachycardia (SVT). While nonsustained VTs (NSVT) have previously been reported, this is the first time that a SVT could be seen in a patient with this disease.

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene

“…These patients presented in early adulthood with progressive distal and proximal myopathy associated with restrictive or hypertrophic cardiomyopathy and conduction blocks. Although dilated cardiomyopathy has been considered the most common form of heart involvement in patients with desmin mutations [10][11][12], recent studies, including the present observations have demonstrated the presence of restrictive cardiomyopathy in several desminopathy patients [13][14][15][16]. The occurrence of restrictive cardiomyopathy does not seem to be mutation-specific since it has been found associated with mutations along the desmin molecule.…”

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

“…Subsequent investigations and reviews upheld the notion that DCM was the major phenotype of desmin myopathy [2][3][4][5][6]. RCM has occasionally been reported in patients with desmin mutations [7][8][9][10], but no detailed cardiovascular studies have been performed.…”

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

“…Heart disease is seen in more than 60% of patients in the advanced stages of illness (69). Some patients develop tachyarrhythmia requiring implantation of a cardioverter defibrillator (82). The age of disease onset in cases presenting with cardiomyopathy tends to be earlier and the illness more severe.…”