Refractory Right Ventricular Failure in a Patient with Emery-Dreifuss Muscular Dystrophy

Abstract

A 23-year-old man had progressive muscle weakness and Emery-Dreifuss muscular dystrophy (EDMD) due to a LMNA (lamin A/C) mutation. Congestive heart failure diagnosed at 19 years of age. Maximal drug treatment/cardiac resynchronization failed to improve the cardiac function. He was therefore hospitalized due to heart failure. Despite extracorporeal membrane oxygenation, he developed severe right heart dysfunction and died (multiple organ failure). A cardiac lesion's presence determines the prognosis of EDMD. While there are many arrhythmia reports, few reports on heart failure (particularly severe heart failure requiring cardiac transplantation) have been published. Right heart function monitoring and early ventricular-assist device use plus right heart support considering heart transplantation are important.

Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

“…However, it should be noted that patients with EDMD1 may also develop dilated cardiomyopathy in the course of the disease. [6][7][8][9][10] Boriani G et al reported that left ventricular dilation/ hypokinesia was observed in two of the five patients with EDMD1 at the age of 50 years or older. 6 In a study by Bialer et al, 7 all seven affected male patients with EDMD1 at the age of 35 years or older had cardiac conduction abnormalities requiring pacemakers, and two of them developed cardiomyopathy thereafter.…”

“…In the case of refractory VT/VF, only a LVAD and heart transplantation can prevent sudden cardiac death. [8][9][10] In Japan, waiting period for heart transplantation is usually long because of the shortage of donors, but LVAD can be implanted as bridge to heart transplantation. Thus, considering heart transplantation is necessary when heart failure is progressive and/or refractory VT/VF appears.…”

Nova mutação no gene EMD em uma família brasileira com diagnóstico de distrofia muscular de Emery-Dreifuss: Dois relatos de caso e revisão da literatura

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