Cardiac manifestations in Emery–Dreifuss muscular dystrophy

Abstract

A 35-year-old man with a known history of Emery-Dreifuss muscular dystrophy called emergency medical services (EMS) while at work one morning, reporting palpitations, lightheadedness, fatigue and a rapid heart rate. On arrival by EMS, his pulse was documented at 195-200 beats/min, and his rhythm strips showed ventricular tachycardia ( Figure 1A). He underwent cardioversion and was given a bolus of amiodarone, 150 mg intravenously. In the emergency department and during admission, his symptoms persisted with rhythm strips showing recurrent episodes of sustained ventricular tachycardia (Figure 1B). He was subsequently started on an amiodarone drip and oral metoprolol. Echocardiography performed during admission showed dilated cardiomyopathy with severe systolic dysfunction and an estimated ejection fraction of 23%. Cardiac catheterization was performed to rule out an ischemic cause of the cardiomyopathy and showed normal coronary arteries. The patient received an implantable cardioverter-defibrillator and was discharged with prescriptions for an oral β-blocker and amiodarone. As an out patient, his amiodarone is slowly being weaned because he has had no recurrent episodes of ventricular tachycardia.With respect to the patient's diagnosis of Emery-Dreifuss muscular dystrophy, he first saw a neurologist at age 14 years after multiple operations to lengthen his Achilles tendon owing to persistent "toe walking," which is characteristic of the disease. He was subsequently referred to a muscular dystrophy specialist at age 15, when the diagnosis of Emery-Dreifuss muscular dystrophy was confirmed. Aside from the contractures of his Achilles tendons, he also has substantial difficulty with neck flexion secondary to contractures in his neck extensors. The patient lives in a community with limited access to specialist care and has therefore not followed up with a muscular dystrophy specialist since age 15, because it would require substantial travel to a larger tertiary care centre. The patient's first echocardiogram at age 15 showed a dilated cardiomyopathy with an ejection fraction of 45%-50%. He was subsequently started on an angiotensinconverting enzyme (ACE) inhibitor by a cardiologist. He elected not to start a β-blocker because of potential adverse effects, including fatigue. Subsequently, he had a total of 4 follow-up appointments over the next 20 years with his cardiologist, where he remained completely asymptomatic from a cardiac perspective. He underwent serial echocardiography tests, which ultimately showed progression of his cardiomyopathy. His next echocardiogram almost 10 years later showed a dilated left ventricle with mild global systolic dysfunction (ejection fraction of 45%), which progressed to moderate left ventricular systolic dysfunction (ejection fraction of 35%-40%) over the PRACTICE | CASES

Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

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X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

“…The phenotype is characterized by triad joint contractures (elbows, Achilles tendons, and posterior cervical muscles), humeroperoneal muscle weakness, and cardiac involvement as conduction disturbances [6,7,8,9,10,11,12]. Although female carriers of EDMD1 are usually asymptomatic, they can sometimes present clinical symptoms such as cardiac arrhythmias, including atrial fibrillation or atrioventricular (AV) block [3,13,14,15,16,17,18]. These can lead to sudden cardiac death [19,20].…”

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