ISSN 1016-5169 | E-ISSN 1308-4488
Archives of the Turkish Society of Cardiology
A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. 2022; 50(7): 531-534 | DOI: 10.5543/tkda.2022.21286

A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report

Ensar Duras, Ayşe Sülü, Hasan Candaş Kafalı, Yakup Ergül
Department of Pediatric Cardiology, University of Health Sciences, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center, İstanbul, Turkey

Emery–Dreifuss muscular dystrophy is one of a group of muscular dystrophies caused by a deficiency in genes encoding nuclear proteins (emerin, lamin A/C, nesprin). It progresses with joint contractures, muscular dystrophy, and cardiac involvement. Cardiac findings include dilated cardiomyopathy, conduction defects, and an associated increased risk of sudden cardiac death. We report the case of a young boy, aged 16, with lamin A/C gene mutation and dilated cardio-myopathy. From the patient’s history, it was learned that his father and sister also had dilated cardiomyopathy and both died of heart failure. Cardiac resynchronization therapy implantation was planned in the follow-up of the patient due to progressive left ventricular dysfunction and left ventricular dyssynchrony. But the family did not accept this treatment option. The patient was placed on the heart transplant list. While waiting for a suitable donor, he died as a result of sudden cardiac arrest while he was being treated in the intensive care unit.

Keywords: Cardiomyopathy, dyssynchrony, Emery–Dreifuss muscular dystrophy, genetics

How to cite this article
Ensar Duras, Ayşe Sülü, Hasan Candaş Kafalı, Yakup Ergül. A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Turk Kardiyol Dern Ars. 2022; 50(7): 531-534

Corresponding Author: Ensar Duras
Manuscript Language: English


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