Yıl: 2022 Cilt: 50 Sayı: 7 Sayfa Aralığı: 531 - 534 Metin Dili: İngilizce DOI: 10.5543/tkda.2022.21286 İndeks Tarihi: 01-11-2022

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

Öz:
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 cardiomyopathy. 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.
Anahtar Kelime:

Çocuklarda Ailesel Dilate Kardiyomiyopatinin ve Sol Ventrikül Disfonksiyonunun Nadir Bir Nedeni; Emery-Dreifuss Tip 2: Olgu Sunumu

Öz:
Emery-Dreifuss müsküler distrofisi, nükleer proteinleri (emerin, lamin A/C, nesprin) kodlayan genlerdeki eksiklikten kaynaklanan bir grup müsküler distrofiden biridir. Eklem kontraktürleri, müsküler distrofi ve kalp tutulumu ile ilerler. Kardiyak bulguları; dilate kardiyomiyopati, iletim kusurları ve artmış ani kardiyak ölüm riskini içerir. Burada Lamin A/C gen mutasyonu ve dilate kardiyomiyopatisi olan 16 yaşında genç bir erkek olgu sunulmaktadır. Hastanın öyküsünden babası ve ablasında da dilate kardiyomiyopati olduğu ve her ikisinin de kalp yetersizliğinden kaybedildiği öğrenildi. Hastanın takibinde ilerleyici sol ventrikül disfonksiyonu ve sol ventrikül dissenkronisi olması nedeniyle kardiyak resenkronizasyon tedavisi implantasyonu planlandı. Ancak aile bu tedavi seçeneğini kabul etmedi. Hasta kalp nakli listesine alındı. Uygun bir donör beklerken yoğun bakım ünitesinde tedavi altındayken ani kardiyak arrest gelişmesi sonucu kaybedildi.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA Duras E, Sulu A, Kafali H, Ergul Y (2022). A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. , 531 - 534. 10.5543/tkda.2022.21286
Chicago Duras Ensar,Sulu Ayse,Kafali Hasan Candas,Ergul Yakup A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. (2022): 531 - 534. 10.5543/tkda.2022.21286
MLA Duras Ensar,Sulu Ayse,Kafali Hasan Candas,Ergul Yakup A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. , 2022, ss.531 - 534. 10.5543/tkda.2022.21286
AMA Duras E,Sulu A,Kafali H,Ergul Y A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. . 2022; 531 - 534. 10.5543/tkda.2022.21286
Vancouver Duras E,Sulu A,Kafali H,Ergul Y A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. . 2022; 531 - 534. 10.5543/tkda.2022.21286
IEEE Duras E,Sulu A,Kafali H,Ergul Y "A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report." , ss.531 - 534, 2022. 10.5543/tkda.2022.21286
ISNAD Duras, Ensar vd. "A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report". (2022), 531-534. https://doi.org/10.5543/tkda.2022.21286
APA Duras E, Sulu A, Kafali H, Ergul Y (2022). A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Türk Kardiyoloji Derneği Arşivi, 50(7), 531 - 534. 10.5543/tkda.2022.21286
Chicago Duras Ensar,Sulu Ayse,Kafali Hasan Candas,Ergul Yakup A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Türk Kardiyoloji Derneği Arşivi 50, no.7 (2022): 531 - 534. 10.5543/tkda.2022.21286
MLA Duras Ensar,Sulu Ayse,Kafali Hasan Candas,Ergul Yakup A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Türk Kardiyoloji Derneği Arşivi, vol.50, no.7, 2022, ss.531 - 534. 10.5543/tkda.2022.21286
AMA Duras E,Sulu A,Kafali H,Ergul Y A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Türk Kardiyoloji Derneği Arşivi. 2022; 50(7): 531 - 534. 10.5543/tkda.2022.21286
Vancouver Duras E,Sulu A,Kafali H,Ergul Y A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report. Türk Kardiyoloji Derneği Arşivi. 2022; 50(7): 531 - 534. 10.5543/tkda.2022.21286
IEEE Duras E,Sulu A,Kafali H,Ergul Y "A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report." Türk Kardiyoloji Derneği Arşivi, 50, ss.531 - 534, 2022. 10.5543/tkda.2022.21286
ISNAD Duras, Ensar vd. "A Rare Cause of Left Ventricular Dysfunction and Familial Dilated Cardiomyopathy in Children; Emery–Dreifuss Type 2: A Case Report". Türk Kardiyoloji Derneği Arşivi 50/7 (2022), 531-534. https://doi.org/10.5543/tkda.2022.21286