Management of heart failure with concomitant complete atrioventricular block caused by a novel missense LMNA mutation


Hayiroglu M. İ., Sekerci S. S., Cinier G., Dereli S., Tekkesin A. I.

JOURNAL OF ELECTROCARDIOLOGY, cilt.69, ss.27-29, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 69
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.jelectrocard.2021.09.004
  • Dergi Adı: JOURNAL OF ELECTROCARDIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.27-29
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

A 30-year-old lady was admitted to the hospital with progressive exertional dyspnoea and bradycardia. A complete atrioventricular block was diagnosed using 12-lead electrocardiography and a transthoracic echocardiography revealed a severely impaired left ventricular systolic dysfunction with an ejection fraction of 20%. Following hospitalization, her coronary angiography was normal, so a whole exome sequencing was conducted. The novel Lamin A/C Gene missense mutation c.263C > A,p.Ala88Asp in exon 3 was identified. A CRT-D was implanted due to the high risk of life-threatening ventricular arrhythmias and low potential for left ventricular reverse remodelling. The patient is undergoing follow-ups at the outpatient clinic, showing a 25% improvement in left ventricular ejection fraction during the last visit. (c) 2021 Elsevier Inc. All rights reserved.