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

Abstract

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.