Non-sustained ventricular tachycardias, conduction disorders and an impaired left ventricular ejection fraction in a 32-year-old woman

A 32-year-old woman was referred for cardiological evaluation due to palpitations. She did not have a history of syncope. Her family history was negative for sudden death. Electrocardiography showed a sinus rhythm with a first-degree atrioventricular (AV) block (PR interval 310 ms) and premature ventricular contractions (Fig. 1a). A monomorphic non-sustained ventricular tachycardia was seen on Holter recording. Cardiac MRI showed an impaired left ventricular ejection fraction (LVEF) of 41% with mid-myocardial late enhancement consistent with cardiomyopathy (Fig. 1b). DNA analysis revealed a previously reported pathogenic mutation, c.1130G>A p.(Arg377His) in the LMNA gene. The cardiac phenotype associated with mutations in the LMNA gene typically includes early-onset AV conduction disorders, tachyarrhythmias, dilated cardiomyopathy, in some cases associated with skeletal myopathy [1, 2]. The presence of non-sustained ventricular tachycardias, LVEF <45% at first evaluation, male sex and non-missense mutations (e.g. ins-del/truncating or mutations affecting splicing) are associated with an increased risk of malignant ventricular arrhythmias in LMNA mutation carriers [3].