0460: Right heart involvement in patients with laminopathies

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Laminopathies are rare genetic diseases, with various clinical manifestations. Cardiac involvement may include conduction system disease, supraventricular and ventricular arrhythmias, and dilated cardiomyopathy. In other cardiac diseases, right ventricular dysfunction has been associated with an impaired prognosis. To study the prevalence of right ventricular involvement in laminopathies and its influence on patient outcome. We retrospectively included 138 patients (age=37 [25-49], female=58%) with LMNA gene mutations. At baseline, conduction system disease was present in 36% of patients, supraventricular arrhythmias in 25%, non-sustained and sustained ventricular tachyarrhythmias (VT) in 7 and 6%, left ventricular dysfunction in 42%. The association of right ventricular systolic dysfunction and clinical signs of right heart failure was observed in 18 patients (13%) including 9 who presented with isolated right ventricular without left ventricular systolic dysfunction. Over a 13.5 median follow-up duration, 47 patients (34%) developed major cardiac adverse events, including 23 with end-stage heart failure, 28 with sustained VT, and 26 with 2 nd degree Mobitz II or 3 rd degree AV blocks. Right ventricular involvement was significantly associated with truncating mutations (44% vs. 22%, p=0.04), higher global mortality (44% vs. 17%, p<0.001), end-stage heart failure (56% vs. 11%, p<0.001), sustained ventricular tachycardia (56% vs. 17%, p<0.001), supraventricular tachyarrhythmias (94% vs. 49%, p<0.001), and sinus node dysfunction (33% vs. 7%, p<0.001). Patients with laminopathies are at risk for right ventricular dysfunction, which may be present without any left ventricular systolic dys-function and frequently leads to end-stage heart failure.