Pregnancy in women with genetic variants of dilated cardiomyopathy

Abstract

Introducción y objetivos: Hay pocos datos sobre la seguridad del embarazo en pacientes con miocardiopatía dilatada (MCD) de origen genético y en portadoras de variantes genéticas asociadas con MCD sin fenotipo. Se evaluaron los desenlaces cardiacos, obstétricos y fetales o neonatales en este grupo de pacientes. Métodos: Se incluyó a 48 mujeres portadoras de variantes genéticas asociadas con MCD (30 con MCD establecida y 18 sin fenotipo), que tuvieron 83 embarazos. Los episodios adversos cardiacos (EAC) se definieron como insuficiencia cardiaca (IC), taquicardia ventricular sostenida, implante de dispositivo de asistencia ventricular, trasplante de corazón o muerte cardiaca materna ocurridos durante el embarazo, el parto y hasta el sexto mes posparto. Resultados: Un total de 15 pacientes, todas con MCD (el 31% de la cohorte total y el 50% de las mujeres con MCD) sufrieron EAC. Se reportaron complicaciones obstétricas y fetales o neonatales en el 14% de los embarazos (10 en MCD y 2 en portadoras). Se evaluó a 30 mujeres antes de su primer embarazo (12 con MCD establecida y 18 sin fenotipo); 5 mujeres (42%) con MCD sufrieron EAC pese a estar en clase funcional NYHA I-II previamente. El 80% tenía antecedentes de episodios cardiacos antes de su primera gestación. De las 18 mujeres sin fenotipo, 3 (17%) contrajeron MCD hacia el final del embarazo. Conclusiones: Los EAC durante el embarazo, el parto y el posparto son habituales en pacientes con MCD de origen genético, principalmente la IC. A pesar de la aparentemente buena tolerancia a la gestación de las portadoras, el embarazo podría actuar como desencadenante de la aparición de MCD en un subgrupo de mujeres.

Introduction and objectives: Limited information is available on the safety of pregnancy in patients with genetic dilated cardiomyopathy (DCM) and in carriers of DCM-causing genetic variants without the DCM phenotype. We assessed cardiac, obstetric, and fetal or neonatal outcomes in this group of patients. Methods: We studied 48 women carrying pathogenic or likely pathogenic DCM-associated variants (30 with DCM and 18 without DCM) who had 83 pregnancies. Adverse cardiac events were defined as heart failure (HF), sustained ventricular tachycardia, ventricular assist device implantation, heart transplant, and/or maternal cardiac death during pregnancy, or labor and delivery, and up to the sixth postpartum month. Results: A total of 15 patients, all with DCM (31% of the total cohort and 50% of women with DCM) experienced adverse cardiac events. Obstetric and fetal or neonatal complications were observed in 14% of pregnancies (10 in DCM patients and 2 in genetic carriers). We analyzed the 30 women who had been evaluated before their first pregnancy (12 with overt DCM and 18 without the phenotype). Five of the 12 (42%) women with DCM had adverse cardiac events despite showing NYHA class I or II before pregnancy. Most of these women had a history of cardiac events before pregnancy (80%). Among the 18 women without phenotype, 3 (17%) developed DCM toward the end of pregnancy. Conclusions: Cardiac complications during pregnancy and postpartum were common in patients with genetic DCM and were primarily related to HF. Despite apparently good tolerance of pregnancy in unaffected genetic carriers, pregnancy may act as a trigger for DCM onset in a subset of these women