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Pregnancy in women with dilated cardiomyopathy genetic variants

MA. Restrepo-Córdoba, P. Chmielewski, G. Truszkowska, ML. Peña-Peña, M. Kubánek, A. Krebsová, LR. Lopes, Á. García-Ropero, M. Merlo, A. Paldino, S. Peters, R. Jurcut, R. Barriales-Villa, E. Zorio, M. Hazebroek, J. Mogensen, P. García-Pavía

. 2025 ; 78 (1) : 2-9. [pub] 20240418

Language xxx, English Country Spain

Document type Journal Article

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.

Azienda Sanitaria Universitaria Giuliano Isontina e Università degli Studi di Trieste Trieste Italy

Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares Madrid Spain

Centro Nacional de Investigaciones Cardiovasculares Madrid Spain

Department of Cardiology Aalborg University Hospital Hobrovej r bb Denmark

Department of Cardiology Institute for Clinical and Experimental Medicine Praga Czech Republic

Department of Cardiology Maastricht University Medical Center Maastricht Netherlands

Department of Cardiology Royal Melbourne Hospital Victoria Australia

Department of Medical Biology National Institute of Cardiology Varsovia Poland

Expert Center for Rare Genetic Cardiovascular Diseases Emergency Institute for Cardiovascular Diseases Prof Dr C C Iliescu UMF Carol Davila Bucarest Romania

Guy's and St Thomas' NHS Foundation Trust London United Kingdom

Institute of Cardiovascular Science University College London London United Kingdom

Lewisham and Greenwich NHS Trust London United Kingdom

Servicio de Cardiología Hospital Universitario Puerta de Hierro Instituto de Investigación Sanitaria Puerta de Hierro Segovia de Arana Madrid Spain

Servicio de Cardiología Instituto Cardiovascular Instituto de Investigación Sanitaria del Hospital Clínico San Carlos Hospital Clínico San Carlos Madrid Spain

St Bartholomew's Hospital Barts Heart Centre Barts NHS Trust London United Kingdom

Unidad de Cardiopatías Familiares Muerte Súbita y Mecanismos de Enfermedad Instituto de Investigación Sanitaria La Fe Servicio de Cardiología Hospital La Fe Valencia Spain

Unidad de Cardiopatías Familiares Servicio de Cardiología Complexo Hospitalario Universitario A Coruña Instituto de Investigación Biomédica de A Coruña A Coruña Spain

Unidad de Cardiopatías Familiares Servicio de Cardiología Hospital Universitario y Politécnico La Fe Valencia Spain

Unidad de Imagen y Cardiopatías Familiares Servicio de Cardiología Hospital Universitario Virgen del Rocío Seville Spain

Unit for Screening Studies in Inherited Cardiovascular Diseases National Institute of Cardiology Varsovia Poland

Universidad Francisco de Vitoria Pozuelo de Alarcón Madrid Spain

References provided by Crossref.org

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$a Pregnancy in women with dilated cardiomyopathy genetic variants / $c MA. Restrepo-Córdoba, P. Chmielewski, G. Truszkowska, ML. Peña-Peña, M. Kubánek, A. Krebsová, LR. Lopes, Á. García-Ropero, M. Merlo, A. Paldino, S. Peters, R. Jurcut, R. Barriales-Villa, E. Zorio, M. Hazebroek, J. Mogensen, P. García-Pavía
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$a 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.
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$a Zorio, Esther $u Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Unidad de Cardiopatías Familiares, Muerte Súbita y Mecanismos de Enfermedad (CaFaMuSMe), Instituto de Investigación Sanitaria La Fe, Servicio de Cardiología, Hospital La Fe, Valencia, Spain; Unidad de Cardiopatías Familiares, Servicio de Cardiología, Hospital Universitario y Politécnico La Fe, Valencia, Spain
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