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Commented article: Pregnancy in women with dilated cardiomyopathy genetic variants.

Author:

Fernando de Frutos Seminario (Hospital Universitari de Bellvitge, Barcelona, Spain)

Despite substantial progress in the field of cardiomyopathies, evidence regarding the risks and outcomes faced by women with dilated cardiomyopathy who harbour pathogenic variants or at‐risk carriers remains limited. This retrospective multicentre study, conducted across ten predominantly European institutions, seeks to shed some light on the incidence of cardiovascular complications in this specific population.​1​ 

The cohort comprised 48 women harboring DCM-related genetic variants: 30 already diagnosed with dilated cardiomyopathy and 18 asymptomatic carriers. Cardiac adverse events occurred in 15 women (31%) during pregnancy, while obstetric complications arose in 7% of pregnancies, mainly among those with a pre-existing DCM diagnosis. 

Extracted from Pregnancy in women with dilated cardiomyopathy genetic variants. Restrepo-Córdoba et al. 2025

 

 

 

A specific sub analysis on women who had an evaluation prior to first pregnancy provided more accurate information regarding 18 healthy carriers identified through family screening with a median age at first delivery of 29 years and a median LVEF of 58%. Among this subgroup, 3 women (17%) developed DCM during pregnancy all during the final weeks of pregnancy and requiring a cesarean section for delivery. 

Despite the inherent limitations of a retrospective study, this work offers valuable insights into a clearly understudied topic. It is worth emphasizing that, even with the participation of ten high-volume centers, the sample size remained relatively small, underscoring the need to establish collaborative networks among European centers to enhance the characterization and follow-up of these patients. Prospective data with a common protocol regarding surveillance and treatment withdrawal might be also of great interest for generating higher-quality evidence. 

From a genomics-focused perspective, it would be valuable to examine the incidence of DCM and obstetric complications in apparently healthy carriers who are identified incidentally during genomic screening for unrelated conditions, given that the overall penetrance appears markedly lower in this context than among relatives evaluated due to a family history of DCM. ​2​ 

Both the 2023 ESC Guidelines for cardiomyopathies and 2025 ESC Guidelines for cardiovascular disease and pregnancy recommend that women with DCM and healthy carriers should receive pre-pregnancy counselling from a dedicated multidisciplinary Pregnancy Heart Team.​3,4​ 

Risk stratification should employ the modified WHO 2.0 classification and should be complemented by a discussion of heritable transmission and strategies to mitigate the transgenerational risk. Baseline evaluation must include, at minimum, a resting ECG, transthoracic echocardiography, and an exercise stress test. ​4​ Follow-up of at-risk carriers of DCM-related genetic variants was not specifically addressed by the newly released 2025 ESC Guidelines for cardiovascular disease and pregnancy. ​3​ 

Modified WHO 2.0 classification of maternal cardiovascular risk in cardiomyopathies. Extracted and modified from 2025 ESC Guidelines for the management of cardiovascular disease in pregnancy. De Backer et al. 2025

 

References


1. Restrepo-Córdoba MA, Chmielewski P, Truszkowska G, et al. Pregnancy in women with dilated cardiomyopathy genetic variants. Revista Española de Cardiología (English Edition). 2025;78(1):2-9. doi:10.1016/j.rec.2024.04.002

2. Shah RA, Asatryan B, Sharaf Dabbagh G, et al. Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy–Associated Putative Pathogenic Gene Variants in UK Biobank Participants. Circulation. 2022;146(2):110-124. doi:10.1161/CIRCULATIONAHA.121.058143

3. De Backer J, Haugaa KH, Hasselberg NE, et al. 2025 ESC Guidelines for the management of cardiovascular disease and pregnancy. Eur Heart J. Published online August 29, 2025. doi:10.1093/eurheartj/ehaf193

4. Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44(37):3503-3626. doi:10.1093/eurheartj/ehad194

The content of this article reflects the personal opinion of the author/s and is not necessarily the official position of the European Society of Cardiology.