Pregnancy-Associated Cardiomyopathy and Long-Term Cardiac Phenotype in Women With Truncating Titin Variants
4 affiliations
- 1ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Rikshospitalet, Oslo, Norway
- 2Division of Medicine, Department of Cardiology, Hospital in Bærum, Vestre Viken, Gjettum, Norway
- 3University of Oslo, Oslo, Norway
- 4Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
Abstract
Background: Peripartum cardiomyopathy (PPCM) occurs in 0.02% to 0.1% of live births in European countries. Truncating variants in the Titin gene (TTNtv) are the most common genetic findings in women with PPCM. However, data on pregnancy-associated cardiomyopathy (PAC) and pregnancy tolerance among TTNtv-positive women are limited.
Objectives: The objectives of the study were to report maternal cardiac outcomes during pregnancy and postpartum and fetal outcomes in women with TTNtv and to explore the effect of parity on long-term cardiac phenotype.
Methods: We conducted an ambispective cohort study including consecutive TTNtv genotype-positive women, regardless of phenotype, with ≥1 cardiological evaluation. Data on pregnancies and maternal and fetal outcomes were collected from questionnaires and medical records. Arrhythmic burden and device implantation were recorded. Left ventricular dimensions and function were assessed by echocardiography.
Results: A total of 107 TTNtv-positive women were included (age 43 [IQR: 32-55] years, 17% probands). Among 78 women with prior pregnancies, 206 pregnancies resulted in 167 (81%) live births. PAC occurred in 3 of 167 live births and in 3 of 76 women, corresponding to a cumulative incidence of 1.8% and 3.9%. All affected women recovered completely with medical therapy. Remaining pregnancies were largely uncomplicated, without increased maternal or fetal adverse events. At median of 18 years (IQR: 9-31) after pregnancy, no differences were observed between parous and nulliparous women in arrhythmic burden, cardiac function, or ventricular dimensions.
Conclusions: In this TTNtv-positive cohort, PAC incidence appeared higher than reported PPCM rates in the general European population. However, pregnancy was well tolerated and was not associated with adverse long-term cardiac remodeling.
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BibTeX
@article{castrini2026pregnancyassociated,
title = {{Pregnancy-Associated Cardiomyopathy and Long-Term Cardiac Phenotype in Women With Truncating Titin Variants}},
author = {Anna Isotta Castrini and Nina Eide Hasselberg and Eivind Westrum Aabel and Cecilie Bugge and Christian Kullmann Five and Knut Erik Berge and Mette Elise Estensen and Kristina Hermann Haugaa},
journal = {JACC: Advances},
year = {2026},
month = jun,
doi = {10.1016/j.jacadv.2026.102857},
url = {https://doi.org/10.1016/j.jacadv.2026.102857},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Pregnancy-Associated Cardiomyopathy and Long-Term Cardiac Phenotype in Women With Truncating Titin Variants
AU - Anna Isotta Castrini
AU - Nina Eide Hasselberg
AU - Eivind Westrum Aabel
AU - Cecilie Bugge
AU - Christian Kullmann Five
AU - Knut Erik Berge
AU - Mette Elise Estensen
AU - Kristina Hermann Haugaa
PY - 2026
DA - 2026/06/24
JO - JACC: Advances
DO - 10.1016/j.jacadv.2026.102857
UR - https://doi.org/10.1016/j.jacadv.2026.102857
AB - Background: Peripartum cardiomyopathy (PPCM) occurs in 0.02% to 0.1% of live births in European countries. Truncating variants in the Titin gene (TTNtv) are the most common genetic findings in women with PPCM. However, data on pregnancy-associated cardiomyopathy (PAC) and pregnancy tolerance among TTNtv-positive women are limited. Objectives: The objectives of the study were to report maternal cardiac outcomes during pregnancy and postpartum and fetal outcomes in women with TTNtv and to explore the effect of parity on long-term cardiac phenotype. Methods: We conducted an ambispective cohort study including consecutive TTNtv genotype-positive women, regardless of phenotype, with ≥1 cardiological evaluation. Data on pregnancies and maternal and fetal outcomes were collected from questionnaires and medical records. Arrhythmic burden and device implantation were recorded. Left ventricular dimensions and function were assessed by echocardiography. Results: A total of 107 TTNtv-positive women were included (age 43 [IQR: 32-55] years, 17% probands). Among 78 women with prior pregnancies, 206 pregnancies resulted in 167 (81%) live births. PAC occurred in 3 of 167 live births and in 3 of 76 women, corresponding to a cumulative incidence of 1.8% and 3.9%. All affected women recovered completely with medical therapy. Remaining pregnancies were largely uncomplicated, without increased maternal or fetal adverse events. At median of 18 years (IQR: 9-31) after pregnancy, no differences were observed between parous and nulliparous women in arrhythmic burden, cardiac function, or ventricular dimensions. Conclusions: In this TTNtv-positive cohort, PAC incidence appeared higher than reported PPCM rates in the general European population. However, pregnancy was well tolerated and was not associated with adverse long-term cardiac remodeling.
SN - 2772-963X
ER -