Abstract 4122486: Multicenter Study of Primary Fetal Cardiomyopathy: Clinical Outcomes And Genetic Etiologies, A Fetal Heart Society Research Collaborative Study

Background: Fetal cardiomyopathy (FCM) affects 8 per 100,000 live births, often with unknown etiology. Progress in fetal cardiac screening, genetic testing and management may have impacted historically poor outcomes. Aims: We sought to investigate genetic associations and clinical outcomes of FCM in the current era. Methods: This was a retrospective Fetal Heart Society Research Collaborative cohort study of FCM cases diagnosed from January 2017-December 2021 in 39 centers. Cases of fetal myocardial disease attributable to maternal diabetes, structural heart disease, arrhythmia or extra-cardiac conditions were excluded. Data including outcomes to 1 year after birth were collected. Significance of genetic testing results and FCM subtype were classified by each center. Results: There were 138 FCM cases diagnosed at a median gestational age of 27 +4 weeks (range 13-39 weeks). Suspected fetal heart disease (41%, 56/138) was the most common referral indication. There was a known family history of CM in 19% (26/138). FCM phenotypes included 38% (52/138) dilated, 24% (33/138) hypertrophic, 17% (24/138) non-compacted, 10% (14/138) mixed, 5% (7/138) restrictive, 3% (4/138) ventricular aneurysm, 3% (4/138) unspecified. Hydrops was present at diagnosis in 15% (20/138) and by delivery or at fetal demise in 26% (36/138). Of 128 continued pregnancies, 7% (9/128) had a fetal demise, 92% (118/128) a live birth and one was lost to follow-up. Among live births, 10% (12/118) received only palliative care. Of 106 actively treated, 75% (80/106) survived to 1 year; 7% (7/106) required ECMO, and 22% (23/106) were listed for transplant with 18 of these successfully transplanted. Of the cohort, a total of 80% (110/138) had genetic testing (including 30 with invasive prenatal testing), with 38% (52/138) having a confirmed genetic etiology and 28% (38/138) with a variant of uncertain significance (VUS) (Figure 1). Transplant-free survival to 1 year was similar for those with and without a genetic diagnosis (40%,21/52 vs 47%,40/86, p=0.48). Conclusion: Outcomes remain poor in FCM, with <50% 1-year survival overall. Confirmed genetic etiologies are now identified in nearly 40%, highlighting the importance of genetic testing.

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Journal
Circulation
Published
2024-11-12
DOI
https://doi.org/10.1161/circ.150.suppl_1.4122486
Primary Topic
Cardiomyopathy and Myosin Studies
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article
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article

Abstract 4122486: Multicenter Study of Primary Fetal Cardiomyopathy: Clinical Outcomes And Genetic Etiologies, A Fetal Heart Society Research Collaborative Study

J Doucet, Jennifer Sutton, Oana Caluseriu, David Schidlow et al.
Circulation
Cardiomyopathy and Myosin Studies
article

Abstract 4122486: Multicenter Study of Primary Fetal Cardiomyopathy: Clinical Outcomes And Genetic Etiologies, A Fetal Heart Society Research Collaborative Study

J Doucet, Jennifer Sutton, Oana Caluseriu, David Schidlow, Sheetal Patel, Marlayna Despres, Neda Mulla, Deani H. McVadon, Kristin Schneider, Tam Doan, Elena Kwon, Sue Chandra, James Cnota, Sam Keller, Shabnam Peyvandi, Ranjini Srinivasan, Whitnee Hogan, Sara Creighton, Bettina F. Cuneo, Angela McBrien, Jennifer Conway, Amanda McIntosh, Erik Michelfelder, Amna Qasim, Hari Rajagopal, Michelle Grenier, Amara Majeed, Anita J. Moon‐Grady, Lisa K. Hornberger, Michelle S. Miller, Cathleen Pruitt, Michelle Kaplinski, Caitlin Milligan, Carolyn L. Taylor, Steven E. Lipshultz, Gitanjali Mansukhani, Ann Kavanaugh‐McHugh, Seema Mital, Elijah H. Bolin, Tíscar Cavallé-Garrido, Adriana Montes Gil, Sanghee Suh Ro, Astha Burande, Mahima K Bijji
article en

Abstract

Background: Fetal cardiomyopathy (FCM) affects 8 per 100,000 live births, often with unknown etiology. Progress in fetal cardiac screening, genetic testing and management may have impacted historically poor outcomes. Aims: We sought to investigate genetic associations and clinical outcomes of FCM in the current era. Methods: This was a retrospective Fetal Heart Society Research Collaborative cohort study of FCM cases diagnosed from January 2017-December 2021 in 39 centers. Cases of fetal myocardial disease attributable to maternal diabetes, structural heart disease, arrhythmia or extra-cardiac conditions were excluded. Data including outcomes to 1 year after birth were collected. Significance of genetic testing results and FCM subtype were classified by each center. Results: There were 138 FCM cases diagnosed at a median gestational age of 27 +4 weeks (range 13-39 weeks). Suspected fetal heart disease (41%, 56/138) was the most common referral indication. There was a known family history of CM in 19% (26/138). FCM phenotypes included 38% (52/138) dilated, 24% (33/138) hypertrophic, 17% (24/138) non-compacted, 10% (14/138) mixed, 5% (7/138) restrictive, 3% (4/138) ventricular aneurysm, 3% (4/138) unspecified. Hydrops was present at diagnosis in 15% (20/138) and by delivery or at fetal demise in 26% (36/138). Of 128 continued pregnancies, 7% (9/128) had a fetal demise, 92% (118/128) a live birth and one was lost to follow-up. Among live births, 10% (12/118) received only palliative care. Of 106 actively treated, 75% (80/106) survived to 1 year; 7% (7/106) required ECMO, and 22% (23/106) were listed for transplant with 18 of these successfully transplanted. Of the cohort, a total of 80% (110/138) had genetic testing (including 30 with invasive prenatal testing), with 38% (52/138) having a confirmed genetic etiology and 28% (38/138) with a variant of uncertain significance (VUS) (Figure 1). Transplant-free survival to 1 year was similar for those with and without a genetic diagnosis (40%,21/52 vs 47%,40/86, p=0.48). Conclusion: Outcomes remain poor in FCM, with <50% 1-year survival overall. Confirmed genetic etiologies are now identified in nearly 40%, highlighting the importance of genetic testing.

CirculationVol. 150(Suppl_1)
Western University (CA), Cincinnati Children's Hospital Medical Center (US), Boston Children's Hospital (US), Lurie Children's Hospital (US), Morgan Stanley Children's Hospital (US), Monroe Carell Jr. Children's Hospital (US), Arkansas Children's Hospital (US), Johns Hopkins University (US), Emory University (US), Medical University of South Carolina (US), University of Alberta (CA), University of California, San Francisco (US), University of Washington (US), Medical College of Wisconsin (US), University of Utah (US), Columbia University Irving Medical Center (US), Montreal Children's Hospital (CA), London Health Sciences Centre (CA), Hospital for Sick Children (CA), Children's Hospital Colorado (US), Johns Hopkins All Children's Hospital (US), Cohen Children's Medical Center (US), Phoenix Children's Hospital (US), UCSF Benioff Children's Hospital (US), Children's Hospital at Montefiore (US), Stanford Medicine (US), Texas Children's Hospital (US), Jacobs (United States) (US), Boston Children's Museum (US), New York University (US), University of Missouri–Kansas City (US), University of Colorado Denver (US)
Good health and well-being
Openalex Percentile: Top 63%
Cardiomyopathy and Myosin Studies
DOISourceOpenAlex
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