Scientific Sessions 2024  /  Genetics and Outcomes Research  /  Multicenter Study of Primary Fetal Cardiomyopathy: Clinical Outcomes And Genetic Etiologies, A Fetal Heart Society Research Collaborative Study
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American Heart Association

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Final ID: 4122486

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

Abstract Body (Do not enter title and authors here): 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.
  • Burande, Astha  ( University of Alberta , Edmonton , Alberta , Canada )
  • Hornberger, Lisa  ( University of Alberta , Edmonton , Alberta , Canada )
  • Caluseriu, Oana  ( University of Alberta , Edmonton , Alberta , Canada )
  • Peyvandi, Shabnam  ( UCSF Benioff Children’s Hospital , San Francisco , California , United States )
  • Bolin, Elijah  ( Arkansas Children’s Hospital , Little Rock , Arkansas , United States )
  • Cavalle-garrido, Tiscar  ( Montreal Children's Hospital , Montreal , Quebec , Canada )
  • Chandra, Sue  ( University of Alberta , Edmonton , Alberta , Canada )
  • Cnota, James  ( Cincinnati Childrens Hospital Medical Center , Cincinnati , Ohio , United States )
  • Conway, Jennifer  ( University of Alberta , Edmonton , Alberta , Canada )
  • Creighton, Sara  ( Medical College of Wisconsin , Milwaukee , Wisconsin , United States )
  • Cuneo, Bettina  ( Childrens Hospital Colorado , Denver , Colorado , United States )
  • Despres, Marlayna  ( University of Utah , Salt Lake City , Utah , United States )
  • Doan, Tam  ( Texas Childrens Hospital , Houston , Texas , United States )
  • Doucet, J. Scott  ( Texas Childrens Hospital , Houston , Texas , United States )
  • Grenier, Michelle  ( Childrens Hospital Colorado , Denver , Colorado , United States )
  • Hogan, Whitnee  ( University of Utah , Salt Lake City , Utah , United States )
  • Kaplinski, Michelle  ( Stanford Medicine , Palo Alto , California , United States )
  • Bijji, Mahima K  ( University of Western Ontario and London Health Science Centre , London , Ontario , Canada )
  • Kavanaugh-mchugh, Ann  ( The Monroe Carell Jr. Children’s Hospital at Vanderbilt , Nashville , Tennessee , United States )
  • Keller, Sam  ( University of Washington , Seattle , Washington , United States )
  • Kwon, Elena  ( Children's Hospital at Montefiore , New York , New York , United States )
  • Lipshultz, Steven  ( University at Buffalo Jacobs School of Medicine and Biomedical Sciences , Buffalo , New York , United States )
  • Majeed, Amara  ( Morgan Stanley Children's Hospital , New York , New York , United States )
  • Mansukhani, Gitanjali  ( University of Western Ontario and London Health Science Centre , London , Ontario , Canada )
  • Mcintosh, Amanda  ( University of Missouri-Kansas City School of Medicine , Kansas City , Missouri , United States )
  • Mcvadon, Deani  ( Medical University of South Carolina , Charleston , South Carolina , United States )
  • Michelfelder, Erik  ( Emory University School of Medicine , Atlanta , Georgia , United States )
  • Miller, Michelle  ( Johns Hopkins All Children’s Hospital , St. Petersburg , Florida , United States )
  • Milligan, Caitlin  ( Boston Children's Hospital , Boston , Massachusetts , United States )
  • Mital, Seema  ( The Hospital for Sick Children , Toronto , Ontario , Canada )
  • Montes Gil, Adriana  ( Columbia University Irving Medical Centre , New York , New York , United States )
  • Moon-grady, Anita  ( University of California San Francisco , San Francisco , California , United States )
  • Mulla, Neda  ( Phoenix Childrens Hospital , Phoenix , Arizona , United States )
  • Patel, Sheetal  ( Ann & Robert H Lurie Children’s Hospital of Chicago , Deerfield , Illinois , United States )
  • Pruitt, Cathleen  ( The Children's Heart Clinic , Minneapolis , Minnesota , United States )
  • Qasim, Amna  ( Arkansas Children’s Hospital , Little Rock , Arkansas , United States )
  • Rajagopal, Hari  ( Cohen Children’s Medical Center , Queens , New York , United States )
  • Ro, Sanghee  ( Emory University School of Medicine , Atlanta , Georgia , United States )
  • Schidlow, David  ( Boston Children's Hospital , Boston , Massachusetts , United States )
  • Schneider, Kristin  ( Cincinnati Childrens Hospital Medical Center , Cincinnati , Ohio , United States )
  • Srinivasan, Ranjini  ( NYU Grossman School of Medicine , New York , New York , United States )
  • Sutton, Jennifer  ( The Monroe Carell Jr. Children’s Hospital at Vanderbilt , Nashville , Tennessee , United States )
  • Taylor, Carolyn  ( MUSC Children's Heart Program , Charleston , South Carolina , United States )
  • Mcbrien, Angela  ( University of Alberta , Edmonton , Alberta , Canada )
    • Author Disclosures:
    Astha Burande: DO NOT have relevant financial relationships | Sara Creighton: DO NOT have relevant financial relationships | Bettina Cuneo: DO NOT have relevant financial relationships | Marlayna Despres: DO NOT have relevant financial relationships | Tam Doan: DO NOT have relevant financial relationships | J. Scott Doucet: No Answer | Michelle Grenier: No Answer | Whitnee Hogan: DO NOT have relevant financial relationships | Michelle Kaplinski: DO NOT have relevant financial relationships | Mahima K Bijji: No Answer | Ann Kavanaugh-Mchugh: DO NOT have relevant financial relationships | Lisa Hornberger: DO NOT have relevant financial relationships | Sam Keller: DO NOT have relevant financial relationships | Elena Kwon: No Answer | Steven Lipshultz: No Answer | Amara Majeed: No Answer | Gitanjali Mansukhani: No Answer | Amanda McIntosh: DO NOT have relevant financial relationships | Deani McVadon: No Answer | Erik Michelfelder: DO NOT have relevant financial relationships | Michelle Miller: DO NOT have relevant financial relationships | Caitlin Milligan: No Answer | Oana Caluseriu: No Answer | Seema Mital: No Answer | Adriana Montes Gil: DO NOT have relevant financial relationships | Anita Moon-Grady: DO NOT have relevant financial relationships | Neda Mulla: No Answer | sheetal patel: No Answer | Cathleen Pruitt: DO NOT have relevant financial relationships | Amna Qasim: No Answer | Hari Rajagopal: No Answer | Sanghee Ro: DO NOT have relevant financial relationships | David Schidlow: DO NOT have relevant financial relationships | Shabnam Peyvandi: DO NOT have relevant financial relationships | Kristin Schneider: DO NOT have relevant financial relationships | Ranjini Srinivasan: No Answer | jennifer sutton: No Answer | carolyn taylor: DO NOT have relevant financial relationships | Angela McBrien: DO NOT have relevant financial relationships | Elijah Bolin: DO NOT have relevant financial relationships | Tiscar Cavalle-Garrido: DO NOT have relevant financial relationships | Sue Chandra: No Answer | James Cnota: DO NOT have relevant financial relationships | Jennifer Conway: DO NOT have relevant financial relationships
Meeting Info:

Scientific Sessions 2024

2024

Chicago, Illinois

Session Info:

Genetics and Outcomes Research

Monday, 11/18/2024 , 09:45AM - 11:00AM

Abstract Oral Session

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