{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T14:44:42Z","timestamp":1785768282908,"version":"3.56.0"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T00:00:00Z","timestamp":1684540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Cardiomyopathies are diseases of the heart muscle with variable clinical expressivity. Most of forms are inherited as dominant trait, and with incomplete penetrance until adulthood. Severe forms of cardiomyopathies were observed during the antenatal period with a pejorative issue leading to fetal death or medical interruption of pregnancy. Variable phenotypes and genetic heterogeneity make etiologic diagnosis difficult. We report 11 families (16 cases) whose unborn, newborn or infant with early onset cardiomyopathies. Detailed morphological and histological examinations of hearts were implemented, as well as genetic analysis on a cardiac targeted NGS panel. This strategy allowed the identification of the genetic cause of the cardiomyopathy in 8\/11 families. Compound heterozygous mutations in dominant adulthood cardiomyopathy genes were found in two, pathogenic variants in co\u2010dominant genes in one, de novo mutations in 5 including a germline mosaicism in one family. Parental testing was systematically performed to detect mutation carriers, and to manage cardiological surveillance and propose a genetic counseling. This study highlights the great diagnostic value of the genetic testing of severe antenatal cardiomyopathy both for genetic counseling and to detect presymptomatic parents at higher risk of developing cardiomyopathy.<\/jats:p>","DOI":"10.1111\/cge.14333","type":"journal-article","created":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T04:34:05Z","timestamp":1684557245000},"page":"63-72","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Morphological and genetic causes of fetal cardiomyopathies"],"prefix":"10.1111","volume":"104","author":[{"given":"Eva","family":"Kohaut","sequence":"first","affiliation":[{"name":"APHP\u2010Service de G\u00e9n\u00e9tique Clinique, H\u00f4pital Necker  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7891-3385","authenticated-orcid":false,"given":"Flavie","family":"Ader","sequence":"additional","affiliation":[{"name":"APHP\u2010Sorbonne Universit\u00e9\u2010DMU BioGem\u2010Unit\u00e9 Fonctionnelle de Cardiog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et cellulaire, Service de Biochimie M\u00e9tabolique H\u00f4pitaux Universitaires Piti\u00e9\u2010Salp\u00eatri\u00e8re \u2013 Charles Foix  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9789-3591","authenticated-orcid":false,"given":"Caroline","family":"Rooryck","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Groupe Hospitalier Pellegrin, Place Amelie Raba L\u00e9on CHU Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Pelluard","sequence":"additional","affiliation":[{"name":"Univ. 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