{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:50:13Z","timestamp":1787028613924,"version":"build-2736575974"},"reference-count":120,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Traditional definitions of Ebstein\u2019s anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15\u201329% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA\/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA\/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA\/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA\/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes MYH7 and TPM1, the genetic etiology and pathogenesis of EA\/LVNC remain largely unknown.<\/jats:p>","DOI":"10.3390\/jcdd9040115","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T21:33:42Z","timestamp":1649885622000},"page":"115","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Systematic Review of Ebstein\u2019s Anomaly with Left Ventricular Noncompaction"],"prefix":"10.3390","volume":"9","author":[{"given":"Suma K.","family":"Thareja","sequence":"first","affiliation":[{"name":"Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Department of Surgery, Division of Congenital Heart Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele A.","family":"Frommelt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Herma Heart Institute, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1517-6888","authenticated-orcid":false,"given":"Joy","family":"Lincoln","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Herma Heart Institute, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3408-9376","authenticated-orcid":false,"given":"John W.","family":"Lough","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Congenital Heart Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Herma Heart Institute, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoy","family":"Tomita-Mitchell","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Congenital Heart Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"},{"name":"Herma Heart Institute, Children\u2019s Wisconsin, Milwaukee, WI 53226, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1161\/CIRCULATIONAHA.106.619338","article-title":"Ebstein\u2019s anomaly","volume":"115","author":"Connolly","year":"2007","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/tera.1420500208","article-title":"Ebstein\u2019s malformation of the tricuspid valve: Genetic and environmental factors. 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