A Systematic Review of Ebstein's Anomaly with Left Ventricular Noncompaction. J Cardiovasc Dev Dis 2022 Apr 13;9(4)
Date
04/22/2022Pubmed ID
35448091Pubmed Central ID
PMC9031964DOI
10.3390/jcdd9040115Scopus ID
2-s2.0-85129039352 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
Traditional definitions of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15-29% 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.
Author List
Thareja SK, Frommelt MA, Lincoln J, Lough JW, Mitchell ME, Tomita-Mitchell AAuthors
Michele Ann Frommelt MD Adjunct Professor in the Pediatrics department at Medical College of WisconsinJohn W. Lough PhD Professor in the Cell Biology, Neurobiology and Anatomy department at Medical College of Wisconsin
Michael Edward Mitchell MD Chief, Professor in the Surgery department at Medical College of Wisconsin
Aoy Tomita Mitchell PhD Professor in the Surgery department at Medical College of Wisconsin
