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A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction

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 manif...

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Autores principales: Thareja, Suma K., Frommelt, Michele A., Lincoln, Joy, Lough, John W., Mitchell, Michael E., Tomita-Mitchell, Aoy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031964/
https://www.ncbi.nlm.nih.gov/pubmed/35448091
http://dx.doi.org/10.3390/jcdd9040115
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author Thareja, Suma K.
Frommelt, Michele A.
Lincoln, Joy
Lough, John W.
Mitchell, Michael E.
Tomita-Mitchell, Aoy
author_facet Thareja, Suma K.
Frommelt, Michele A.
Lincoln, Joy
Lough, John W.
Mitchell, Michael E.
Tomita-Mitchell, Aoy
author_sort Thareja, Suma K.
collection PubMed
description 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.
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spelling pubmed-90319642022-04-23 A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction Thareja, Suma K. Frommelt, Michele A. Lincoln, Joy Lough, John W. Mitchell, Michael E. Tomita-Mitchell, Aoy J Cardiovasc Dev Dis Systematic Review 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. MDPI 2022-04-13 /pmc/articles/PMC9031964/ /pubmed/35448091 http://dx.doi.org/10.3390/jcdd9040115 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Systematic Review
Thareja, Suma K.
Frommelt, Michele A.
Lincoln, Joy
Lough, John W.
Mitchell, Michael E.
Tomita-Mitchell, Aoy
A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction
title A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction
title_full A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction
title_fullStr A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction
title_full_unstemmed A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction
title_short A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction
title_sort systematic review of ebstein’s anomaly with left ventricular noncompaction
topic Systematic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031964/
https://www.ncbi.nlm.nih.gov/pubmed/35448091
http://dx.doi.org/10.3390/jcdd9040115
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