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The genetics of left ventricular noncompaction

Cannie, D; Elliott, P; (2021) The genetics of left ventricular noncompaction. Current Opinion in Cardiology , 36 (3) pp. 301-308. 10.1097/HCO.0000000000000844. Green open access

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Abstract

Purpose of review: This article summarises current understanding of the genetic architecture underpinning left ventricular noncompaction (LVNC) and highlights the difficulty in differentiating LVNC from hypertrabeculation seen in normal, healthy individuals, that caused by physiological adaptation or that seen in association with cardiomyopathy phenotypes. Recent findings: Progress has been made in better defining the LVNC phenotype and those patients who may benefit from genetic testing. Yield of diagnostic genetic testing may be low in the absence of syndromic features, systolic dysfunction and a family history of cardiomyopathy. Sarcomeric gene variants are most commonly identified but a wide-range of genes are implicated, emphasising the high degree of heterogeneity of studied cohorts. Summary: More accurate phenotyping and genotype–phenotype correlation are required to better characterise the genetic architecture of LVNC.

Type: Article
Title: The genetics of left ventricular noncompaction
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/HCO.0000000000000844
Publisher version: http://dx.doi.org/10.1097/HCO.0000000000000844
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: cardiomyopathy, genetics, hypertrabeculation, noncompaction, NON-COMPACTION, DILATED CARDIOMYOPATHY, MUTATIONS, CLASSIFICATION, ASSOCIATION, BRADYCARDIA, MYOCARDIUM, STATEMENT, INSIGHTS, GENOMICS
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10139974
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