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由于MYH 7基因的新型突变导致的家族性左心室心肌致密化不全心肌病。

Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene.

作者信息

Alawani Sujata S, Paul Abraham, Krishna Mani Ram, Ahamed Hisham

机构信息

Department of Pediatric Cardiology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

Department of Cardiology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

出版信息

Ann Pediatr Cardiol. 2021 Oct-Dec;14(4):544-546. doi: 10.4103/apc.APC_92_20. Epub 2022 Mar 25.

DOI:10.4103/apc.APC_92_20
PMID:35527761
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9075559/
Abstract

Left Ventricular Non Compaction (LVNC) is considered a unique cardiomyopathy according to the American Heart Association guidelines. The genetic ethology of LVNC in children is not completely understood although upto 41% of LVNC are thought to be genetic. We report a family with LVNC due to a novel mutation in the MYH 7 gene.

摘要

根据美国心脏协会的指南，左心室心肌致密化不全（LVNC）被认为是一种独特的心肌病。尽管高达41%的LVNC被认为是遗传性的，但儿童LVNC的遗传病因尚未完全明确。我们报告了一个因MYH 7基因新突变而患LVNC的家族。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd7a/9075559/7780ceb1cd8b/APC-14-544-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd7a/9075559/2083007ad9b3/APC-14-544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd7a/9075559/7780ceb1cd8b/APC-14-544-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd7a/9075559/2083007ad9b3/APC-14-544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd7a/9075559/7780ceb1cd8b/APC-14-544-g003.jpg

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Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
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