早发性心脏骤停、QT间期延长和左心室肥厚：一种致病性新发钙调蛋白变体的表型表现。 - Suppr

Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant.

作者信息

Wong Leonie C H, Roses-Noguer Ferran, Bueno Andrea, Villabriga Begoña Benito, Homfray Tessa, Till Jan

机构信息

Department of Paediatric Cardiology, Royal Brompton Hospital, London, United Kingdom.

Department of Paediatric Cardiology, Vall d'Hebron University Hospital, Barcelona, Spain.

出版信息

HeartRhythm Case Rep. 2023 Aug 31;9(12):858-862. doi: 10.1016/j.hrcr.2023.08.015. eCollection 2023 Dec.

DOI:10.1016/j.hrcr.2023.08.015

PMID:38204837

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10774527/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef69/10774527/8f2ae97a5ae0/gr1.jpg

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Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.

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A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest.

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Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

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CALM3 mutation associated with long QT syndrome.

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Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

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Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant.

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