Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review

Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review

BackgroundMutations in the CACNA1C gene–encoding for the major Ca2+ channel of the heart–may exhibit a variety of clinical manifestations. These include typical or atypical Timothy syndromes (TS) which are associated with multiple organ manifestations, and cardiac involvement in form of malignant ar...

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Bibliographic Details
Main Authors: János Borbás, Máté Vámos, Lidia Hategan, Lilla Hanák, Nelli Farkas, Zsolt Szakács, Dezső Csupor, Bálint Tél, Péter Kupó, Beáta Csányi, Viktória Nagy, András Komócsi, Tamás Habon, Péter Hegyi, Róbert Sepp
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
CACNA1C gene
Timothy syndrome
mortality
long QT syndrome
L-type calcium channel
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2022.1021009/full

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https://www.frontiersin.org/articles/10.3389/fcvm.2022.1021009/full

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