L-type calcium channel disease

Yanfei Ruan, Raffaella Bloise, Carlo Napolitano, Silvia G. Priori

Research output: Chapter in Book/Report/Conference proceedingChapter


In recent years, the progress of molecular genetics of inherited arrhythmogenic diseases portrays an unexpected complexity of clinical phenotypes associated with mutations in several genes that control cardiac excitability. Among the most recent findings, the voltage-gated L-type cardiac calcium channel (Cav1.2) has been involved in the pathogenesis of Timothy syndrome (TS). TS is a variant of the long QT syndrome (also LQT8) and it is a rare and severe genetic disorder characterized by a spectrum of complex phenotypes including QT interval prolongation, congenital heart defects, syndactyly, and distinctive dysmorphic features. So far TS is the only inherited arrhythmogenic disorder linked to cardiac calcium channel mutations. In this chapter, we will briefly review the structure, physiology, and pathophysiology of the cardiac Cav1.2 encoded by the CACNA1c gene.

Original languageEnglish
Title of host publicationElectrical Diseases of the Heart: Genetics, Mechanisms, Treatment, Prevention
PublisherSpringer London
Number of pages7
ISBN (Print)9781846288531
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Medicine(all)


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