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L-type Calcium Channel Disease

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Electrical Diseases of the Heart

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Abstract

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.

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Author information

Authors and Affiliations

  1. Molecular Cardiology Laboratories, IRCCS Salvatore Maugeri Foundation, Pavia, Italy

    Yanfei Ruan MD (Research Fellow) & Raffaella Bloise MD (Medical Genetic Counselor)

  2. School of Cardiology, University of Pavia Molecular Cardiology Laboratories, Pavia, Italy

    Carlo Napolitano MD, PhD (Adjunct Professor, Research Coordinator)

  3. Department of Molecular Cardiology IRCCS Salvatore Maugeri Foundation, University of Pavia, Pavia, Italy

    Silvia G. Priori MD, PhD (Professor of Cardiology, Director of Molecular Cardiology)

Authors
  1. Yanfei Ruan MD
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  2. Raffaella Bloise MD
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  3. Carlo Napolitano MD, PhD
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  4. Silvia G. Priori MD, PhD
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Editor information

Editors and Affiliations

  1. Cardiovascular Boehringer Ingelheim Pharmaceuticals Ridgefield, CT, USA

    Ihor Gussak MD, PhD, FACC (Deputy Therapeutic Area Head, Professor of Pharmacology) (Deputy Therapeutic Area Head, Professor of Pharmacology)

  2. Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Bridgewater, NJ, USA

    Ihor Gussak MD, PhD, FACC (Deputy Therapeutic Area Head, Professor of Pharmacology) (Deputy Therapeutic Area Head, Professor of Pharmacology)

  3. Gordon K. Moe Scholar Masonic Medical Research Laboratory, Utica, NY, USA

    Charles Antzelevitch PhD, FACC, FAHA, FHRS (Executive Director and Director of Research) (Executive Director and Director of Research)

  4. Upstate Medical University, Syracuse, NY, USA

    Charles Antzelevitch PhD, FACC, FAHA, FHRS (Executive Director and Director of Research) (Executive Director and Director of Research)

  5. Heart Failure Research Center Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands

    Arthur A. M. Wilde MD, PhD, FESC, FAHA (Professor) (Professor)

  6. Mayo Clinic College of Medicine, Rochester, MN, USA

    Paul A. Friedman MD (Professor of Medicine) & Michael J. Ackerman MD, PhD, FACC (Professor of Medicine, Pediatrics and Pharmacology, Consultant Cardiovascular Disease and Pediatric Cardiology, Director Long QT Syndrome Clinic and the Mayo Clinic Windland Smith Rice Sudden Death Genomics) (Professor of Medicine) &  (Professor of Medicine, Pediatrics and Pharmacology, Consultant Cardiovascular Disease and Pediatric Cardiology, Director Long QT Syndrome Clinic and the Mayo Clinic Windland Smith Rice Sudden Death Genomics)

  7. Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, MN, USA

    Win-Kuang Shen MD (Consultant, Professor of Medicine) (Consultant, Professor of Medicine)

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© 2008 Springer-Verlag London Limited

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Ruan, Y., Bloise, R., Napolitano, C., Priori, S.G. (2008). L-type Calcium Channel Disease. In: Gussak, I., Antzelevitch, C., Wilde, A.A.M., Friedman, P.A., Ackerman, M.J., Shen, WK. (eds) Electrical Diseases of the Heart. Springer, London. https://doi.org/10.1007/978-1-84628-854-8_11

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  • DOI: https://doi.org/10.1007/978-1-84628-854-8_11

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84628-853-1

  • Online ISBN: 978-1-84628-854-8

  • eBook Packages: MedicineMedicine (R0)

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