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Congenital Long QT Syndrome

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Electrical Diseases of the Heart

Abstract

With an incidence as high as 1 in 2,000–2,500 live births, long QT syndrome (LQTS) is often characterized clinically by prolongation of the heart rate corrected QT interval (QTc) on a 12-lead surface electrocardiogram (ECG) and is associated with syncope, seizures, and sudden cardiac death due to ventricular arrhythmias usually following a precipitating event such as exertion, extreme emotion, or auditory stimulation. The phenotypic expression of LQTS varies profoundly from asymptomatic longevity to premature sudden cardiac death despite medical therapy. Therefore the clinical/genetic diagnostic evaluation and risk-stratification are highly important issues in the clinical management of LQTS. This chapter will review the historical background, epidemiology and prevalence, molecular genetics, and clinical presentations of LQTS, explore unique genotype – phenotype relationships that help define the various forms of the disorder, and provide a detailed outline for the diagnostic evaluation and clinical management of LQTS patients including current treatment strategies and recommendations.

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Authors and Affiliations

  1. Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, 200 First St SW, Rochester, MN, 55905, USA

    David J. Tester BS

  2. Department of Molecular Medicine, University of Pavia and IRCCS Policlinico S. Matteo, Pavia, Italy

    Peter J. Schwartz MD

  3. Department of Medicine, Division of Cardiovascular Diseases, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA

    Michael J. Ackerman MD, PhD, FACC

Authors
  1. David J. Tester BS
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  2. Peter J. Schwartz MD
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  3. Michael J. Ackerman MD, PhD, FACC
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Correspondence to Michael J. Ackerman MD, PhD, FACC .

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Editors and Affiliations

  1. , Department of Internal Medicine, UMDNJ-RWJ Medical School, Robert Wood Johnson Pl. 1, New Brunswick, 08903-0019, New Jersey, USA

    Ihor Gussak

  2. , Gordon K. Moe Scholar, Masonic Medical Research Laboratory, Bleecker Street, Utica, 13501-1787, New York, USA

    Charles Antzelevitch

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Tester, D.J., Schwartz, P.J., Ackerman, M.J. (2013). Congenital Long QT Syndrome. In: Gussak, I., Antzelevitch, C. (eds) Electrical Diseases of the Heart. Springer, London. https://doi.org/10.1007/978-1-4471-4881-4_27

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