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Provocative (Drug) Testing in Inherited Arrhythmias

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Electrical Diseases of the Heart

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Abstract

Molecular genetic studies have established a link between a number of heritable channelopathies, including congenital long QT syndrome (LQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT), and mutations in genes encoding for ion channels or other membrane components, therefore, have become a golden standard for diagnosing these channelopathies. Clinical diagnosis by standard 12-lead electrocardiography (ECG) at baseline misses some patients, who are genetically affected by these channelopathies (so called concealed form). Therefore, there is a strong need to devise clinical tools to improve the sensitivity of clinical tests to establish the diagnosis of these heritable channelopathies. Provocative testing with catecholamines and pharmacologic testing with sodium channel blockers are critical diagnostic tests in the evaluation of these heritable channelopathies and enable to unmask LQTS, BrS, and CPVT in their concealed state.

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Acknowledgement.

Dr. W Shimizu was supported in part by the Research Grant for the Cardiovascular Diseases (H24-033) from the Ministry of Health, Labour and Welfare, Japan, and Grant-in-Aid for Scientific Research on Innovative Areas (22136011).

Dr. Ackerman’s research program was supported by the National Institutes of Health (HD42569 and P01HL 94291), the CJ Foundation for SIDS, the Dr. Scholl Foundation, the Hannah M. Wernke Memorial Foundation, the Sheikh Zayed Saif Mohammed Al Nahyan Fund in Pediatric Cardiology Research, and the Mayo Clinic Windland Smith Rice Comprehensive Sudden Cardiac Death Program.

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Authors and Affiliations

  1. Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565, Japan

    Wataru Shimizu MD, PhD

  2. Division of Cardiology, Department of Internal Medicine, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan

    Wataru Shimizu MD, PhD

  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. Wataru Shimizu MD, PhD
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  2. Michael J. Ackerman MD, PhD, FACC
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Correspondence to Wataru Shimizu MD, PhD .

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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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Shimizu, W., Ackerman, M.J. (2013). Provocative (Drug) Testing in Inherited Arrhythmias. In: Gussak, I., Antzelevitch, C. (eds) Electrical Diseases of the Heart. Springer, London. https://doi.org/10.1007/978-1-4471-4978-1_18

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  • DOI: https://doi.org/10.1007/978-1-4471-4978-1_18

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