Hereditary Arrhythmias

Editor

Huang, David T., Prinzi, Travis, Kreckel, Sonja

Department

Medicine

Document Type

Book Chapter

Publication Title

Cardiac Electrophysiology in Clinical Practice

Abstract

Ventricular tachyarrhythmias (ventricular tachycardia [VT] or ventricular fibrillation [VF]) are associated with syncope, aborted cardiac arrest (ACA) or sudden cardiac death (SCD). Patients will experience syncope, ACA, or SCD depending on the duration of the VT and whether VT degenerates into VF.

The etiology of these life-threatening hereditary arrhythmias can be classified according to whether structural heart disease is present or not. Structural causes of hereditary arrhythmias include hypertrophic cardiomyopathy (HCM), and arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). Most of the nonstructural causes of hereditary arrhythmias are cardiac channelopathies (disorders involving mutations in genes encoding cardiac ion channels) that include the congenital long QT syndromes (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). Inherited infiltrative cardiomyopathies, such as Fabry disease, are also an important cause of arrhythmias.

This chapter will focus on the clinical and genetic aspects of the LQTS, Brugada syndrome, and ARVC/D, CPVT. It should be noted that these genetic syndromes exhibit incomplete penetrance (i.e., the likelihood that a disease-causing mutation will have a phenotypic expression in a mutation-positive subject) and variable expressivity (i.e., different level of phenotypic expression), implicating environmental factors and possibly other genetic modifiers in the etiology of these diseases.

First Page

219

Last Page

254

DOI

10.1007/978-3-031-41479-4_10

Publication Date

1-2024

Publisher

Springer, Cham

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