Cardiac arrhythmia, Ankyrin-B-related

Common Name(s)

Cardiac arrhythmia, Ankyrin-B-related

Loss-of-function mutations in ANK2 can result in a broad spectrum of clinical cardiac phenotypes. Carriers of some mutations (e.g., E1425G, {106410.0001}) display QT interval prolongation, stress- and/or exercise-induced polymorphic ventricular arrhythmia, syncope, and sudden cardiac death. Patients with other variants show clinical phenotypes, sometimes mild, extending beyond LQTS, leading to the label 'ankyrin-B syndrome.' These phenotypes include bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia ({1:Mohler et al., 2007}).
 

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Condition Specific Organizations

Following organizations serve the condition "Cardiac arrhythmia, Ankyrin-B-related" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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