Cardiac Arrhythmia, Ankyrin-B-Related (LQT4)

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OMIM 57 600919 MedGen 42 C1970119 C1833154 MeSH 44 D008133

SNOMED-CT via HPO 69 263681008 271594007 272030005 309585006 95281009 111975006 49710005 49436004 more UMLS 73 C1970119 C1833154

OMIM : ⁵⁷ 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 (Mohler et al., 2007). (600919)

MalaCards based summary : Cardiac Arrhythmia, Ankyrin-B-Related, also known as long qt syndrome 4, is related to sinoatrial node disease and atrial fibrillation, and has symptoms including syncope An important gene associated with Cardiac Arrhythmia, Ankyrin-B-Related is ANK2 (Ankyrin 2). Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

Genetics Home Reference : ²⁵ Ankyrin-B syndrome is associated with a variety of heart problems related to disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled by electrical signals that move through the heart in a highly coordinated way. In ankyrin-B syndrome, disruption of different steps of electrical signaling can lead to arrhythmia, and the resulting heart problems vary among affected individuals.

UniProtKB/Swiss-Prot : ⁷⁵ Long QT syndrome 4: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature.

Clinical features from OMIM:

600919

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