دورية أكاديمية
أعرض في EDS

Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia

التفاصيل البيبلوغرافية
العنوان: Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
المؤلفون: Keiko Shimamoto, MD, PhD, Naokata Sumitomo, MD, PhD, Taisuke Nabeshima, MD, PhD, Seiko Ohno, MD, PhD, Wataru Shimizu, MD, PhD, Kengo Kusano, MD, PhD, Takeshi Aiba, MD, PhD
المصدر: JACC: Case Reports, Vol 29, Iss 11, Pp 102364- (2024)
بيانات النشر: Elsevier, 2024.
سنة النشر: 2024
المجموعة: LCC:Diseases of the circulatory (Cardiovascular) system
مصطلحات موضوعية: CPVT, electrocardiogram, genetics, pharmacology, TECRL, Diseases of the circulatory (Cardiovascular) system, RC666-701
الوصف: A 10-year-old female patient experienced syncope while swimming, and electrocardiography revealed polymorphic ventricular tachycardia, leading to a diagnosis of catecholaminergic polymorphic ventricular tachycardia. No pathogenic variant was identified in RYR2. Additional comprehensive genetic testing revealed novel compound heterozygous variants in trans-2,3-enoyl-coenzyme A reductase–like gene, which caused a recessive form of catecholaminergic polymorphic ventricular tachycardia.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2666-0849
Relation: http://www.sciencedirect.com/science/article/pii/S2666084924001578; https://doaj.org/toc/2666-0849
DOI: 10.1016/j.jaccas.2024.102364
URL الوصول: https://doaj.org/article/c6f99067e7e24baf86b7ff704e70a194
رقم الأكسشن: edsdoj.6f99067e7e24baf86b7ff704e70a194
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:26660849
DOI:10.1016/j.jaccas.2024.102364