Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
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Abstract
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 . 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.
References
1.
Bhuiyan Z, Hamdan M, Shamsi E, Postma A, Mannens M, Wilde A
. A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiovasc Electrophysiol. 2007; 18(10):1060-6.
DOI: 10.1111/j.1540-8167.2007.00913.x.
View
2.
Wilde A, Semsarian C, Marquez M, Sepehri Shamloo A, Ackerman M, Ashley E
. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. J Arrhythm. 2022; 38(4):491-553.
PMC: 9347209.
DOI: 10.1002/joa3.12717.
View
3.
Devalla H, Gelinas R, Aburawi E, Beqqali A, Goyette P, Freund C
. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Mol Med. 2016; 8(12):1390-1408.
PMC: 5167130.
DOI: 10.15252/emmm.201505719.
View
4.
Charafeddine F, Assaf N, Ismail A, Bulbul Z
. Novel trans-2,3-enoyl-CoA reductase-like variant associated with catecholaminergic polymorphic ventricular tachycardia type 3. HeartRhythm Case Rep. 2023; 9(3):171-177.
PMC: 10030308.
DOI: 10.1016/j.hrcr.2022.12.013.
View
5.
Ebrahim M, Alkhabbaz A, Albash B, AlSayegh A, Webster G
. Trans-2,3-enoyl-CoA reductase-like-related catecholaminergic polymorphic ventricular tachycardia with regular ventricular tachycardia and response to flecainide. J Cardiovasc Electrophysiol. 2023; 34(9):1996-2001.
DOI: 10.1111/jce.16011.
View