PO-04-090 2 HIT WONDER: AUTOSOMAL RECESSIVE-CPVT WITH CONDUCTION DISEASE
نویسندگان
چکیده
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a primary arrhythmogenic syndrome with clinical manifestations of syncope and sudden death following exercise or agitation. Present familial cases autosomal recessive CPVT due to homozygous variants in RYR2 associated conduction disease. The case was reviewed detail as below. A 14 year-old girl presented out hospital cardiac arrest at trampoline park. AED strip demonstrated ventricular fibrillation that terminated sinus rhythm electrical cardioversion. Workup notable for resting ECG rate 52 bpm, PR 238 right bundle branch block QRS duration 145ms . Exercise stress test resulted frequent premature beats bidirectional couplets. Genetic testing homozygosity novel VUS (c.9392A>C (p.Tyr3131Ser)). Analysis by REVEL score (0.763), predicting pathogenicity. Parents were found be heterozygous asymptomatic carriers the same variant one sibling variant. This had prolonged interval intraventricular delay phenotypically positive during test. Two siblings who normal tests. proband started on nadalol flecainide dual chamber ICD placed secondary prevention significant bradycardia prior initiation antiarrhythmics. On follow up EST patient noted have acute onset high grade AV resulting pacing well runs atrial tachycardia. Baseline did not demonstrate widening level within limits. affected nadolol. We report two patients manifesting Further study this distinct phenotype warranted.
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ژورنال
عنوان ژورنال: Heart Rhythm
سال: 2023
ISSN: ['1556-3871', '1547-5271']
DOI: https://doi.org/10.1016/j.hrthm.2023.03.1255