title: Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis.
abstract: Brugada syndrome (BrS) is an autosomal-dominant genetic cardiac disorder caused in 18-30 % of the cases by SCN5A gene mutations and manifested by an atypical right bundle block pattern with ST segment elevation and T wave inversion in the right precordial leads. The syndrome is usually detected after puberty. The identification of BrS in pediatric patients is thus a rare occurrence, and most of the reported cases are unmasked after febrile episodes. Usually, having a family history of sudden death represents the first reason to perform an ECG in febrile children. However, this practice makes the sporadic cases of cardiac disease and specially the asymptomatic ones excluded from this diagnosis. Here, we report a sporadic case of a 2-month-old male patient presented with vaccination-related fever and ventricular tachycardia associated with short breathing, palpitation and cold sweating. ECG changes were consistent with type 1 BrS. SCN5A gene analysis of the proband and his family revealed a set of mutations and polymorphisms differentially distributed among family members, however, without any clear genotype-phenotype correlation. Based on our findings, we think that genetic testing should be pursued as a routine practice in symptomatic and asymptomatic pediatric cases of BrS, with or without family history of sudden cardiac death. Similarly, our study suggests that pediatrician should be encouraged to perform an ECG profiling in suspicious febrile children and quickly manage fever since it is the most important factor unmasking BrS in children.
authors.affiliation: Department of Experimental Biology, University of Jaen, 23071, Jaén, Spain.
authors.forename: Houria
authors.initials: H
authors.lastname: Daimi
authors.forename: Amel Haj
authors.initials: AH
authors.lastname: Khelil
authors.forename: Khaldoun
authors.initials: K
authors.lastname: Ben Hamda
authors.forename: Amelia
authors.initials: A
authors.lastname: Aranega
authors.forename: Jemni B E
authors.initials: JB
authors.lastname: Chibani
authors.forename: Diego
authors.initials: D
authors.lastname: Franco
mesh_terms: D053840:Brugada Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005190:Family; D005334:Fever / Q000209:etiology; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010641:Phenotype; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human