Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis

Pediatric Cardiology
Houria DaimiDiego Franco

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 symp...Continue Reading

References

May 4, 2004·Trends in Cardiovascular Medicine·Dan M Roden
Dec 25, 2009·Circulation. Cardiovascular Genetics·Vincent ProbstJean-Jacques Schott
Jan 17, 2012·Circulation. Arrhythmia and Electrophysiology·Naomasa MakitaMario Delmar
Aug 14, 2012·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Priya ChockalingamNico A Blom

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Citations

Nov 21, 2019·Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc·Gretje RoterbergMartin Borggrefe
Jun 17, 2018·Forensic Science, Medicine, and Pathology·Barbara Ströh van DeventerChantal van Niekerk

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