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Erschienen in: Pediatric Cardiology 5/2015

01.06.2015 | Case Report

Absence of Family History and Phenotype–Genotype Correlation in Pediatric Brugada Syndrome: More Burden to Bear in Clinical and Genetic Diagnosis

verfasst von: Houria Daimi, Amel Haj Khelil, Khaldoun Ben Hamda, Amelia Aranega, Jemni B. E. Chibani, Diego Franco

Erschienen in: Pediatric Cardiology | Ausgabe 5/2015

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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.
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Metadaten
Titel
Absence of Family History and Phenotype–Genotype Correlation in Pediatric Brugada Syndrome: More Burden to Bear in Clinical and Genetic Diagnosis
verfasst von
Houria Daimi
Amel Haj Khelil
Khaldoun Ben Hamda
Amelia Aranega
Jemni B. E. Chibani
Diego Franco
Publikationsdatum
01.06.2015
Verlag
Springer US
Erschienen in
Pediatric Cardiology / Ausgabe 5/2015
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-015-1133-5

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