Electrocardiographic pattern of Brugada syndrome disclosed by a febrile illness: clinical and therapeutic implications.
ABSTRACT Recent studies have identified a direct link between the ionic mechanisms responsible for the electrocardiographic (ECG) pattern of the Brugada syndrome (BS) and the in vitro experimental temperature, pointing to the possibility that some BS patients may display the ECG phenotype only during a febrile state, being in this setting at risk of lethal arrhythmias.
A 53-year-old man referred to the emergency room for abdominal pain and fever. The ECG showed dome-shaped ST-segment elevation in V1-V3, as in the typical BS. The personal and family history were unremarkable for syncope and sudden death and physical, laboratory and ultrasound examinations were negative. On day 3, at normal body temperature, the patient's ECG returned to normal and the ECG abnormalities were later reproduced with intravenous flecainide. The patient refused the implantation of a loop recorder and was discharged after 6 days. He has remained asymptomatic during 2 years of follow-up.
The typical ECG phenotype of BS disclosed by a febrile illness confirms the in vitro experimental data that previously established a correlation between ECG pattern of BS and temperature variations. The clinical and therapeutic implications of these findings are discussed.
- SourceAvailable from: Pawel Ptaszynski[Show abstract] [Hide abstract]
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ABSTRACT: Mutations in the α-subunit of cardiac sodium channel gene SCN5A can lead to the overlapping phenotypes of both the Brugada and type 3 long QT syndromes. However, the combination of Brugada and a short QT phenotype resulting from mutation in SCN5A has not previously been described. A man with concomitant Brugada-like and short QT electrocardiogram (ECG) was identified and the SCN5A gene was sequenced. Whole-cell patch clamp analysis of human embryo kidney (HEK) 293 cells expressing a SCN5A channel with the patient's sequence was used to investigate the biophysical properties of the channel. The patient with the family history of sudden death showed Brugada-like and short QT interval ECG. Sequence anlaysis of the coding region of the SCN5A gene, identified a G to A heterozygous missense mutation at nucleotide site 2066 that resulted in a amino-acid substitution of arginine to histidine at amino-acid site 689 (R689H). Patch clamp analysis showed that the R689H failed to generate current when heterologously expressed in HEK293 cells, indicating it was a loss-of-function mutation. Our finding firstly showes that a heterozygous missense mutation R689H in SCN5A gene results in the loss of protein function and the coexistents of the Brugada-like and short QT interval ECG phenotypes.European journal of human genetics: EJHG 04/2012; 20(11):1189-92. · 3.56 Impact Factor
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