Pubblicazioni

Autori:

Lippi, Giuseppe; Montagnana, Martina; Meschi, T; Comelli, ; Cervellin, G.

Titolo:

Genetic and clinical aspects of Brugada syndrome: an update.

Anno:

2012

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

ADVANCES IN CLINICAL CHEMISTRY

ISSN Rivista:

0065-2423

N° Volume:

56

Editore:

Academic Press Incorporated:6277 Sea Harbor Drive:Orlando, FL 32887:(800)543-9534, (407)345-4100, EMAIL: ap@acad.com, INTERNET: http://www.idealibrary.com, Fax: (407)352-3445

Intervallo pagine:

197-208

Parole chiave:

Brugada Syndrome; ion channel; cardiovascular disease; sudden cardiac death.

Breve descrizione dei contenuti:

The Brugada Syndrome (BS) is a "channellopathy," characterized by ion (e.g., sodium, calcium, and potassium) channel dysfunction and typical ECG alterations, originally described by Osher and Wolff in 1953 and further elucidated by Josep and Pedro Brugada in 1991. BS is typically associated with a high risk for sudden cardiac death (SCD) in young and otherwise healthy adults. Although in several patients the heart is structurally normal, subtle structural abnormalities in the right ventricular outflow tract are increasingly been reported. The worldwide prevalence of this disorder is still uncertain, and there are some significant regional differences. The syndrome is characterized by a strong genetic basis, and several mutations have been identified in genes encoding subunits of cardiac sodium, potassium, and calcium channels, as well as in genes involved in the trafficking or regulation of these channels. Accordingly, eight types of BS (from BS1 to BS8) have already been described, involving mutations in SCN5A, GPD1-L, CACNA1c, CACNB2b, SCN1B, KCNE3, SCN3B, and HCN4 genes. The vast majority (i.e., up to two-third) of BS patients is asymptomatic, whereas the leading clinical manifestation is polymorphic ventricular tachycardia that can degenerate into ventricular fibrillation (VF) and SCD. The diagnosis is still challenging, and ECG abnormalities represent one component of the diagnostic criteria which also include clinical and demographic data. Although molecular genetic testing is effective in detecting mutations in 20-38% of BS patients, it represents an appealing option for stratifying the risk of adverse events as well as for prenatal testing.

Id prodotto:

67310

Handle IRIS:

11562/349040

depositato il:

28 maggio 2012

ultima modifica:

15 novembre 2022

Citazione bibliografica:

Lippi, Giuseppe; Montagnana, Martina; Meschi, T; Comelli, ; Cervellin, G., Genetic and clinical aspects of Brugada syndrome: an update. «ADVANCES IN CLINICAL CHEMISTRY» , vol. 56 , 2012 , pp. 197-208

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