January 1, 2011International Heart JournalOpen Access

Identification of Six Novel SCN5A Mutations in Japanese Patients With Brugada Syndrome

View Full Paper

Ask AI

Bookmark

Population

30 Japanese probands with Brugada-pattern ECG, including 7 resuscitated from cardiopulmonary arrest, 10 with…

Design

Case_series

Authors

TNTadashi NakajimaGunma University YKYoshiaki KanekoGunma University ASAkihiro SaitoBunkyo University

Discussion

Member takes

Implication

May support expanded SCN5A screening in Brugada syndrome; hypothesis-generating without altering current practice.

Structured PICO

Population

30 Japanese probands (25 male subjects, 45 ± 15 years of age) with Brugada-pattern ECG, including 7 resuscitated from cardiopulmonary arrest (CPA group), 10 with a history of syncope (Sy group), and 13 asymptomatic (Asy group).

Intervention

Genetic analysis of the SCN5A gene

Outcome

Identification of SCN5A mutationssurrogate

The identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome expands the known genetic heterogeneity of the disease.

Limitations

Lack of functional analyses of the mutated SCN5A gene using in vitro electrophysiological assays to understand the pathogenic role of each mutation.

Cite This Study

Nakajima et al. (2011) studied this question.

synapsesocial.com/papers/6a8a568706e1858e55de851b https://doi.org/10.1536/ihj.52.27

View Full Paper

Ask AI

Bookmark

Identification of Six Novel SCN5A Mutations in Japanese Patients With Brugada Syndrome

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Identification of Six Novel SCN5A Mutations in Japanese Patients With Brugada Syndrome

Discussion

Member takes

Implication

Structured PICO

Limitations

Cite This Study

Also Consider

Also Consider