What does this research mean for the field?

In Korean patients, congenital Long QT Syndrome exhibits various genetic mutations with low penetrance, and a QTc interval exceeding 0.508 seconds serves as a predictive threshold for major cardiac events. Novelty: ClaimNovelty.CONFIRMATORY. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

Investigate the clinical features, genetic profiles, and treatment responses in Korean patients diagnosed with congenital long QT syndrome and their family members.

January 1, 2013Journal of Korean Medical ScienceOpen Access

QTc longer than 0.508 sec was a cut-off value for major cardiac events (sensitivity 0.806, specificity 0.600), and beta-blocker therapy significantly reduced the longest QTc interval (0.536 ± 0.079 sec vs 0.492 ± 0.061 sec, p=0.007).

View Full Paper

Ask AI

Bookmark

Population

81 Korean patients, comprising 62 probands and 19 family members with LQT gene mutation. Proband median age…

Design

Cohort

Follow-up

mean 4.2 ± 3.5 years

Authors

YLYun‐Sik LeePusan National University BKBo-Sang KwonSeoul National University GKGi Beom KimSeoul National University

Discussion

Member takes

Overview

May aid LQTS risk stratification in Koreans; leaves open beta-blocker outcome benefit pending prospective trials.

Key Points

Investigate the clinical features, genetic profiles, and treatment responses in Korean patients diagnosed with congenital long QT syndrome and their family members.
Evaluated 62 probands with long QT syndrome (QTc ≥ 0.47 sec) and 19 family members at a single center in Korea.
Performed genetic screening in 61 individuals and analyzed clinical presentations, ECG variables, and responses to beta-blockers and implantable cardioverter defibrillators.
Identified causative genetic mutations in 40 of 61 tested patients (KCNQ1 in 19, KCNH2 in 10, SCN5A in 7, KCNJ2 in 3, CACNA1C in 1), showing 57.9% penetrance in families.
QTc was significantly prolonged in patients with syncope (P=0.001), ventricular tachycardia (P=0.017), and aborted cardiac arrest (P=0.010), with QTc > 0.508 sec predicting major cardiac events (sensitivity 0.806, specificity 0.600).
Beta-blocker therapy produced a significant reduction in QTc intervals (P=0.007), while implantable cardioverter defibrillators were required in 6 high-risk patients.

Structured PICO

Population

81 Korean patients, comprising 62 probands (QTc ≥ 0.47 sec or positive genetic test for LQTS) and 19 family members with LQT gene mutation. Proband median age 15.8 years, 54.8% female.

Intervention

Beta-blocker therapy (prescribed in 66.1% of probands and 31.6% of family members) and implantable cardioverter-defibrillator (ICD) implantation (in 6 patients).

Outcome

Major cardiac events (composite of syncope, ventricular tachycardia, and aborted cardiac arrest) and reduction in longest QTc interval.composite

In a Korean cohort with Long QT Syndrome, a QTc > 0.508 sec was predictive of major cardiac events, and beta-blocker therapy effectively reduced QTc intervals.

Limitations

small sample size

Cite This Study

Lee et al. (2013) studied this question.

synapsesocial.com/papers/6a1e42b040bc8a3dd768aff0 https://doi.org/10.3346/jkms.2013.28.10.1454

View Full Paper

Ask AI

Bookmark

January 1, 2013Journal of Korean Medical ScienceOpen Access

QTc longer than 0.508 sec was a cut-off value for major cardiac events (sensitivity 0.806, specificity 0.600), and beta-blocker therapy significantly reduced the longest QTc interval (0.536 ± 0.079 sec vs 0.492 ± 0.061 sec, p=0.007).

View Full Paper

Ask AI

Bookmark

Population

81 Korean patients, comprising 62 probands and 19 family members with LQT gene mutation. Proband median age…

Design

Cohort

Follow-up

mean 4.2 ± 3.5 years

Authors

YLYun‐Sik LeePusan National University BKBo-Sang KwonSeoul National University GKGi Beom KimSeoul National University

Discussion

Member takes

Overview

May aid LQTS risk stratification in Koreans; leaves open beta-blocker outcome benefit pending prospective trials.

Key Points

Investigate the clinical features, genetic profiles, and treatment responses in Korean patients diagnosed with congenital long QT syndrome and their family members.
Evaluated 62 probands with long QT syndrome (QTc ≥ 0.47 sec) and 19 family members at a single center in Korea.
Performed genetic screening in 61 individuals and analyzed clinical presentations, ECG variables, and responses to beta-blockers and implantable cardioverter defibrillators.
Identified causative genetic mutations in 40 of 61 tested patients (KCNQ1 in 19, KCNH2 in 10, SCN5A in 7, KCNJ2 in 3, CACNA1C in 1), showing 57.9% penetrance in families.
QTc was significantly prolonged in patients with syncope (P=0.001), ventricular tachycardia (P=0.017), and aborted cardiac arrest (P=0.010), with QTc > 0.508 sec predicting major cardiac events (sensitivity 0.806, specificity 0.600).
Beta-blocker therapy produced a significant reduction in QTc intervals (P=0.007), while implantable cardioverter defibrillators were required in 6 high-risk patients.

Structured PICO

Population

81 Korean patients, comprising 62 probands (QTc ≥ 0.47 sec or positive genetic test for LQTS) and 19 family members with LQT gene mutation. Proband median age 15.8 years, 54.8% female.

Intervention

Beta-blocker therapy (prescribed in 66.1% of probands and 31.6% of family members) and implantable cardioverter-defibrillator (ICD) implantation (in 6 patients).

Outcome

Major cardiac events (composite of syncope, ventricular tachycardia, and aborted cardiac arrest) and reduction in longest QTc interval.composite

In a Korean cohort with Long QT Syndrome, a QTc > 0.508 sec was predictive of major cardiac events, and beta-blocker therapy effectively reduced QTc intervals.

Limitations

small sample size

Cite This Study

Lee et al. (2013) studied this question.

synapsesocial.com/papers/6a1e42b040bc8a3dd768aff0 https://doi.org/10.3346/jkms.2013.28.10.1454

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark