What is the clinical evidence from this study?

Study design: Observational. Population: Congenital long-QT syndrome (n=58). Primary outcome: Clinical presentation and genotype-phenotype correlation.

What does this research mean for the field?

Perinatal and infantile long-QT syndrome with life-threatening arrhythmias mostly involves LQT2, LQT3, or ungenotyped patients, and aggressive intervention effectively suppresses arrhythmias and limits mortality. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To characterize the clinical presentation, genotype-phenotype correlations, and outcomes of congenital long-QT syndrome diagnosed during fetal, neonatal, and infantile periods.

December 9, 2009Circulation Arrhythmia and ElectrophysiologyOpen Access

Clinical Characteristics and Genetic Background of Congenital Long-QT Syndrome Diagnosed in Fetal, Neonatal, and Infantile Life

View Full Paper

Ask AI

Bookmark

Key result

Perinatal and infantile long-QT syndrome with life-threatening arrhythmias mostly involved LQT2, LQT3, or ungenotyped patients, while aggressive intervention limited mortality to 7 deaths.

Why the study?

What are the clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life?

Population

58 cases of congenital long-QT syndrome diagnosed during fetal life, the neonatal period, and beyond the…

Design

Cohort

Authors

HHHitoshi HorigomeUniversity of Tsukuba MNMasami NagashimaKanazawa University NSNaokata SumitomoPediatric Cardiology

Discussion

Member takes

Implication

Supports genotype-guided evaluation in perinatal LQTS; leaves open optimal intervention strategies pending prospective validation.

Key Points

To characterize the clinical presentation, genotype-phenotype correlations, and outcomes of congenital long-QT syndrome diagnosed during fetal, neonatal, and infantile periods.
Conducted a nationwide questionnaire survey across 33 institutions, collecting data on 58 patients diagnosed or suspected during fetal life (n=18), the neonatal period (n=31), or beyond neonatal age (n=9).
Assessed presenting symptoms, genetic testing data (available in 41 cases), therapeutic interventions, and clinical outcomes.
Genetic testing identified mutations in 29 of 41 evaluated patients (LQT1 n=11, LQT2 n=11, LQT3 n=6, LQT8 n=1).
Ventricular tachycardia, torsades de pointes (n=27), and atrioventricular block (n=23) presented almost exclusively in patients with LQT2, LQT3, LQT8, or mutation-negative disease, whereas LQT1 presented primarily with sinus bradycardia (n=37) or family history (n=21).
Aborted cardiac arrest or sudden death occurred in 14 cases, but aggressive therapy with beta-blockers, mexiletine, and pacemakers or defibrillators effectively controlled arrhythmias, resulting in only 7 total deaths.

Study Design

Type

Observational (n=58)

Multicenter

Yes

Structured PICO

What are the clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life?

Population

58 cases of congenital long-QT syndrome (LQTS) diagnosed during fetal life (n=18), the neonatal period (n=31), and beyond the neonatal period (n=9).

Outcome

Clinical presentation and genotype-phenotype correlation

Life-threatening arrhythmias in perinatal LQTS are predominantly associated with LQT2, LQT3, or unknown mutations, but aggressive intervention effectively suppresses arrhythmias.

Cite This Study

Horigome et al. (2009) conducted an observational in Congenital long-QT syndrome (n=58). Perinatal and infantile long-QT syndrome with life-threatening arrhythmias mostly involved LQT2, LQT3, or ungenotyped patients, while aggressive intervention limited mortality to 7 deaths.

synapsesocial.com/papers/6a178bd65fdf2a7b88aa1f96 https://doi.org/10.1161/circep.109.882159

View Full Paper

Ask AI

Bookmark

Clinical Characteristics and Genetic Background of Congenital Long-QT Syndrome Diagnosed in Fetal, Neonatal, and Infantile Life

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Clinical Characteristics and Genetic Background of Congenital Long-QT Syndrome Diagnosed in Fetal, Neonatal, and Infantile Life

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Also Consider

Also Consider