Abstract
QT prolongation represents clinically significant changes in the ECG, which can
compromise patient health by leading to ventricular rhythm disturbances such as
torsades de pointes, ventricular arrhythmia, and sudden cardiac death. It is known that
QT prolongation can range from asymptomatic throughout life to fatal outcomes.
QT prolongation can be categorized into congenital and acquired syndromes.
Acquired long QT syndrome arises from various causes, including drug side effects,
electrolyte disturbances, and metabolic changes. Congenital long QT syndrome is a
channelopathy caused by various mutations; to date, 17 mutations of different cardiac
channel coding genes have been identified.
Our center is the only specialized pediatric cardiology clinic in Latvia where children
with congenital long QT syndrome are diagnosed and treated. We present our center’s
experience with this rare disease.
Methods
Patient clinical cases with genetically and clinically diagnosed congenital LQTS were
selected over the period from 2010 to 2024. Clinical data, including demographics,
family history, laboratory tests, ECG measurements, and echocardiography, were
obtained, processed, and analyzed.
Results
Over the 15-year period, 29 pediatric patients (12 girls [41.4%] and 17 boys [58.6%])
with congenital long QT syndrome were diagnosed. The median age at diagnosis was
12 years. LQTS types 1-3 were most frequent in our case series, but patients with
LQTS types 5 and 6 were also diagnosed. QT prolongation varied from 460 to 600
ms, with a median value of 499 ms. Clinical symptoms were present in 41.4% (n=12)
of patients, with 13.8% (n=4) presenting after ventricular arrhythmia, sudden cardiac
death, and resuscitation. Family history of sudden cardiac death, cardiac arrhythmia,
or cardiomyopathy was positive in 55.2% (n=16) of cases.
Conclusion
Congenital LQTS is a rare disease with a variable phenotype. Most diagnosed patients
have a positive family history of cardiac events. The number of diagnosed patients
over the 15-year period is lower than expected based on known incidence rates,
however, very rare mutations are present in our population
compromise patient health by leading to ventricular rhythm disturbances such as
torsades de pointes, ventricular arrhythmia, and sudden cardiac death. It is known that
QT prolongation can range from asymptomatic throughout life to fatal outcomes.
QT prolongation can be categorized into congenital and acquired syndromes.
Acquired long QT syndrome arises from various causes, including drug side effects,
electrolyte disturbances, and metabolic changes. Congenital long QT syndrome is a
channelopathy caused by various mutations; to date, 17 mutations of different cardiac
channel coding genes have been identified.
Our center is the only specialized pediatric cardiology clinic in Latvia where children
with congenital long QT syndrome are diagnosed and treated. We present our center’s
experience with this rare disease.
Methods
Patient clinical cases with genetically and clinically diagnosed congenital LQTS were
selected over the period from 2010 to 2024. Clinical data, including demographics,
family history, laboratory tests, ECG measurements, and echocardiography, were
obtained, processed, and analyzed.
Results
Over the 15-year period, 29 pediatric patients (12 girls [41.4%] and 17 boys [58.6%])
with congenital long QT syndrome were diagnosed. The median age at diagnosis was
12 years. LQTS types 1-3 were most frequent in our case series, but patients with
LQTS types 5 and 6 were also diagnosed. QT prolongation varied from 460 to 600
ms, with a median value of 499 ms. Clinical symptoms were present in 41.4% (n=12)
of patients, with 13.8% (n=4) presenting after ventricular arrhythmia, sudden cardiac
death, and resuscitation. Family history of sudden cardiac death, cardiac arrhythmia,
or cardiomyopathy was positive in 55.2% (n=16) of cases.
Conclusion
Congenital LQTS is a rare disease with a variable phenotype. Most diagnosed patients
have a positive family history of cardiac events. The number of diagnosed patients
over the 15-year period is lower than expected based on known incidence rates,
however, very rare mutations are present in our population
| Original language | English |
|---|---|
| Pages | 71 |
| Number of pages | 1 |
| Publication status | Published - 2024 |
| Event | PediRythm XI : World congress of PEDIATRIC & CONGENITAL HEART RHYTHM DISORDERS - Centro Congressi Fontana di Trevi, Rome, Italy Duration: 19 Sept 2024 → 21 Sept 2024 Conference number: 11 https://pedirhythmxi.org |
Congress
| Congress | PediRythm XI |
|---|---|
| Country/Territory | Italy |
| City | Rome |
| Period | 19/09/24 → 21/09/24 |
| Internet address |
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)