Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The QTc interval will be measured pre- and post-menarche and during three
phases of the menstrual cycle, with concomitant estradiol and pregnanediol
fluctuations.
Secondary outcome
NA
Background summary
Congenital long QT syndrome (LQTS) is a potentially lethal inherited disorder
defined by the prolongation of the QT interval corrected for heart rate (QTc)
on the electrocardiogram (ECG). If untreated, polymorphic ventricular
tachycardia (Torsades de Pointes, TdP) may occur, leading to syncope or even
sudden death. Children and adolescents constitute an especially important risk
group. The QTc interval varies with age and gender in patients with LQTS,
depending on the different genotypes. These changes are associated with
differences in the clinical course of the disease. It has been proposed that
sex hormones may play an important role in the complex relationship between
genotype, age, gender and QTc interval. Hence, studies have been performed to
examine the influences of pregnancy and menopause in women with LQTS.
Currently, however, there is no data regarding the influence of menarche and
menstruation cycle on the QTc interval in the high risk group of teenagers and
young women with LQTS.
Study objective
Evaluate the effect of menarche and menstrual cycle on the QTc interval among
girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type
2 (LQT2).
Study design
The study consists of both a retrospective- and a prospective observational
design.
Study burden and risks
In all study patients ECG recordings and urine samples will be obtained at
three time intervals during one menstrual cycle. In addition, the girls will be
asked to identify ovulation using urinary ovulation predictors. This study does
not have an advantage for the participating patient. However, acquiring more
insight in the role of the menarche and menstruation cycle may improve the risk
stratification for life-threatening arrhythmias and positively influence the
medical management of these same patients.
Meibergdreef 9
Amsterdam 1100 DD
NL
Meibergdreef 9
Amsterdam 1100 DD
NL
Listed location countries
Age
Inclusion criteria
All girls must meet the following inclusion criteria
* Post-menarcheal
* Genetically confirmed LQT1 and LQT2
* Between the age of 12 and 21 years
Exclusion criteria
* Premenarcheal
* Pregnancy
* The use of hormonal contraceptive therapy (i.e. combined estrogen-
progestin oral contraceptives, intrauterine contraception, contraceptive vaginal ring, etonogestrel contraceptive implant, injectable contraceptives or progestin pills)
* Body mass index (BMI) for age greater or less than the 95th percentile
* History of polycystic ovary syndrome (PCOS) or anorexia nervosa
* Double mutation carrier or compound heterozygote
* Mutations of unknown pathology
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL54301.018.15 |