Ventricular dysfunction in a family with long QT syndrome type 3

Autor: Arthur A.M. Wilde, Silvia Bugatti, Maarten P. van den Berg, Adriaan A. Voors, Hans L. Hillege, Yoran M. Hummel
Přispěvatelé: Ethical, Legal, Social Issues in Genetics (ELSI), Life Course Epidemiology (LCE), Cardiovascular Centre (CVC), Groningen Kidney Center (GKC), Amsterdam Cardiovascular Sciences, Cardiology
Rok vydání: 2013
Předmět:
Male
Heredity
Ventricular Dysfunction
Right
Persistent inward current
Ventricular Function
Left
NAV1.5 Voltage-Gated Sodium Channel
CONDUCTION DISORDER
Ventricular Dysfunction
Left
Diastole
Risk Factors
CONTRACTION
MUTATION
Brugada syndrome
Sodium channel
Dilated cardiomyopathy
DIASTOLIC DYSFUNCTION
Pedigree
Phenotype
Echocardiography
Cardiology
HEART-FAILURE
Female
Long QT syndrome
Cardiology and Cardiovascular Medicine
Adult
medicine.medical_specialty
Systole
BRUGADA-SYNDROME
LATE SODIUM CURRENT
QRS complex
Physiology (medical)
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
cardiovascular diseases
Speckle tracking
Post-systolic shortening
business.industry
DILATED CARDIOMYOPATHY
medicine.disease
Echocardiography
Doppler
Color
Endocrinology
Case-Control Studies
Heart failure
ATRIAL-FIBRILLATION
Calcium ion homeostasis
Ventricular Function
Right
business
SCN5a
Zdroj: Europace, 15(10), 1516-1521. Oxford University Press
Europace : European pacing, arrhythmias, and cardiac electrophysiology, 15(10), 1516-1521. Oxford University Press
ISSN: 1532-2092
1099-5129
DOI: 10.1093/europace/eut101
Popis: Long QT syndrome (LQTS) type 3 is characterized by prolonged ventricular repolarization due to persistent sodium inward current secondary to a mutation inSCN5a, the gene encoding for thea-subunit of the sodium channel. We specu- lated that by disrupting calcium homeostasis the persistent inward sodium current in patients with LQTS type 3 might cause derangement of diastolic function. We aimed to identify functional myocardial alterations in a family with a sodium channelopathy with a phenotype of both LQTS type 3 and Brugada syndrome. Methods and results The study group comprised 12SCN5a mutation carriers (SCN5a-1795insD), 9 females and 3 males, mean age 35.7+ 7.3 years, and 12 healthy controls. In addition to conventional echocardiographic measurements, two-dimensional speckle tracking was performed to assess tissue properties. Mean ewas lower in the patients compared with the controls (5.6+ 0.75 vs. 6.7+ 0.98 cm/s, P ¼ 0.006). Onset QRS to maximum swas longer in the patients than in the controls (0.20+ 0.04 vs. 0.15+ 0.05 s, P ¼ 0.007), and the number of segments with post-systolic shortening was higher (6.58+ 2.54 vs. 1.83+ 1.64, P , 0.001). Conclusion Patients in this family with LQTS type 3 showed post-systolic shortening, as well as both left and right ventricular diastolic dysfunction. The underlying mechanism remains to be elucidated but the persistent sodium inward current leading to calcium overload might play a role, in particular regarding diastolic dysfunction.
Databáze: OpenAIRE
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