Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.

Autor: Krych M; Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland. Electronic address: krych.michalina@gmail.com., Biernacka EK; Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland., Ponińska J; Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland., Kukla P; Department of Cardiology and Internal Medicine, Specialistic Hospital, Gorlice, Poland., Filipecki A; First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland., Gajda R; Medical Centre Gajda-Med, Pułtusk, Poland., Hasdemir C; Department of Cardiology, Ege University School of Medicine, Izmir, Turkey., Antzelevitch C; Lankenau Institute for Medical Research, Wynnewood, PA, USA., Kosiec A; Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland., Szperl M; Department of Molecular Biology, Institute of Cardiology, Warsaw, Poland., Płoski R; Department of Medical Genetics, Warsaw Medical University, Poland., Trusz-Gluza M; First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland., Mizia-Stec K; First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland., Hoffman P; Department of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland.
Jazyk: angličtina
Zdroj: Journal of cardiology [J Cardiol] 2017 Nov; Vol. 70 (5), pp. 504-510. Date of Electronic Publication: 2017 Mar 21.
DOI: 10.1016/j.jjcc.2017.01.009
Abstrakt: Background: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS.
Methods: This study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0±17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families. Predictors of arrhythmias [premature ventricular beats>2000/24h, biventricular and polymorphic ventricular tachycardia (VT)], syncope, and/or cardiac arrest (CA) were evaluated.
Results: In KCNJ2 mutation carriers vs non-carriers (n=25 vs n=19) significant differences were observed in U-wave manifestations in V2-V4, T peak -T end duration, QTUc duration (p<0.0001), dysmorphic features, and neurological symptoms. Compared to asymptomatic carriers (n=9), in those with arrhythmias and/or syncope and/or CA (n=16) micrognathia (p=0.004), periodic paralysis (p=0.019), palpitation (p=0.005), U-wave n V2-V4 (p=0.049) were more frequent; QTU (p=0.045) and T peak -T end (p=0.014) were also longer (n=9). In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently. T peak -T end duration was longer (p=0.007) and the percentage of patients with premature ventricular contraction >2000/24h was higher (p=0.005).
Conclusion: A higher risk of arrhythmia, syncope, and/or CA is associated with the presence of micrognathia, periodic paralysis, and prolonged T peak -T end time. Our findings suggest that K897T may contribute to the occurrence of syncope.
(Copyright © 2017 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: