Why the study?
To evaluate the genotype-phenotype relationships in patients referred with suspected arrhythmia syndrome.
Next-generation sequencing identified potentially pathogenic single nucleotide variants in a majority of patients with suspected arrhythmia syndrome and their relatives, highlighting the importance of genetic screening and family history.
Answers are grounded in this paper and cite their sources.
May support cascade screening in LQTS families; hypothesis-generating and should not yet change practice.
Introduction: Long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram. It increases the risk of ventricular arrhythmias, which can cause syncope or sudden cardiac death. In this study, we study the genotype-phenotype relationships of patients referred to us with suspected arrhythmia syndrome. Methods: Seventeen cases and their twenty relatives were evaluated. Next-generation sequencing analysis was performed for 17 LQTS-related genes. Results: We detected seventeen single nucleotide variants (SNVs) with potential pathogenic significance in 26 of the 36 subjects analyzed. KCNH2 c.172G>A, KCNQ1 c.1768G>A, ANK2 c.4666A>T, c.1484_1485delCT, KCNH2 c.1888G>A were reported as pathogenic or likely pathogenic in HGMD variant classification database. Conclusion: Current study pointed out that early diagnosis can be life-saving for patients and their families by taking family history and detailed examination. Also, we highlight the clinical heterogeneity of arrhythmia syndrome through a patient with a dual phenotype.
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Bora et al. (2023) studied this question.
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