Tentative Screening Criteria for Short QT Interval in Children and Adolescents

Hazeki, Daisuke; Ninomiya, Yumiko; Ueno, Koichi; Yoshinaga, Masao

doi:10.1253/circj.cj-18-0213

Cited by 5 publications

(3 citation statements)

References 25 publications

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“…Subsequent cut-offs were established for males: 1st graders: 325 ms, 7th graders: 315 ms, 10th graders: 305. This was also performed for 320 ms females in the 1st, 7th, and 10th grades [94]. It is worth emphasizing that implantable loop recorders can improve risk assessment of SQTS complications in young patients [95].…”

Section: Diagnosismentioning

confidence: 99%

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

Badura,

Buławska,

Dąbek

et al. 2024

IJMS

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Primary electrical heart diseases, often considered channelopathies, are inherited genetic abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias leading to sudden cardiac death (SCD). Approximately 54% of sudden, unexpected deaths in individuals under the age of 35 do not exhibit signs of structural heart disease during autopsy, suggesting the potential significance of channelopathies in this group of age. Channelopathies constitute a highly heterogenous group comprising various diseases such as long QT syndrome (LQTS), short QT syndrome (SQTS), idiopathic ventricular fibrillation (IVF), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and early repolarization syndromes (ERS). Although new advances in the diagnostic process of channelopathies have been made, the link between a disease and sudden cardiac death remains not fully explained. Evolving data in electrophysiology and genetic testing suggest previously described diseases as complex with multiple underlying genes and a high variety of factors associated with SCD in channelopathies. This review summarizes available, well-established information about channelopathy pathogenesis, genetic basics, and molecular aspects relative to principles of the pathophysiology of arrhythmia. In addition, general information about diagnostic approaches and management is presented. Analyzing principles of channelopathies and their underlying causes improves the understanding of genetic and molecular basics that may assist general research and improve SCD prevention.

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Section: Diagnosismentioning

confidence: 99%

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

Badura,

Buławska,

Dąbek

et al. 2024

IJMS

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“…In addition, a stress test could be useful and a slope of the QT/HR ratio of less than −0.9 ms/beat/min could help distinguish affected subjects from healthy individuals [12]. Some studies support that QTc values should be adjusted in each population according to factors such as sex and age, and assessed in conjunction with other ECG criteria [13,14]. For instance, a recent study in children and young adults demonstrated that a QTcB <316 ms, J-Tpeak cB < 181 ms (corrected by using Bazett's formula) and the presence of early repolarization (ER) could be indicative of SQTS in patients younger than 20 years of age [15].…”

Section: Diagnosismentioning

confidence: 99%

Short QT Syndrome: Update on Genetic Basis

Martínez-Barrios¹,

Cruzalegui²,

César³

et al. 2023

Rare Diseases - Recent Advances

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Short QT syndrome (SQTS) is an extremely rare inherited arrhythmogenic entity. Nowadays, less than 200 families affected worldwide have been reported. This syndrome is characterized by the presence of a short QT interval leading to malignant ventricular tachyarrhythmias, syncope and sudden cardiac death. It is one of the most lethal heart diseases in children and young adults. Both incomplete penetrance and variable expressivity are hallmarks of this entity, making it difficult to diagnose and manage. Currently, rare variants in nine genes have been associated with SQTS (CACNA1C, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC22A5, SLC4A3 and SCN5A). However, only pathogenic variants in four genes (KCNH2, KCNQ1, KCNJ2 and SLC4A3) have been found to definitively cause SQTS. The remaining genes lack a clear association with the disease, making clinical interpretation of the variants challenging. The diagnostic yield of genetic tests is currently less than 30%, leaving most families clinically diagnosed with SQTS without a conclusive genetic diagnosis. We reviewed and updated the main genetic features of SQTS, as well as recent evidence on increasingly targeted treatment.

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“…Some researchers support the screening of SQTS in the pediatric population, given its high lethality and the benefits of early diagnosis in the prevention of SCD. These studies have shown that the diagnostic criteria for QTc should be adjusted in each population based on factors including sex and age, to avoid false positives [ 196 , 197 , 198 , 199 ].…”

Section: Short Qt Syndromementioning

confidence: 99%

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population

et al. 2022

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Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive cause in 40–50% of cases. In such cases, a diagnosis of sudden arrhythmic death syndrome is suggested as the main potential cause of death. Molecular autopsy identifies nearly 30% of cases under 16 years of age carrying a pathogenic/potentially pathogenic alteration in genes associated with any inherited arrhythmogenic disease. In the last few years, despite the increasing rate of post-mortem genetic diagnosis, many families still remain without a conclusive genetic cause of the unexpected death. Current challenges in genetic diagnosis are the establishment of a correct genotype–phenotype association between genes and inherited arrhythmogenic disease, as well as the classification of variants of uncertain significance. In this review, we provide an update on the state of the art in the genetic diagnosis of inherited arrhythmogenic disease in the pediatric population. We focus on emerging publications on gene curation for genotype–phenotype associations, cases of genetic overlap and advances in the classification of variants of uncertain significance. Our goal is to facilitate the translation of genetic diagnosis to the clinical area, helping risk stratification, treatment and the genetic counselling of families.

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Tentative Screening Criteria for Short QT Interval in Children and Adolescents

Cited by 5 publications

References 25 publications

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

Short QT Syndrome: Update on Genetic Basis

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population

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