High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8

Circ J. 2020 Mar 25;84(4):559-568. doi: 10.1253/circj.CJ-19-1101. Epub 2020 Mar 12.


Background: Long QT syndrome type 8 (LQT8) is a rare genotype of long QT syndrome. Late-appearing T-waves (LaT) are often documented in patients with LQT8, as in long QT syndrome type 3 (LQT3); however, the frequency of LaT and its relevance to the clinical severity of LQT8 remains unclear. This study investigated T-wave morphology (TWM) in LQT3 and LQT8 patients and compared the phenotypes of different TWMs.Methods and Results:TWMs were classified into 3 types: early onset T-waves (EoT), LaT, and bifid T-waves (biT). Electrocardiogram (ECG) measurements, symptoms, and topology were compared among TWM types. The study cohort comprised 25 patients with LQT8 (14 mutations) and 25 patients with LQT3 (14 mutations). LaT was detected in 17 (68%) and 13 (52%) LQT8 and LQT3 patients, respectively. There were no significant differences in ECG measurements or the severity of symptoms between patients with LaT and those with other TWMs in either the LQT8 or LQT3 group. However, only patients with LaT experienced cardiopulmonary arrest. Compared with the LQT3 group, in the LQT8 group there was a tendency for mutations in patients with LaT to be located in domain-linking regions.

Conclusions: In this study, two-thirds of patients with LQT8 exhibited LaT on ECG, and nearly one-third of those experienced cardiopulmonary arrest. Further investigations are warranted to differentiate between LQT3 and LQT8 in patients exhibiting LaT to optimize therapy.

Keywords: Genetics; LQT8; Late-appearing T-wave; Long QT syndrome; T-wave morphology.

Publication types

  • Multicenter Study

MeSH terms

  • Action Potentials*
  • Adolescent
  • Adult
  • Autistic Disorder / complications
  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics
  • Autistic Disorder / physiopathology
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Electrocardiography*
  • Female
  • Heart Arrest / etiology
  • Heart Arrest / physiopathology
  • Heart Conduction System / physiopathology*
  • Heart Rate*
  • Humans
  • Infant
  • Infant, Newborn
  • Japan
  • Long QT Syndrome / complications
  • Long QT Syndrome / diagnosis*
  • Long QT Syndrome / genetics
  • Long QT Syndrome / physiopathology
  • Male
  • Phenotype
  • Predictive Value of Tests
  • Severity of Illness Index
  • Syndactyly / complications
  • Syndactyly / diagnosis*
  • Syndactyly / genetics
  • Syndactyly / physiopathology
  • Time Factors
  • Young Adult

Supplementary concepts

  • Long Qt Syndrome 3
  • Timothy syndrome