The infero-apical left ventricular aneurysm and long QT syndrome caused by mutation delKKP 1504–1506 in SCN5A gene
4 affiliations
- 1Ultrasound Department, Dongguan Hospital of Guangzhou University of Chinese Medicine
- 2Electrocardiographic Department, Dongguan Hospital of Guangzhou University of Chinese Medicine
- 3Department of Cardiology, Foshan Fosun Chancheng Hospital
- 4Department of Cardiology, Jinshazhou Hospital of Guangzhou University of Chinese Medicine
Abstract
Background Long QT syndrome (LQTS) is considered a primary cardiac ion channelopathy. Several studies have shown that myocardial functional alterations may occur in patients with LQTS type 3 (LQT3). However, it is currently unclear whether there is a specific relationship between phenotype and genotype. The aim of this study is to provide additional information on the phenotype and genotype of LQT3 caused by a novel delKKP 1504–1506 mutation in a Chinese family. Case presentation The family came to our attention because of a sustained corrected QT interval (QTc) prolongation in a 14-year-old girl who had experienced a loss of consciousness with Mobitz type II atrioventricular block one year earlier. Three family members carrying the delKKP 1504–1506 mutation demonstrated a combination of infero-apical left ventricular aneurysms and prolonged QTc, and two members showed J-waves in the right precordial lead V2. Conclusions This case suggests that the delKKP 1504–1506 mutation in SCN5A may not only lead to impaired impulse propagation in the conduction system and a prolonged QTc, but may also be associated with infero-apical ventricular aneurysms and J-wave syndromes, possibly corresponding to regional myocardial fibrosis.
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BibTeX
@article{lu2026inferoapical,
title = {{The infero-apical left ventricular aneurysm and long QT syndrome caused by mutation delKKP 1504–1506 in SCN5A gene}},
author = {Zhijuan Lu and Jiadong Lin and Yi Chen and Xiuli Zhou and Liping Lin and Xiaocong Zhang and Qiang Wang and Xinsheng Huang},
journal = {BMC Medical Genomics},
year = {2026},
month = jul,
doi = {10.1186/s12920-026-02428-0},
url = {https://doi.org/10.1186/s12920-026-02428-0},
note = {CC BY},
}
RIS
TY - JOUR
TI - The infero-apical left ventricular aneurysm and long QT syndrome caused by mutation delKKP 1504–1506 in SCN5A gene
AU - Zhijuan Lu
AU - Jiadong Lin
AU - Yi Chen
AU - Xiuli Zhou
AU - Liping Lin
AU - Xiaocong Zhang
AU - Qiang Wang
AU - Xinsheng Huang
PY - 2026
DA - 2026/07/01
JO - BMC Medical Genomics
DO - 10.1186/s12920-026-02428-0
UR - https://doi.org/10.1186/s12920-026-02428-0
AB - Background Long QT syndrome (LQTS) is considered a primary cardiac ion channelopathy. Several studies have shown that myocardial functional alterations may occur in patients with LQTS type 3 (LQT3). However, it is currently unclear whether there is a specific relationship between phenotype and genotype. The aim of this study is to provide additional information on the phenotype and genotype of LQT3 caused by a novel delKKP 1504–1506 mutation in a Chinese family. Case presentation The family came to our attention because of a sustained corrected QT interval (QTc) prolongation in a 14-year-old girl who had experienced a loss of consciousness with Mobitz type II atrioventricular block one year earlier. Three family members carrying the delKKP 1504–1506 mutation demonstrated a combination of infero-apical left ventricular aneurysms and prolonged QTc, and two members showed J-waves in the right precordial lead V2. Conclusions This case suggests that the delKKP 1504–1506 mutation in SCN5A may not only lead to impaired impulse propagation in the conduction system and a prolonged QTc, but may also be associated with infero-apical ventricular aneurysms and J-wave syndromes, possibly corresponding to regional myocardial fibrosis.
SN - 1755-8794
ER -