期刊
JOURNAL OF CLINICAL MEDICINE
卷 11, 期 11, 页码 -出版社
MDPI
DOI: 10.3390/jcm11113171
关键词
left ventricular noncompaction; atrial septal defect; conduction disorder; syncope
资金
- Ministry of Education, Culture, Sports, Science and Technology in Japan [22K07932]
This study reported a pediatric case of a 12-year-old girl with congenital heart disease and left ventricular noncompaction (LVNC) who had a novel variant in the NKX2-5 gene. The findings suggest that NKX2-5 variants should be considered in cases with LVNC, congenital heart disease, arrhythmia, and syncope to prevent sudden cardiac death.
The NKX2-5 gene encodes a transcription factor and is actively involved in heart formation and development. A pediatric case with its variant and left ventricular noncompaction (LVNC) has not been reported. A 12-year-old girl with a history of a surgery for atrial septal detect was referred because of syncope during exercise. The electrocardiogram showed atrioventricular block, and the echocardiogram revealed prominent trabeculations in the left ventricular wall, suggesting LVNC. A novel heterozygous variant in the NKX2-5 gene (NM_004387.1: c.255_256delCT, p.Phe86fs) was identified. NKX2-5 variants should be considered in cases with LVNC, congenital heart disease, arrhythmia, and syncope to prevent sudden cardiac death.
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