A novel de novo TBX20 variant in a 6-year-old Chinese girl with left ventricular noncompaction: a case report.

ABSTRACT: Left ventricular noncompaction (LVNC) is a particular type of cardiomyopathy with an excessively prominent trabecular meshwork and deep intertrabecular recesses in the left ventricle (LV). The clinical manifestation of LVNC is highly variable, ranging from no symptom to congestive heart failure, arrhythmia, thrombosis, and potentially sudden cardiac death. Approximately half of LVNC cases are hereditary. TBX20 is expressed in human embryonic and vertebrate hearts. In this article, we report on a case of pediatric LVNC with a novel de novo TBX20 [c.859C>T, p.(Arg287Trp)] gene variant, which appears to be pathogenic and had not been previously reported in LVNC. The 6-year-old girl was admitted to our hospital for unexplained syncope. 2D-echocardiography revealed a dilate

SUBMITTER: Zuo MY 

PROVIDER: S-EPMC8905101 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature