Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.

ABSTRACT:

Background

Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome) is a severe multi-systemic developmental disorder, caused by variants in the SON gene. A patient diagnosed with ZTTK syndrome who carried a de novo SON mutation and exhibited recurrent myocardial injury was described in this case.

Case presentation

A 7-year-old girl was admitted to the Cardiology Department of Beijing Children's Hospital in November 2019 due to myocardial injury following respiratory infection. She displayed elevated myocardial enzymes and severe T-wave changes on electrocardiogram. Over the past three years, she had experienced myocardial injury on three occasions. Additionally, she exhibited intellectual disability, congenital amblyopia, and dysmorphic facial features. Genetic analysis revealed

SUBMITTER: Na J 

PROVIDER: S-EPMC10985872 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature