Department of Cardiology, Beijing Children's Hospital Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
BMC Pediatr. 2024 Apr 2;24(1):232. doi: 10.1186/s12887-024-04703-4.
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.
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 a de novo heterozygous mutation c.3852_3856delGGTAT in the SON gene, which was confirmed by Sanger sequencing of her parents. She received anti-infection treatment and was administered metoprolol orally. Her condition was stable at the time of discharge. Over a 42-month follow-up period at the outpatient clinic, she complained intermittent fatigue and palpitation.
The identified SON mutation, which plays a crucial role in heart development and mitochondrial function, may be associated with an increased susceptibility to myocardial injury or cardiomyopathy. This case report contributes novel insights into this rare condition and suggests the expansion of the ZTTK syndrome phenotype.
Zhu-Tokita-Takenouchi-Kim 综合征（ZTTK 综合征）是一种严重的多系统发育障碍，由 SON 基因变异引起。本病例报告了一例携带 SON 突变且反复出现心肌损伤的 ZTTK 综合征患者。
一名 7 岁女孩于 2019 年 11 月因呼吸道感染后继发心肌损伤而入住北京儿童医院心内科。她的心肌酶升高，心电图有严重的 T 波改变。在过去的三年中，她曾发生过 3 次心肌损伤。此外，她还表现出智力障碍、先天性弱视和面部畸形。基因分析显示，SON 基因存在一个杂合突变 c.3852_3856delGGTAT，经父母的 Sanger 测序证实。她接受了抗感染治疗，并口服美托洛尔。出院时病情稳定。在门诊随访的 42 个月期间，她间歇性疲劳和心悸。
该 SON 突变对心脏发育和线粒体功能至关重要，可能与心肌损伤或心肌病的易感性增加有关。本病例报告为这种罕见疾病提供了新的见解，并提示 ZTTK 综合征表型的扩展。
