沉默的耳朵，衰竭的心脏：一例LARS2相关Perrault综合征4型（PRLTS4）婴儿的扩张型心肌病
Silent Ears, Failing Heart: Dilated Cardiomyopathy in an Infant With LARS2-Related Perrault Syndrome Type 4 (PRLTS4).
文献信息
| PMID | 42913690 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Faten Ahmad Alkateb |
| 作者单位 | Department of General Paediatrics, King Fahad Medical City, Riyadh, Saudi Arabia. |
| 期刊 | Clinical genetics |
| SCI 分区 | Q3 |
| IF | 2.9 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 耳科 |
中文摘要
我们报告一名19个月大的女童，经分子学确诊为Perrault综合征4型（PRLTS4），由纯合LARS2变异（c.457A>C，p.Asn153His）所致；她在2个月龄时出现扩张型心肌病（射血分数21%），而新生儿超声心动图正常，同时伴有双侧极重度感音神经性听力损失和全面发育迟缓。未发现第二个致病性心脏变异。据我们所知，这是首例在分子学确诊的LARS2相关PRLTS4中报告扩张型心肌病的病例，扩展了该疾病已知的表型谱，并支持对受累婴儿进行心脏监测。
英文摘要
We report a 19-month-old girl with molecularly confirmed Perrault syndrome type 4 (PRLTS4), due to a homozygous LARS2 variant (c.457A>C, p.Asn153His), who developed dilated cardiomyopathy (ejection fraction 21%) at 2 months of age despite a normal neonatal echocardiogram, alongside bilateral profound sensorineural hearing loss and global developmental delay. No second causative cardiac variant was identified. To our knowledge, this is the first reported case of dilated cardiomyopathy in molecularly confirmed LARS2-related PRLTS4, expanding the recognised phenotypic spectrum of this disorder and supporting cardiac surveillance in affected infants.