Congenital Heart Disease Center, Wuhan Asia Heart Hospital, 753 Jinghan Road, Wuhan, 430022, China.
BMC Pediatr. 2023 Aug 28;23(1):429. doi: 10.1186/s12887-023-04273-x.
Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KMT2D mutations are associated with pediatric pulmonary disorders. However, the relationship between the clinical courses of PH and the KMT2D mutation is reported in extremely few cases. Therefore, in this paper, a case was presented and previous literature was reviewed for better understanding of the correlation between pediatric PH and KMT2D mutations.
A 3-year-old girl was transferred to our center for severe cough, shortness of breath, fatigue and fever. Physical examination revealed facial deformities and growth retardation. Echocardiography showed a small atrial septal defect (ASD), and right heart catheterization indicated a significant increase in pulmonary vascular pressure and resistance. The genetic test suggested that she had a KMT2D gene mutation. The patient was finally diagnosed with KS. She was given targeted drugs to reduce pulmonary vascular pressure, but the effect was unsatisfactory.
KS can be complicated with multiple organ malformations and dysfunction. With the progress of next generation sequencing, an increasing number of new phenotypes related to KMT2D mutations have been reported. A bold hypothesis is proposed in this article, that is, PH may be a new phenotype associated with KMT2D mutations. It is suggested that KS and PH should be differentiated from each other to avoid delayed diagnosis and treatment in clinical practice. There is no specific drug for KS treatment. The prognosis of children with inherited PH is usually poor, and lung transplantation may increase their survival rates.
小儿肺动脉高压（PH）是一种严重且罕见的疾病，其常源于基因突变。歌舞伎综合征（KS）是一种染色体异常疾病，起源于赖氨酸甲基转移酶 2D（KMT2D）的突变。最近的证据表明，KMT2D 突变与儿科肺部疾病有关。然而，PH 与 KMT2D 突变的临床病程之间的关系在极少数病例中有所报道。因此，本文报道了 1 例病例，并对以往文献进行了复习，以更好地了解小儿 PH 与 KMT2D 突变之间的相关性。
一名 3 岁女孩因严重咳嗽、呼吸急促、疲劳和发热转入我院。体格检查显示面部畸形和生长发育迟缓。超声心动图显示小房间隔缺损（ASD），右心导管检查显示肺血管压力和阻力显著增加。基因检测提示存在 KMT2D 基因突变。患者最终被诊断为 KS。给予靶向药物降低肺血管压力，但效果不佳。
KS 可并发多种器官畸形和功能障碍。随着下一代测序技术的进步，越来越多与 KMT2D 突变相关的新表型被报道。本文提出了一个大胆的假设，即 PH 可能是与 KMT2D 突变相关的新表型。建议在临床实践中，应将 KS 和 PH 区分开来，避免延误诊断和治疗。KS 尚无特异性治疗药物。遗传性 PH 患儿的预后通常较差，肺移植可能会提高其生存率。
