Genetic variations in PTPN11 lead to a recurrent left ventricular outflow tract obstruction phenotype in childhood hypertrophic cardiomyopathy

心室流出道梗阻 肥厚性心肌病 医学 心脏病学 内科学 心肌病 PTPN11型 努南综合征 外显子组测序 突变 胃肠病学 病理 遗传学 生物 心力衰竭 基因 结直肠癌 癌症 克拉斯
作者
Shun Liu,Yiqi Zhao,Han Mo,Xiumeng Hua,Xiao Chen,Weiteng Wang,Yijing Li,Jun X. Yan,Jiangping Song
出处
期刊:The Journal of Thoracic and Cardiovascular Surgery [Elsevier BV]
标识
DOI:10.1016/j.jtcvs.2024.06.012
摘要

Objective Left ventricular septal myotomy provides a favorable prognosis for children with hypertrophic obstructive cardiomyopathy (HOCM). However, some children still suffer from recurrent left ventricular outflow tract obstruction (LVOTO) after surgery. Poor prognosis exists for HOCM caused by PTPN11 mutation. Therefore, the aim of this study was to determine the clinical features of recurrent obstruction in children with HOCM caused by pathogenic mutations in the PTPN11 gene. Methods A total of 56 children were diagnosed with HOCM underwent septal myectomies. Whole exome sequencing of 49 pediatric cardiomyopathies associated genes (including PTPN11) were performed. We performed hematoxylin-eosin(H&E), Masson, and wheat germ agglutinin (WGA)staining of tissues positive for PTPN11 and those negative for PTPN11 were conducted. Results Whole exome sequencing results showed 11 PTPN11 mutation (19.6%) children. In long-term follow-up (median 37 months, maximum 9 years), children with PTPN11 mutation had 6(54.5%) recurrent LVOTO compared with other groups (P=.015), but similar survival rates(P=.514). The mean postoperative time to recurrent obstruction was 22 ± 27 months. Children with PTPN11 mutation were 9-fold more likely to experience the risk associated with recurrent obstruction (95% CI = 1.77-45.81, P < .001). H&E, Masson and WGA staining also revealed more cardiomyocyte hypertrophy in PTPN11 mutation tissues. See Figure 4 for a graphical abstract of the study. Conclusion Children with PTPN11 mutation-associated hypertrophic cardiomyopathy have a higher risk of recurrent LVOTO.
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