Cai Zongye, Lin Shuangxiang, Jin Nan, Fu Yahong, Zhang Ying, Cheng Jifang, Mao Yue, Li Yuanshi, Montani David, Jiang Jun
Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China.
State Key Laboratory of Transvascular Implantation Devices Hangzhou China.
Pulm Circ. 2025 Jul 9;15(3):e70110. doi: 10.1002/pul2.70110. eCollection 2025 Jul.
In a recent study conducted by Laura Stourm et al., the authors identified that patients with pulmonary hypertension (PH) harboring loss-of-function variants in the gene exhibit a unique spectrum of phenotypes. These include pulmonary involvement with lung parenchymal abnormalities and emphysema, as well as a range of extrapulmonary manifestations such as dysmorphic facial features, epilepsy, congenital heart defects, valvular and aortic diseases, thrombocytopenia, and periventricular nodular heterotopia (PVNH). Based on these findings, the study advocates for genetic screening in patients with PH who present with these specific phenotypic features. Here, we describe a clinical case that aligns closely with the observations reported in their study.
在劳拉·斯托姆等人最近进行的一项研究中，作者发现携带该基因功能丧失变异的肺动脉高压（PH）患者表现出独特的一系列表型。这些表型包括肺部实质异常和肺气肿的肺部受累，以及一系列肺外表现，如面部畸形、癫痫、先天性心脏缺陷、瓣膜和主动脉疾病、血小板减少症和室周结节性异位（PVNH）。基于这些发现，该研究主张对具有这些特定表型特征的PH患者进行基因筛查。在此，我们描述一个与他们研究中报告的观察结果密切相符的临床病例。
