Ishida Hidekazu, Maeda Jun, Uchida Keiko, Yamagishi Hiroyuki
Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita 565-0871, Osaka, Japan.
Department of Cardiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu 183-8561, Tokyo, Japan.
J Cardiovasc Dev Dis. 2023 Aug 3;10(8):333. doi: 10.3390/jcdd10080333.
Although pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between the two conditions. Segmental PH is a unique pediatric subtype of PH with unclear and/or multifactorial pathophysiological mechanisms, and is often associated with complex congenital heart disease (CHD), pulmonary atresia with ventricular septal defect, and aortopulmonary collateral arteries. Some cases of complex CHD, associated with a single ventricle after Fontan operation, show pathological changes in the small peripheral pulmonary arteries and pulmonary vascular resistance similar to those observed in pulmonary arterial hypertension (PAH). This condition is termed as the pediatric pulmonary hypertensive vascular disease (PPHVD). Recent advances in genetics have identified the genes responsible for PAH associated with developmental defects of the heart and lungs, such as and . Targeted therapies for PAH have been developed; however, their effects on PH associated with developmental heart and lung defects remain to be established. Real-world data analyses on the anatomy, pathophysiology, genetics, and molecular biology of unique PPHVD cases associated with developmental defects of the heart and lungs, using nationwide and/or international registries, should be conducted in order to improve the treatments and prognosis of patients with these types of pediatric PH.
尽管小儿肺动脉高压（PH）与成人PH有共同的特征和机制，但这两种情况之间也存在一些显著差异。节段性PH是PH的一种独特的小儿亚型，其病理生理机制尚不清楚和/或为多因素，且常与复杂先天性心脏病（CHD）、室间隔缺损的肺动脉闭锁以及主肺动脉侧支动脉相关。一些与Fontan手术后单心室相关的复杂CHD病例，其外周小肺动脉和肺血管阻力的病理变化与肺动脉高压（PAH）中观察到的相似。这种情况被称为小儿肺动脉高压性血管疾病（PPHVD）。遗传学的最新进展已经确定了与心肺发育缺陷相关的PAH的致病基因，如 和 。已经开发出了针对PAH的靶向治疗方法；然而，它们对与心肺发育缺陷相关的PH的疗效仍有待确定。应该利用全国性和/或国际性登记处，对与心肺发育缺陷相关的独特PPHVD病例的解剖学、病理生理学、遗传学和分子生物学进行真实世界数据分析，以改善这类小儿PH患者的治疗和预后。
