Mache C J, Gamillscheg A, Popper H H, Haworth S G
Department of Pediatrics, Medical University Graz, Auenbruggerplatz 30, A-8036 Graz, Austria.
Thorax. 2008 Jan;63(1):85-6. doi: 10.1136/thx.2007.076109.
The case history is presented of a male infant who was thought to have idiopathic pulmonary arterial hypertension (PAH) at 3 months of age. Subsequently the PAH decreased unexpectedly and diffuse pulmonary arteriovenous malformations (PAVMs) were seen at 6.9 years of age for the first time. Hereditary haemorrhagic telangiectasia type 1 (HHT1) related to an endoglin mutation was diagnosed. At 10.3 years of age a lung biopsy showed diffuse PAVMs as well as pulmonary arteriopathy with medial hypertrophy. This is the first case of HHT1 presenting with PAH at such a young age. The subsequent decrease in pulmonary arterial pressure (PAP) was probably caused by the development of PAVMs. In the presence of PAVMs, measurement of the PAP may underestimate the extent of PAH-related vasculopathy.
本文介绍了一名男婴的病例史。该男婴在3个月大时被认为患有特发性肺动脉高压（PAH）。随后，PAH意外下降，在6.9岁时首次发现弥漫性肺动静脉畸形（PAVM）。诊断为与内皮素基因突变相关的1型遗传性出血性毛细血管扩张症（HHT1）。在10.3岁时，肺活检显示弥漫性PAVM以及伴有中层肥厚的肺血管病。这是首例在如此年幼时出现PAH的HHT1病例。随后肺动脉压（PAP）的下降可能是由PAVM的发展引起的。在存在PAVM的情况下，PAP的测量可能会低估PAH相关血管病变的程度。
