Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.

中文翻译：

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TBX4 种系突变对肺部临床组织病理学表型的长期影响。

Tbx4 蛋白在发育中的肺的间充质中表达，有助于气道分支和远端肺的生长。人们越来越认识到儿童肺动脉高压 (PAH) 发病与编码 T-box 转录因子 4 基因 (TBX4) 的遗传变异之间的关联。Tbx4 相关的 PAH 发病具有双峰年龄分布，包括新生儿中严重至致命的 PAH 和晚发型 PAH。我们对一名携带杂合 TBX4 变异的 24 岁男性进行了尸检研究，该男性在 12 岁时患上肺动脉高压。这一独特的病例凸显了 TBX4 突变背景下导致致命心肺衰竭的复杂肺部组织病理学。