{
  "abstract": "A 26-year-old man presented with exertional dyspnoea and was diagnosed with pulmonary arterial hypertension (PAH) of uncertain aetiology at multiple hospitals. A high-resolution chest CT scan revealed two key findings: diffuse lobular-centred ground-glass nodules in both lungs and multiple lymph nodes in the hilar and mediastinal regions ( figure 1A,B). Transthoracic echocardiography demonstrated moderate PAH (pulmonary artery systolic pressure 65 mmHg), right ventricular hypertrophy and left ventricular short-axis view with a ‘D’ shape (figure 1C). Right heart acoustic angiography revealed a patent foramen ovale (PFO; figure 1D). Pulmonary function tests showed severely reduced diffusion capacity. Right heart catheterisation confirmed precapillary PAH, with a pulmonary arterial wedge pressure of 13 mm Hg, pulmonary vascular resistance of 6.30 Wood units and cardiac output of 3.49 L/min.",
  "authors": [
    {
      "affiliations": [
        "Department of Cardiovascular Medicine, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China",
        "Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China"
      ],
      "name": "Jia-Yong Qiu"
    },
    {
      "affiliations": [
        "Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China"
      ],
      "name": "Kai Zhang"
    },
    {
      "affiliations": [
        "Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China"
      ],
      "name": "Shen-Shen Huang"
    },
    {
      "affiliations": [
        "Neuro Cardio Vascular Diseases Center, Xuanwu Hospital Capital Medical University, Beijing, China"
      ],
      "name": "Xi-Qi Xu"
    },
    {
      "affiliations": [
        "Department of Cardiovascular Medicine, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China"
      ],
      "name": "Zhi-Cheng Jing"
    }
  ],
  "title": "Hereditary pulmonary veno-occlusive disease with a distinctive rare genetic pattern",
  "uid": "8e5d3128-9a48-5893-a6e0-b505034a214a"
}