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Hereditary pulmonary veno-occlusive disease with a distinctive rare genetic pattern

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机构： [1]Department of Cardiovascular Medicine, Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China [2]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 [3]Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China [4]Neuro Cardio Vascular Diseases Center, Xuanwu Hospital Capital Medical University, Beijing, China

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CASE VIGNETTE 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).

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大类 | 1 区

医学

小类 | 2 区呼吸系统

最新[2025]版：

大类 | 1 区

医学

小类 | 2 区呼吸系统

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第一作者机构： [1]Department of Cardiovascular Medicine, Guangdong Cardiovascular Institute, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China [2]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

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