Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension

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Abstract
Between March 2002 and January 2004, 99 consecutive non-related patients >20 years of age with IPAH and negative family history were evaluated. In all cases, diagnosis of IPAH was made by experienced and specialised cardiologists or pulmonologists according to WHO criteria.1, 14 Other causes of pulmonary hypertension such as illicit drug abuse or anorectic drug use were excluded by careful medical history evaluation. Underlying heart and lung diseases (recurrent pulmonary embolism, connective tissue disease, obstructive or restrictive lung disease) and HIV infection were excluded by a cascade of clinical examinations including laboratory tests, arterial blood gas analysis, chest x ray, pulmonary function tests, echocardiography, ventilation perfusion scanning, chest computed tomography, pulmonary angiography (when indicated), and cardiac catheterisation (table 1). EDTA blood samples were collected for genetic analysis in all patients. The study protocol was approved by the Ethics Committee of the Medical Faculty of the University of Heidelberg and written informed consent was given by each patient.