Hipertensão arterial pulmonar hereditária apresentando-se como venopatia oclusiva

Abstract

KeywordsPulmonary hypertension; pulmonary occlusive venopathy; microvasculopathy; hereditary pulmonary arterial hypertension; sildenafil.A 33-year-old male with severe hereditary pulmonary arterial hypertension had a confirmed diagnosis of occlusive venopathy and microvasculopathy. He remained stable for three and a half years on oral sildenafil, 75 mg t. Case reportA 33-year old male was admitted in October 2002, with recent and progressive dyspnea, edema and ~10 kg weight loss. Two sisters of his had died of "primary pulmonary hypertension" at the ages of 11 and 14 years. There were no further data suggesting specific cardiac, respiratory or infectious diseases, joint or skin abnormalities or use of appetite suppressants. On physical examination he had a "weak" (undernourished) appearance (weight 60 kg; height 1.82 m), mild liver enlargement and lower limb edema. A loud pulmonic valve closure sound was heard on the precordium. Lung examination revealed mild rhonchi and fine rales on both sides, which disappeared completely following diuretic administration. Complementary imaging and laboratory tests for heart liver and lung disease, chronic thromboembolism, schistosomiasis, human immunodeficiency virus infection and connective tissue disorders were negative. DNA sequencing methodologies revealed no mutations in the coding region of the patient's BMPR2 gene. Right heart catheterization data were compatible with pulmonary arterial hypertension. Both inhaled nitric oxide and oral sildenafil were effective in reducing pulmonary vascular resistance. A marked elevation of the wedge pressure was registered during nitric oxide inhalation (Table 1). Open-lung biopsy confirmed the suspicion of pulmonary occlusive venopathy and depicted the concomitance of microvasculopathy (Figure 1).During the first two years of oral sildenafil therapy (75 mg t.i.d.), there was a sustained improvement in the sixminute walked distance (105 m and 399 m, respectively at baseline and 2 years) associated with an increase in Dopplerechocardiographic estimate of pulmonary (and systemic) flow (pulmonary systolic flow velocity-time integral of 0.10 m and 0.19m, respectively). Pulmonary edema was never observed. The clinical status deteriorated from three and a half to 4 years (walked distance 375 m to 261 m); bosentan was added (125 mg b.i.d., orally, final dose), and the patient was listed for lung transplantation. He died at five years post-diagnosis, despite the use of the combined therapy. Autopsy findings confirmed the initial diagnosis.