[Pulmonary hypertension in hereditary haemorrhagic teleangiectasia]. / Pulmonalvaskuläre Beteiligung bei Morbus Osler.

BACKGROUND: In hereditary haemorrhagic teleangiectasia (HHT) can be accompanied by pulmonary arteriovenous vascular malformations (PAVM). Pulmonary hypertension (PH) is regarded as a rare pulmonary manifestation. METHODS AND PATIENTS: We non-invasively assessed the pulmonary circulation in 20 patients with HHT using standard resting echocardiography including contrast studies. In 14 patients a mutation in the endoglin gene was present. The other 6 patients carried a mutation in the Alk-1 gene. RESULTS: We identified 4 patients with manifest PH, among them 2 patients (both with endoglin mutations) with concurrent thromboembolism, and 2 patients (both with Alk-1 mutations) with hepatic manifestations of HHT. Two patients required specific pulmonary vasoactive therapy with sildenafil and bosentan, respectively. Another patient received embolisation therapy for hypercirculatory PH due to hepatic arteriovenous malformations. Pulmonary arteriovenous malformations were found in 8 patients (7 with endoglin, and 1 with Alk-1 mutations), among them were 2 patients with PH. CONCLUSIONS: Patients with HHT should undergo echocardiographic screening for PAVM as well as PH. When PH is detected, other conditions such as hepatic or thromboembolic diseases should be considered, regardless of the underlying genetic defect.

Noninvasive detection of early pulmonary vascular dysfunction in scleroderma.

BACKGROUND: Pulmonary arterial hypertension is a serious complication in scleroderma and early diagnosis is warranted. PATIENTS AND METHODS: 33 Scleroderma patients (mean age 54 [SD 11] years) with normal systolic pulmonary artery pressure (sPAP), right and left ventricular parameters at rest were enrolled in this study. They were investigated by echocardiography during physical exercise and hypoxia. A hypertensive pulmonary vascular reaction was diagnosed when sPAP inappropriately increased during exercise compared to individual exercise tolerance, or if sPAP was >40mm Hg during hypoxia exposure, respectively. RESULTS: In 17 patients there was a normal increase of sPAP at exercise of 34 [8]mm Hg (mean VO2 max 70 [17]% predicted), and 29 [5]mm Hg during hypoxia. Sixteen patients developed a hypertensive pulmonary vascular response with a sPAP of 47 [9]mm Hg during exercise (VO2max 64 [15]% pred.), and 54 [7]mm Hgmm Hg during hypoxia, respectively. The sPAP/VO2 max ratio was higher in patients with a hypertensive response (0.76 [0.17] vs. 0.49 [0.12] p<0.0001). There was no difference in scleroderma subtype, duration of disease, gender or age between groups. During a 3-year follow up one patient with a hypertensive response developed manifest pulmonary arterial hypertension. CONCLUSION: Non-invasive assessment of pulmonary circulation during physical exercise and/or hypoxia enables screening for pulmonary vascular dysfunction in scleroderma.