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570 Pulmonary Hypertension as a Complication of Von Recklinghausen Disease
  1. LT Celik,
  2. K Papakostas,
  3. A Artmann,
  4. TP Le
  1. Pediatric Cardiology, Klinikum Links der Weser, Bremen, Germany


Introduction Neurofibramatosis (NF) is occasionally complicated by systemic vasculopathy such as myocardial infarction, renovascular hypertension etc. The appearance of pulmonary embolism (PE) is not desribed until yet.

Case Report 15-year-old female patient with neurofibromatosis type I. Progressive dyspnoe, general fatigue and chest pain biginning 6 days before hospital admission. Anamnestic no clinical sign for deep vein thrombosis. No oral contraceptive, non smoker. Laboratory findings: Elevated troponine, plasma brain natriuretic petide (BNP) and D-dimer. Normal ECG, echocardiogram showed right ventricular and atrial enlargement with moderate tricuspid regurgitation and estimated right ventricular systolic pressure at 45 mm Hg and dilated main pulmonary artery. Left ventricular function was normal.

Chest x ray showed right heart enlargement but normal lung structure. Lung CT revealed massive PE in left and right branches and a mediastinal tumor. Lysis with Alteplase was given for 4 days. Normalisation of laboratory and echocardiogram. Because of the tumor angiographic-MRI was done for follow-up and showed normal flow pattern in pulmonal vasculature. The tumor was classified as a ganglioneurome. Genetic thrombophilia testing was negative, the ganglioneuroma is sugically removed. The child was discharged with low weight heparine.

Conclusion Von Recklinghausen disease generally has a good prognosis. Major risks for morbidity and mortality are vascular complications. In case of pulmonary hypertension in these patients early diagnosis and sufficient therapy is essential to avoid major complications. Pulmonary embolism and NF as a cause for pulmonary hypertension has not been described before.

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