Idiopathic pulmonary arterial hypertension is a rare disease in children. We report a case of a 2-year old boy admitted to the intensive care unit of our hospital for severe dyspnea and epistaxis. Laboratory investigations showed hemolytic anemia with schizocytes and severe thrombocytopenia. Cardiac investigations diagnosed supra-systemic pulmonary arterial hypertension, which was refractory to maximal medical treatment. On evolution, he had several cardiac arrests and finally died 8 days after admission. Autopsy was performed and showed typical lesions of idiopathic pulmonary hypertensive arteriopathy characterized by plexiform lesions of the interlobular arteries containing numerous disseminated intravascular microthrombi. The rest of the family was screened, DNA was stored, and genetic study of BMPR2 was planned.
If the inline PDF is not rendering correctly, you can download the PDF file here.
1. Simonneau G Galie N Rubin LJ Langleben D Seeger W Domenighetti G Gibbs S Lebrec D Speich R Beghetti M Rich S Fishman A. Clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2004;43:5S-12S.
2. Galie N Torbicki A Barst R Dartevelle P Haworth S Higenbottam T Olschewski H Peacock A Pietra G Rubin LJ Simonneau G Priori SG Garcia MA Blanc JJ Budaj A Cowie M Dean V Deckers J Burgos EF Lekakis J Lindahl B Mazzotta G McGregor K Morais J Oto A Smiseth OA Barbera JA Gibbs S Hoeper M Humbert M Naeije R Pepke-Zaba J; Task Force. Guidelines on diagnosis and treatment of pulmonary arterial hypertension. The task force on diagnosis and treatment of pulmonary arterial hypertension of the European society of cardiology. Eur Heart J. 2004;25:2243-78.
3. Fasnacht MS Tolsa JF Beghetti M. The Swiss registry for pulmonary arterial hypertension: The paediatric experience. Swiss Med Wkly. 2007;137:510-3.
4. Wagenvoort CA Mooi WJ. Biopsy pathology of the pulmonary vasculature. London:Chapman and Hall; 1989.
5. Rabinovitch M. Molecular pathogenesis of pulmonary arterial hypertension. J Clin Invest. 2008;118:2372-79.
6. Nave AH Mizikova I Niess G Steenbock H Reichenberger F Talavera ML Veit F Herold S Mayer K Vadasz I Weissmann N Seeger W Brinckmann J Morty RE. Lysyl Oxidases paly a causal role in vasculature remodeling in clinical and experimental pulmonary arterial hypertension. Arterioscler Thromb Vasc Biol. 2014;34:1446-58.
7. Thomson JR Machada RD Pauciulo MW Morgan NV Humbert M Elliott GC Ward K Yacoub M Mikhail G Rogers P Newman J Wheeler L Higenbottam T Gibbs JS Egan J Crozier A Peacock A Allcock R Corris P Loyd JE Trembath RC Nichols WC. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPRII a receptor member of the TGF-beta family. J Med Genet. 2000;37:741-5.