title: Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome.
abstract: We admitted a 16-year-old boy with the Cohen syndrome to our institution for increasing dyspnoea. Investigations revealed idiopathic pulmonary hypertension. He was commenced on bosentan and oral anticoagulation and was followed up for nearly 7 years, during which he was readmitted for dynamic measurements of pulmonary artery pressure. Despite initial improvement, the right heart pressures increased again and sildenafil was added. His final hospitalisation was due to increasing breathlessness and episodes of syncope. The addition of prostacyclin conferred no reduction in pulmonary artery pressure. The patient suffered a cardiac arrest and remained intubated for 2 weeks, during which Klebsiella pneumonia and superinfection with the H1N1 swine flu virus occurred. The patient died due to multi-organ failure, nearly 7 years after his initial diagnosis. The Cohen syndrome, its phenotype and clinical findings, and the incidence and treatment of pulmonary hypertension are discussed.
authors.affiliation: Second Cardiology Department, Onassis Cardiac Surgery Centre, 356 Syngrou Avenue, Athens, Greece. philipcokkinos@yahoo.com
authors.forename: Philip
authors.initials: P
authors.lastname: Cokkinos
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Gkouziouta
authors.forename: George
authors.initials: G
authors.lastname: Karavolias
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Kariofillis
authors.forename: Vassilis
authors.initials: V
authors.lastname: Voudris
mesh_terms: D000293:Adolescent; D000925:Anticoagulants / Q000627:therapeutic use*; D000959:Antihypertensive Agents / Q000627:therapeutic use*; D000077300:Bosentan; D002658:Developmental Disabilities / Q000150:complications / Q000188:drug therapy; D065627:Familial Primary Pulmonary Hypertension; D017809:Fatal Outcome; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications* / Q000188:drug therapy; D008607:Intellectual Disability / Q000150:complications* / Q000188:drug therapy; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000188:drug therapy; D009123:Muscle Hypotonia / Q000150:complications* / Q000188:drug therapy; D009216:Myopia / Q000150:complications* / Q000188:drug therapy; D009765:Obesity / Q000150:complications* / Q000188:drug therapy; D010879:Piperazines / Q000627:therapeutic use*; D011687:Purines / Q000627:therapeutic use; D012162:Retinal Degeneration; D000068677:Sildenafil Citrate; D013449:Sulfonamides / Q000627:therapeutic use*; D013450:Sulfones / Q000627:therapeutic use*; D016896:Treatment Outcome; D014665:Vasodilator Agents / Q000627:therapeutic use*
chemical_list: D000925:Anticoagulants; D000959:Antihypertensive Agents; D010879:Piperazines; D011687:Purines; D013449:Sulfonamides; D013450:Sulfones; D014665:Vasodilator Agents; D000068677:Sildenafil Citrate; D000077300:Bosentan