title: Pulmonary hypertension--a new manifestation of mitochondrial disease.
abstract: Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.
authors.affiliation: Department of Gastroenterology, Children's Hospital Westmead, Locked Bag 4001, Westmead, Sydney, NSW 2145, Australia.
authors.forename: A R
authors.initials: AR
authors.lastname: Barclay
authors.forename: G
authors.initials: G
authors.lastname: Sholler
authors.forename: J
authors.initials: J
authors.lastname: Christodolou
authors.forename: A
authors.initials: A
authors.lastname: Shun
authors.forename: S
authors.initials: S
authors.lastname: Arbuckle
authors.forename: S
authors.initials: S
authors.lastname: Dorney
authors.forename: M O
authors.initials: MO
authors.lastname: Stormon
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D004579:Electron Transport; D017809:Fatal Outcome; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology*; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism; D008107:Liver Diseases / Q000378:metabolism; D017093:Liver Failure; D016031:Liver Transplantation; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000401:mortality / Q000473:pathology; D012867:Skin / Q000378:metabolism; D013997:Time Factors
chemical_list: D000255:Adenosine Triphosphate