title: [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia].
abstract: OBJECTIVE
  To study the clinical features and treatment outcomes of cardiovascular system involvement in children with methylmalonic aciduria combined with hyperhomocysteinemia (MMACHC).
  
  
  METHODS
  The clinical data of 10 children with methylmalonic aciduria combined with hyperhomocysteinemia and who had cardiovascular system involvement were retrospectively analyzed and the treatment outcomes were followed up.
  
  
  RESULTS
  In the 10 patients, there were 4 cases with initial presentations of cardiovascular system symptoms such as shortness of breath and dyspnea, 3 cases with urinary tract symptoms such as edema, hematuria and proteinuria, and 3 cases with nervous system symptoms such as developmental retardation and convulsions. The 10 patients had different types and severity of cardiovascular injuries. After 3 months to 8 years of follow-up, the congenital heart defects resolved naturally in 2 cases, and the patient with arrhythmia had no obvious changes. In 5 cases of hypertension, blood pressures recovered to normal in 3 cases, and 1 case was lost to follow-up. In 5 patients with pulmonary hypertension, 2 died, 2 recovered, and 1 case had mildly elevated pulmonary artery pressure. Seven patients underwent MMACHC gene testing, and 5 showed c.80A>G mutations.
  
  
  CONCLUSIONS
  Metabolic disease should be taken into account for the children with unexplained pulmonary hypertension and hypertension with the onset of the shortness of breath and dyspnea. The severity of cardiovascular system involvement might be one of the most important factors affecting the prognosis of children with MMACHC. Cardiavascular system involvement of the patients may be related to MMACHC c.80A>G mutations.
authors.affiliation: Department of Pediatrics, First Hospital of Peking University, Beijing 100034, China. qijianguang@sohu.com.
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Qi
authors.forename: Jian-Guang
authors.initials: JG
authors.lastname: Qi
authors.forename: Yu-Peng
authors.initials: YP
authors.lastname: Liu
authors.forename: Hui
authors.initials: H
authors.lastname: Yan
authors.forename: Xue-Qin
authors.initials: XQ
authors.lastname: Liu
authors.forename: Xin
authors.initials: X
authors.lastname: Zhang
authors.forename: Hui-Jie
authors.initials: HJ
authors.lastname: Xiao
authors.forename: Yan-Ling
authors.initials: YL
authors.lastname: Yang
authors.forename: Jun-Bao
authors.initials: JB
authors.lastname: DU
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D002318:Cardiovascular Diseases / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies