title: Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37.
abstract: Mulibrey nanism (MUL) is a rare autosomal recessive disorder with severe primordial growth retardation and multiorgan involvement, caused by mutations in TRIM37. Early clinical detection is important since more than 50 % of the patients develop congestive heart failure. We report a 12-year-old patient who presented in infancy with severe growth retardation, dysmorphic features, and cleft palate. Clinical diagnosis of MUL was established at the age of 5 years. Postmortem, molecular diagnostic confirmed MUL as a novel 1-bp deletion (c.1233delA) in exon 14 of the TRIM37 coding region. Cardiac examination at the age of 6 years revealed constrictive pericarditis with significant elevation of atrial filling pressures, consecutive hepatomegaly, and protein loosing enteropathy. Since the parents refused pericardectomy, surgery was delayed until the age of 12 years, when congestive heart failure deteriorated. Despite pericardectomy, the boy died from persistent right heart failure.
  
  
  CONCLUSIONS
  Our report underlines the necessity of early clinical diagnosis of Mulibrey nanism. Careful cardiologic examination is required to detect constrictive pericarditis, which is a major factor of mortality in these patients. Pericardectomy should be performed early, to avoid sequelae of persisting congestive heart failure.
authors: Department of Pediatric Cardiology, Pulmonology and Intensive Care, Universitaetsklinikum Tübingen, Hoppe-Seyler Str. 1, 72076, Tübingen, Germany, matthias.kumpf@med.uni-tuebingen.de.
authors: Matthias
authors: M
authors: Kumpf
authors: Riikka H
authors: RH
authors: Hämäläinen
authors: Michael
authors: M
authors: Hofbeck
authors: Winfried
authors: W
authors: Baden
mesh_terms: D002648:Child; D042241:Early Diagnosis; D017809:Fatal Outcome; D006333:Heart Failure / Q000209:etiology* / Q000235:genetics; D006801:Humans; D008297:Male; D050336:Mulibrey Nanism / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010492:Pericardiectomy / Q000009:adverse effects*; D000070584:Tripartite Motif Proteins; D044767:Ubiquitin-Protein Ligases
chemical_list: D009687:Nuclear Proteins; D000070584:Tripartite Motif Proteins; C411745:TRIM37 protein, human; D044767:Ubiquitin-Protein Ligases
references: MAGMA. 2000 Nov;11(1-2):84-6
references: 11187000
references: Circulation. 2003 Jun 10;107(22):2810-5
references: 12756154
references: Pediatr Cardiol. 2007 May-Jun;28(3):155-62
references: 17375349
references: J Cardiovasc Magn Reson. 2004;6(3):645-52
references: 15347129
references: J Clin Endocrinol Metab. 2011 Nov;96(11):3399-407
references: 21865362
references: Helv Paediatr Acta Suppl. 1989 Jun;52:1-125
references: 2737921
references: J Med Genet. 2004 Feb;41(2):92-8
references: 14757854
references: J Pathol. 2009 Jun;218(2):163-71
references: 19334051
references: Clin Endocrinol (Oxf). 2012 Sep;77(3):335-42
references: 22624670
references: Pediatrics. 2007 Jul;120(1):e102-11
references: 17548484
references: Nat Genet. 2000 Jul;25(3):298-301
references: 10888877
references: Eur J Pediatr. 1995 Dec;154(12):958-68
references: 8801103
references: Am J Hum Genet. 2002 May;70(5):1215-28
references: 11938494