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Chronic heart failure and hepatopathy are major determinants of prognosis in MUL patients, which prompted us to study liver biochemistry and pathology in a national cohort of MUL patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, laboratory and imaging data were collected in a cross\u2010sectional survey and retrospectively from hospital records. Liver histology and immunohistochemistry for 10 biomarkers were assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010one MUL patients (age 1\u201351\u00a0years) with tumour suspicion showed moderate congestion, steatosis and fibrosis in liver biopsies and marginally elevated levels of serum GGT, AST, ALT and AST to platelet ratio index (APRI) in 20%\u201366%. Similarly, GGT, AST, ALT and APRI levels were moderately elevated in 12%\u201369% of 17 MUL patients prior to pericardiectomy. In a cross\u2010sectional evaluation of 36 MUL outpatients, GGT, total bilirubin and galactose half\u2010life (Gal\u00bd) correlated with age (<jats:italic>r<\/jats:italic>\u00a0=\u00a00.45, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.017; <jats:italic>r<\/jats:italic>\u00a0=\u00a00.512, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.007; <jats:italic>r<\/jats:italic>\u00a0=\u00a00.44, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.03 respectively). The frequency of clearly abnormal serum values of 15 parameters analysed, however, was low even in patients with signs of restrictive cardiomyopathy. Transient elastography (TE) of the liver revealed elevated levels in 50% of patients with signs of heart failure and TE levels correlated with several biochemistry parameters. Biomarkers of fibrosis, sinusoidal capillarization and hepatocyte metaplasia showed increased expression in autopsy liver samples from 15 MUL patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Liver disease in MUL patients was characterized by sinusoidal dilatation, steatosis and fibrosis with individual progression to cirrhosis and moderate association of histology with cardiac function, liver biochemistry and elastography.<\/jats:p><\/jats:sec>","DOI":"10.1111\/liv.15213","type":"journal-article","created":{"date-parts":[[2022,2,27]],"date-time":"2022-02-27T04:28:12Z","timestamp":1645936092000},"page":"1369-1378","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Liver pathology and biochemistry in patients with mutations in <scp>TRIM37<\/scp> gene (Mulibrey nanism)"],"prefix":"10.1111","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8399-9697","authenticated-orcid":false,"given":"Johanna","family":"Sivunen","sequence":"first","affiliation":[{"name":"Children\u00b4s Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susann","family":"Karlberg","sequence":"additional","affiliation":[{"name":"Children\u00b4s Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reetta","family":"Kivisaari","sequence":"additional","affiliation":[{"name":"Children\u00b4s Hospital, University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Department of Pediatric Radiology, HUS Medical Imaging Centre University of Helsinki and Helsinki University Hospital  Helsinki 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