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Journal
2011 | 6 | 3 | 309-311
Article title

Non-compaction and polyneuropathy in a patient homozygous for the H63D HFE gene mutation

Content
Title variants
Languages of publication
EN
Abstracts
EN
Left ventricular hypertrabeculation/non-compaction (LVHT) is a cardiac abnormality that is increasingly reported with an association to several genetic disorders. We report an association of LVHT with genetically confirmed hemochromatosis and polyneuropathy in a 54-year old Caucasian female.
Publisher

Journal
Year
Volume
6
Issue
3
Pages
309-311
Physical description
Dates
published
1 - 6 - 2011
online
8 - 4 - 2011
Contributors
  • Krankenanstalt Rudolfstiftung, Juchgasse 25, 1030, Wien, Österreich
References
  • [1] Profitlich LM, Kirmse B, Wasserstein MP, Diaz GA, Stivastava S. High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria, Mol Genet Metab., 2009, 98, 344–348 http://dx.doi.org/10.1016/j.ymgme.2009.07.017[WoS][Crossref]
  • [2] Ahmed I, Phan TT, Lipkin GW, Frenneaux M. Ventricular non-compaction in a female patient with nephropathic cystinosis: a case report, J Med Case Reports, 2009, 3, 31 http://dx.doi.org/10.1186/1752-1947-3-31[Crossref]
  • [3] Luckie M, Irwin B, Nair S, Greenwood J, Khattar R. Left ventricular non-compaction in identical twins with thalassaemia and cardiac iron overload, Eur J Echocardiogr., 2009, 4, 509–512 http://dx.doi.org/10.1093/ejechocard/jen319[Crossref]
  • [4] Hermann W, Guenther P, Clark D, Wagner A. Polyneuropathy in idiopathic haemochromatosis, J Neurol., 2002, 249, 1316–1317 http://dx.doi.org/10.1007/s00415-002-0770-9[Crossref]
  • [5] Misawa S, Kuwabara S, Matsuda S, Sakakibara Y, Ogawa Y, Tashiro J, et al. Chronic inflammatory demyelinating polyneuropathy associated with idiopathic hemochromatosis, Intern Med., 2006, 45, 871–873 http://dx.doi.org/10.2169/internalmedicine.45.1676[Crossref]
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.-psjd-doi-10_2478_s11536-011-0015-3
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