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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access April 8, 2011

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

  • Claudia Stöllberger EMAIL logo and Josef Finsterer
From the journal Open Medicine

Abstract

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.

[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.2009.07.01710.1016/j.ymgme.2009.07.017Search in Google Scholar PubMed

[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/10.1186/1752-1947-3-3110.1186/1752-1947-3-31Search in Google Scholar PubMed PubMed Central

[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/jen31910.1093/ejechocard/jen319Search in Google Scholar PubMed

[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/s00415-002-0770-910.1007/s00415-002-0770-9Search in Google Scholar PubMed

[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.45.167610.2169/internalmedicine.45.1676Search in Google Scholar PubMed

Published Online: 2011-4-8
Published in Print: 2011-6-1

© 2011 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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