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

• Authors: Claudia Stöllberger , Josef Finsterer
• 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.

Keywords

EN

Non-compaction; Polyneuropathy; Hemochromatosis; Cardiomyopathy

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2011
• Volume: 6
• Issue: 3
• Pages: 309-311

Dates

published

1 - 6 - 2011

online

8 - 4 - 2011

Contributors

author

Claudia Stöllberger

• 2nd Medical Department, Krankenanstalt Rudolfstiftung, Juchgasse 25, 1030, Wien, Österreich

author

Josef Finsterer

• 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]

Identifiers

DOI

10.2478/s11536-011-0015-3