Sudden cardiac death in hereditary hemochromatosis: an underestimated cause of death?

International Journal of Legal Medicine
M Klintschar, D Stiller


Hereditary hemochromatosis (HH) is a frequent autosomal recessive disease which causes iron-overload of various organs. Of all northern European affected individuals, 90-95% show 1 of 3 known point mutations in the HFE gene. Symptoms and organs involved can vary considerably: Only a small fraction of the 200,000-400,000 persons affected in Germany develop the classical picture of liver cirrhosis and/or pancreatic fibrosis. Nevertheless, the life expectancy of persons with moderate or even subclinical symptoms is reduced, in many cases due to myocardial damage leading to cardiomyopathy with greatly increased risk of sudden cardiac death. Although the high prevalence of HH suggests that sudden cardiac death due to cardiac HH is a relatively common cause of death, the forensic literature lacks such reports. We present the case of sudden cardiac death in a young man with histological findings of massive cardial hemochromatosis which is characterized by the fact that none of the three known mutations for HH were found. This case demonstrates that genetic screening alone might not be sufficient to identify all persons at risk to developing HH.


Aug 4, 2005·International Journal of Legal Medicine·Vittorio FineschiEmanuela Turillazzi
Jul 21, 2009·Forensic Science, Medicine, and Pathology·Neil E I Langlois
Mar 12, 2011·The American Journal of Forensic Medicine and Pathology·Michael PanellaKarl Williams
May 7, 2014·Advances in Medical Sciences·William J CashMichael E Callender
May 20, 2011·Journal of Cardiovascular Pharmacology and Therapeutics·Rabaa M Al-RousanEric R Blough
Jan 9, 2021·Circulation. Arrhythmia and Electrophysiology·Natthaphat Siri-AngkulLai-Hua Xie

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