Difficult diagnosis of cardiac haemochromatosis: a case report

European Heart Journal. Case Reports
Vaida SudmantaitėRimgaudas Katkus

Abstract

Primary iron overload cardiomyopathy is an important and potentially preventable cause of heart failure (HF), usually manifesting in the 4-5th decade of life. Patients may be asymptomatic early in the disease with hidden progression of cardiac dysfunction. The challenge of timely detection is an awareness of this systemic disorder and an adequate degree of clinical vigilance. A 48-year-old man was referred to the university clinic due to the episode of atrial fibrillation. The specific features of bronze skin and yellow eyes together with a combination of syndromes (cardiomyopathy, cirrhosis, ascites and portal hypertension, diabetes mellitus, and chronic kidney disease) stimulated the testing of iron metabolism markers, which were far above the normal range. Echocardiography and cardiac magnetic resonance (CMR) showed the dilatation of all cardiac cavities and biventricular systolic dysfunction. CMR T2* mapping was consistent with the diagnosis of myocardial and hepatic siderosis. Hereditary Type I haemochromatosis was confirmed by a genetic test. After 6 months of standard HF treatment, chelation therapy with deferiprone and regular phlebotomies imaging tests showed a reduction of ventricular and atrial volumes, an improvemen...Continue Reading

References

Dec 2, 2009·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·R V H P HuijskesI C van Gelder
Oct 27, 2010·International Journal of Cardiology·Almudena CascalesFrancisco Ayala de la Peña
Apr 1, 2011·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Bruce R BaconUNKNOWN American Association for the Study of Liver Diseases
Nov 16, 2011·Circulation·Dimitrios T Kremastinos, Dimitrios Farmakis
Mar 21, 2013·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·John-Paul CarpenterDudley J Pennell
Feb 8, 2014·Cardiology in Review·Vinay GulatiWilliam H Frishman
Apr 29, 2016·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Mohammed H AlamDudley J Pennell
Oct 30, 2016·The Canadian Journal of Cardiology·Lydie TauchenováJosef Kautzner
May 13, 2017·Heart Failure Reviews·A S LotaR H Mohiaddin
Feb 16, 2018·Journal of Magnetic Resonance Imaging : JMRI·Tom HilbertGunnar Krueger
May 17, 2018·Archives of Medical Science : AMS·Wilbert S Aronow

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BETA
biopsy

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