Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View
Hereditary hemochromatosis (HH) is a genetic disease leading to excessive iron absorption, its accumulation, and oxidative stress induction causing different organ damage, including the heart. The process of cardiac involvement is slow and lasts for years. Cardiac pathology manifests as an impaired...
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doaj-f6bc2f5617244b099f4d6b91a2c38f272021-07-23T13:37:23ZengMDPI AGDiagnostics2075-44182021-07-01111279127910.3390/diagnostics11071279Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of ViewLudmiła Daniłowicz-Szymanowicz0Michał Świątczak1Katarzyna Sikorska2Rafał R. Starzyński3Alicja Raczak4Paweł Lipiński5Department of Cardiology and Electrotherapy, Medical University of Gdańsk, Dębinki 7 St., 80-211 Gdańsk, PolandDepartment of Cardiology and Electrotherapy, Medical University of Gdańsk, Dębinki 7 St., 80-211 Gdańsk, PolandDepartment of Tropical Medicine and Epidemiology, Medical University of Gdańsk, Dębinki 7 St., 80-211 Gdańsk, PolandDepartment of Molecular Biology, Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Wólka Kosowska, 05-552 Jastrzębiec, PolandClinical Psychology Department, Faculty of Health Sciences, Medical University of Gdańsk, 80-211 Gdańsk, PolandDepartment of Molecular Biology, Institute of Genetics and Animal Breeding, Polish Academy of Sciences, Wólka Kosowska, 05-552 Jastrzębiec, PolandHereditary hemochromatosis (HH) is a genetic disease leading to excessive iron absorption, its accumulation, and oxidative stress induction causing different organ damage, including the heart. The process of cardiac involvement is slow and lasts for years. Cardiac pathology manifests as an impaired diastolic function and cardiac hypertrophy at first and as dilatative cardiomyopathy and heart failure with time. From the moment of heart failure appearance, the prognosis is poor. Therefore, it is crucial to prevent those lesions by upfront therapy at the preclinical phase of the disease. The most useful diagnostic tool for detecting cardiac involvement is echocardiography. However, during an early phase of the disease, when patients do not present severe abnormalities in serum iron parameters and severe symptoms of other organ involvement, heart damage may be overlooked due to the lack of evident signs of cardiac dysfunction. Considerable advancement in echocardiography, with particular attention to speckle tracking echocardiography, allows detecting discrete myocardial abnormalities and planning strategy for further clinical management before the occurrence of substantial heart damage. The review aims to present the current state of knowledge concerning cardiac involvement in HH. In addition, it could help cardiologists and other physicians in their everyday practice with HH patients.https://www.mdpi.com/2075-4418/11/7/1279hereditary hemochromatosis<i>HFE</i> geneheart damage |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ludmiła Daniłowicz-Szymanowicz Michał Świątczak Katarzyna Sikorska Rafał R. Starzyński Alicja Raczak Paweł Lipiński |
spellingShingle |
Ludmiła Daniłowicz-Szymanowicz Michał Świątczak Katarzyna Sikorska Rafał R. Starzyński Alicja Raczak Paweł Lipiński Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View Diagnostics hereditary hemochromatosis <i>HFE</i> gene heart damage |
author_facet |
Ludmiła Daniłowicz-Szymanowicz Michał Świątczak Katarzyna Sikorska Rafał R. Starzyński Alicja Raczak Paweł Lipiński |
author_sort |
Ludmiła Daniłowicz-Szymanowicz |
title |
Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View |
title_short |
Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View |
title_full |
Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View |
title_fullStr |
Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View |
title_full_unstemmed |
Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View |
title_sort |
pathogenesis, diagnosis, and clinical implications of hereditary hemochromatosis—the cardiological point of view |
publisher |
MDPI AG |
series |
Diagnostics |
issn |
2075-4418 |
publishDate |
2021-07-01 |
description |
Hereditary hemochromatosis (HH) is a genetic disease leading to excessive iron absorption, its accumulation, and oxidative stress induction causing different organ damage, including the heart. The process of cardiac involvement is slow and lasts for years. Cardiac pathology manifests as an impaired diastolic function and cardiac hypertrophy at first and as dilatative cardiomyopathy and heart failure with time. From the moment of heart failure appearance, the prognosis is poor. Therefore, it is crucial to prevent those lesions by upfront therapy at the preclinical phase of the disease. The most useful diagnostic tool for detecting cardiac involvement is echocardiography. However, during an early phase of the disease, when patients do not present severe abnormalities in serum iron parameters and severe symptoms of other organ involvement, heart damage may be overlooked due to the lack of evident signs of cardiac dysfunction. Considerable advancement in echocardiography, with particular attention to speckle tracking echocardiography, allows detecting discrete myocardial abnormalities and planning strategy for further clinical management before the occurrence of substantial heart damage. The review aims to present the current state of knowledge concerning cardiac involvement in HH. In addition, it could help cardiologists and other physicians in their everyday practice with HH patients. |
topic |
hereditary hemochromatosis <i>HFE</i> gene heart damage |
url |
https://www.mdpi.com/2075-4418/11/7/1279 |
work_keys_str_mv |
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