Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Monda, Emanuele; Lioncino, Michele; Rubino, Marta; Verrillo, Federica; Caiazza, Martina; Cirillo, Annapaola; Fusco, Adelaide; Fraia, Francesco Di; Fimiani, Fabio; Amodio, Federica; Borrelli, Nunzia; Mauriello, Alfredo; Natale, Francesco; Scarano, Gioacchino; Girolami, Francesca; Favilli, Silvia; Limongelli, Giuseppe

doi:10.1016/j.hfc.2021.07.001

Cited by 16 publications

(14 citation statements)

References 69 publications

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“…85 The most common cardiac complication of Friedreich's ataxia is hypertrophic cardiomyopathy, which affects up to 85% of patients by early adulthood and is also the most common cause of death. 86 Despite the introduction of novel mouse models of Friedreich's ataxia, a reliable animal model that recapitulates the diverse clinical features of the disease seen in humans remains elusive. 87,88 Secondary Iron Overload…”

Section: Friedrich's Ataxiamentioning

confidence: 99%

Iron Metabolism in Cardiovascular Disease: Physiology, Mechanisms, and Therapeutic Targets

Sawicki

Jesus

Ardehali

2023

Circulation Research

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The cardiovascular system requires iron to maintain its high energy demands and metabolic activity. Iron plays a critical role in oxygen transport and storage, mitochondrial function, and enzyme activity. However, excess iron is also cardiotoxic due to its ability to catalyze the formation of reactive oxygen species and promote oxidative damage. While mammalian cells have several redundant iron import mechanisms, they are equipped with a single iron-exporting protein, which makes the cardiovascular system particularly sensitive to iron overload. As a result, iron levels are tightly regulated at many levels to maintain homeostasis. Iron dysregulation ranges from iron deficiency to iron overload and is seen in many types of cardiovascular disease, including heart failure, myocardial infarction, anthracycline-induced cardiotoxicity, and Friedreich’s ataxia. Recently, the use of intravenous iron therapy has been advocated in patients with heart failure and certain criteria for iron deficiency. Here, we provide an overview of systemic and cellular iron homeostasis in the context of cardiovascular physiology, iron deficiency, and iron overload in cardiovascular disease, current therapeutic strategies, and future perspectives.

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Section: Friedrich's Ataxiamentioning

confidence: 99%

Iron Metabolism in Cardiovascular Disease: Physiology, Mechanisms, and Therapeutic Targets

Sawicki

Jesus

Ardehali

2023

Circulation Research

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“…Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder that principally affects the heart and the nervous system [ 130 ]. The pathogenic mechanism of Friedreich’s ataxia at the gene level is relatively clear.…”

Section: Other Iron-related Neurological Diseasesmentioning

confidence: 99%

Iron Metabolism in Aging and Age-Related Diseases

Tian

Yuan

et al. 2022

IJMS

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Iron is a trace metal element necessary to maintain life and is also involved in a variety of biological processes. Aging refers to the natural life process in which the physiological functions of the various systems, organs, and tissues decline, affected by genetic and environmental factors. Therefore, it is imperative to investigate the relationship between iron metabolism and aging-related diseases, including neurodegenerative diseases. During aging, the accumulation of nonheme iron destroys the stability of the intracellular environment. The destruction of iron homeostasis can induce cell damage by producing hydroxyl free radicals, leading to mitochondrial dysfunction, brain aging, and even organismal aging. In this review, we have briefly summarized the role of the metabolic process of iron in the body, then discussed recent developments of iron metabolism in aging and age-related neurodegenerative diseases, and finally, explored some iron chelators as treatment strategies for those disorders. Understanding the roles of iron metabolism in aging and neurodegenerative diseases will fill the knowledge gap in the field. This review could provide new insights into the research on iron metabolism and age-related neurodegenerative diseases.

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“…On the other hand, the presence of gait ataxia, scoliosis, foot deformity is suggestive of Friedrich ataxia [62]. These manifestations may precede the occurrence of HCM, whereas diabetes mellitus is invariably delayed in the course of the illness [63]. Moreover, patients with Friedreich Ataxia exhibit a high prevalence of supraventricular arrhythmias [64].…”

Section: Diagnostic Work Up In Children and Adolescents With Hcmmentioning

confidence: 99%