An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies
Rattachement africain : it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Inborn Errors of Metabolism (IEMs) account for a significant proportion of cardiomyopathies presenting with a wide spectrum of cardiac involvement, from isolated manifestations to multisystem syndromes. The manuscript explores the primary forms of cardiac complications linked to various IEMs, underlining the pathophysiological mechanisms and proposing a diagnostic framework guided by specific clinical features. Early diagnosis, especially in forms not captured by newborn screening, relies on careful clinical and metabolic evaluation. Thus, a multidisciplinary approach to address IEMs is essential, with the paediatric cardiologist contributing to both differential diagnosis and treatment. In addition, this review examines nutritional strategies for managing patients affected by IEMs with cardiac involvement, providing clinicians with research-backed guidance to support cardiological care, since specific nutritional strategies have shown promise in reversing or improving cardiac function in specific IEMs. Further research is needed to clarify the long-term safety of dietary interventions, particularly in pediatric populations, and to better define the role of nutrition in managing cardiomyopathies associated with IEMs, in order to develop evidence-based clinical protocols.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies
- Date Crossref
- 04/12/2025
- Éditeur
- Frontiers Media SA
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Milan Department of Biomedical and Clinical Science pays non établi dans la noticeUniversité ou école supérieure
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Ospedale dei Bambini Vittore Buzzi pays non établi dans la noticeÉtablissement de santé
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Vittore Buzzi Children's Hospital Department of Pediatrics pays non établi dans la noticeÉtablissement de santé
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"Vittore Buzzi" Children's Hospital Pediatric Cardiology Unit pays non établi dans la noticeÉtablissement de santé
Department of Biomedical and Clinical Science — University of Milan, Ospedale dei Bambini Vittore Buzzi et Department of Pediatrics — Vittore Buzzi Children's Hospital, avec 1 autre affiliation.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.