{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T16:55:25Z","timestamp":1774284925010,"version":"3.50.1"},"reference-count":175,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T00:00:00Z","timestamp":1774224000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Growth impairment is a clinical manifestation frequently observed in pediatric patients with cardiomyopathy associated with various inherited disorders, including RASopathies, lysosomal storage diseases, neuromuscular disorders, and metabolic conditions. In this narrative review, we explored the genetic and pathophysiological mechanisms underlying the development of both growth and myocardial impairment in Noonan syndrome (NS)\u2014the most common RASopathy\u2014Duchenne and Becker muscular dystrophies, Pompe disease, mucopolysaccharidoses, and mitochondrial diseases. For each condition, we described the cardiac and growth phenotypes, focusing on epidemiology, clinical implications, and disease-specific therapeutic strategies. In the era of precision medicine, innovative etiologic treatments targeting the underlying molecular mechanisms have emerged. Therefore, elucidating the molecular pathways responsible for growth impairment in pediatric inherited cardiomyopathies remains essential for optimizing multidisciplinary management and improving patient outcomes.<\/jats:p>","DOI":"10.3390\/genes17030355","type":"journal-article","created":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T15:54:53Z","timestamp":1774281293000},"page":"355","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-4865-2522","authenticated-orcid":false,"given":"Marco Maria","family":"Dicorato","sequence":"first","affiliation":[{"name":"Cardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University of Bari \u201cAldo Moro\u201d, University Hospital Consortium, Polyclinic of Bari, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaia","family":"De Sario","sequence":"additional","affiliation":[{"name":"Giovanni XXIII Pediatric Hospital, University of Bari \u201cA. Moro\u201d, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Carella","sequence":"additional","affiliation":[{"name":"Cardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University of Bari \u201cAldo Moro\u201d, University Hospital Consortium, Polyclinic of Bari, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7133-4401","authenticated-orcid":false,"given":"Andrea Igoren","family":"Guaricci","sequence":"additional","affiliation":[{"name":"Cardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University of Bari \u201cAldo Moro\u201d, University Hospital Consortium, Polyclinic of Bari, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco Matteo","family":"Ciccone","sequence":"additional","affiliation":[{"name":"Cardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University of Bari \u201cAldo Moro\u201d, University Hospital Consortium, Polyclinic of Bari, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9452-4037","authenticated-orcid":false,"given":"Cinzia","family":"Forleo","sequence":"additional","affiliation":[{"name":"Cardiovascular Disease Section, Interdisciplinary Department of Medicine (DIM), University of Bari \u201cAldo Moro\u201d, University Hospital Consortium, Polyclinic of Bari, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"D\u2019Amato","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Di Venere Hospital, 70131 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1899-8337","authenticated-orcid":false,"given":"Maria Felicia","family":"Faienza","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari \u201cA. Moro\u201d, 70124 Bari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41390-025-03819-2","article-title":"Genomics of pediatric cardiomyopathy","volume":"97","author":"Lee","year":"2025","journal-title":"Pediatr. Res."},{"key":"ref_2","first-page":"43","article-title":"Cardiomyopathies in children: An overview","volume":"72","author":"Tsatsopoulou","year":"2023","journal-title":"Hell. J. Cardiol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Rath, A., and Weintraub, R. (2021). Overview of Cardiomyopathies in Childhood. Front. 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