# Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies

## TL;DR

This paper reviews genetic causes of growth and heart issues in children with inherited disorders, focusing on molecular mechanisms and new treatments.

## Contribution

The paper provides a detailed analysis of molecular pathways and therapeutic strategies for growth impairment in pediatric cardiomyopathies.

## Key findings

- Growth impairment is linked to inherited disorders like RASopathies and metabolic diseases.
- Precision medicine offers new treatments targeting molecular mechanisms in pediatric cardiomyopathies.

## Abstract

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)—the most common RASopathy—Duchenne 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.