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Cardiac Hypertrophy: A Comprehensive Review from Prenatal Life to Young Adulthood
Martina Avesani1, Elettra Pomiato1, Sara Moscatelli2,3
1Paediatric Cardiology Unit, Department of Woman's and Child's Health, University Hospital of Padua, 35128 Padua, Italy.
Insights
Myocardial hypertrophy (MH) in pediatric and young adults is diverse, ranging from transient conditions to genetic hypertrophic cardiomyopathies (HCM). Accurate diagnosis and personalized care are crucial for managing this complex condition.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Genetics
Background:
- Myocardial hypertrophy (MH) presents heterogeneously in pediatric and young adult populations.
- It spans physiological and pathological entities, including genetic hypertrophic cardiomyopathies (HCM) with significant risks.
- Differentiating MH from phenocopies like metabolic or syndromic diseases is critical.
Purpose of the Study:
- To provide a comprehensive overview of cardiac hypertrophy in young individuals.
- To focus on etiologies, diagnostic methods, imaging, and therapeutic strategies for MH.
- To guide clinicians in early recognition, evaluation, and personalized management of MH.
Main Methods:
- Review of current literature on myocardial hypertrophy in pediatric and young adult populations.
- Emphasis on diagnostic modalities including echocardiography and cardiac magnetic resonance (CMR).
- Inclusion of molecular diagnostics and risk stratification tools like the HCM Risk-Kids model.
Main Results:
- MH encompasses a wide spectrum, from transient neonatal hypertrophy to progressive genetic HCM.
- Echocardiography, CMR, and genetic testing are key for diagnosis and characterization.
- Risk stratification models aid decision-making but require individualized assessment.
Conclusions:
- Early recognition and comprehensive evaluation are essential for accurate diagnosis of MH.
- Multidisciplinary care and personalized treatment strategies improve outcomes.
- Understanding age-specific presentations and etiologies is vital for effective management.
Abstract:
Myocardial hypertrophy (MH) represents a complex and heterogeneous condition in the pediatric and young adult population. While rare in children, MH encompasses a wide spectrum of physiological and pathological entities, ranging from transient hypertrophy in the infants of diabetic mothers to progressive genetic hypertrophic cardiomyopathies (HCM) with significant morbidity and mortality. Differential diagnosis is critical, as many phenocopies-including metabolic, mitochondrial, and syndromic diseases-can mimic HCM. Echocardiography remains the first-line imaging modality, with cardiac magnetic resonance (CMR) and molecular diagnostics increasingly used for detailed characterization. Risk stratification tools, such as the HCM Risk-Kids model, support clinical decision-making but must be integrated with individualized assessment. Advances in prenatal screening and genetic testing have significantly improved outcomes, though long-term management requires multidisciplinary care. Understanding age-specific presentations and the underlying etiologies is essential for accurate diagnosis and targeted treatment. This review provides a comprehensive overview of cardiac hypertrophy from fetal life through young adulthood, with a focus on etiologies, diagnostic approaches, imaging modalities, and therapeutic strategies, and aims to guide clinicians through the evolving landscape of MH, emphasizing early recognition, comprehensive evaluation, and personalized care.
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