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Contemporary review on pediatric hypertrophic cardiomyopathy: insights into detection and management

Areez Shafqat1, Abdullah Shaik1,2, Snygdha Koritala3

  • 1College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

Frontiers in Cardiovascular Medicine
|January 22, 2024
PubMed

Insights

Pediatric hypertrophic cardiomyopathy (HCM) management is evolving, with revised screening, diagnosis, and risk assessment. This review addresses key uncertainties in pediatric HCM, focusing on genetic and imaging factors for better risk prediction and treatment.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatric Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disorder, characterized by left ventricular (LV) hypertrophy.
  • Recent guideline revisions have impacted pediatric HCM screening, diagnosis, and management protocols.
  • New individualized risk assessment models, such as HCM Risk-kids and PRIMaCY, have been introduced for pediatric sudden cardiac death (SCD) risk.

Purpose of the Study:

  • To explore and highlight current uncertainties in pediatric HCM that require further investigation.
  • To discuss the need for updated screening, diagnostic, and management strategies for pediatric HCM.
  • To identify areas for improvement in risk stratification and treatment of pediatric HCM patients.

Main Methods:

  • Review of current guidelines and literature on pediatric hypertrophic cardiomyopathy.
  • Analysis of divergent international recommendations regarding cardiac MRI (CMR) in HCM.
  • Exploration of genetic and imaging parameters for enhanced risk assessment models.

Main Results:

  • Significant revisions in pediatric HCM guidelines include screening age, CMR's diagnostic role, and SCD risk models.
  • Divergent recommendations exist for CMR use in screening and diagnosis between American and European guidelines.
  • There is a need to integrate genetic and imaging data into existing risk models like HCM Risk-kids and PRIMaCY.

Conclusions:

  • Further research is needed to resolve discrepancies in CMR recommendations and optimize risk prediction in pediatric HCM.
  • Quantifying myocardial fibrosis and its prognostic value for SCD prediction in pediatric HCM requires further study.
  • Development of genotype- and phenotype-based exercise guidelines and exploring heart failure medications for cardiac remodeling reversal are crucial next steps.

Keywords:
cardiac MRIexercisehypertrophic cardiomyopathylate gadolinium enhanced (LGE)myocardial fibrosissudden cardiac death

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