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Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a

Hisham Ahamed1, Shruti Varghese2, Georg Gutajahr3

  • 1Department of Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India ahamed.hisham@gmail.com.

Archives of Disease in Childhood
|July 10, 2024
PubMed

Insights

Infantile hypertrophic cardiomyopathy (HCM) is diverse, with RASopathy, non-syndromic causes, and metabolic errors being common in South Asia. Early diagnosis and integrated care improve outcomes for affected infants.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Infantile hypertrophic cardiomyopathy (HCM) is a complex heart condition with limited data from low- and middle-income countries.
  • This study addresses the gap by investigating infantile HCM in a South Asian population.

Purpose of the Study:

  • To characterize the phenotypic presentation, genetic basis, and short-term outcomes of infantile HCM.
  • To provide insights into the aetiological landscape of this condition in a South Asian tertiary referral center.

Main Methods:

  • Analysis of the Amrita HCM cohort (January 2011 - July 2021).
  • Evaluation of clinical history, ECG, echocardiography, and genetic analyses in infants diagnosed with HCM.

Main Results:

  • 34 infants diagnosed with infantile HCM; common aetiologies included RASopathy (38%), non-syndromic (35%), and inborn errors of metabolism (27%).
  • Genetic analysis in 20 patients yielded a 90% success rate. Common presentations were failure to thrive, dyspnoea, and heart failure.
  • Echocardiography revealed concentric left ventricular hypertrophy (65%) and obstructive HCM (32%). Mortality rate was 10.0 deaths per 100 patient-years, with age at diagnosis, gender, and LVH as risk factors.

Conclusions:

  • Infantile HCM exhibits significant morphological, functional, and genetic heterogeneity.
  • Integrated care involving cardiology, metabolic, and genetic services is crucial for optimizing outcomes in infantile HCM patients.
Abstract

Keywords:
CardiologyGeneticsPaediatrics

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