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Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study
  1. Hisham Ahamed1,
  2. Shruti Varghese2,
  3. Georg Gutajahr3,
  4. Balu Vaidyanathan2,
  5. Mahesh Kappanayil2,
  6. Navaneetha Sasikumar2,
  7. Shine Kumar2,
  8. Aparna Hari1,
  9. Malavika Krishnakumar4,
  10. Raman Krishna Kumar2
  1. 1Department of Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
  2. 2Department of Paediatric Cardiology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
  3. 3AmritaCREATE, Amritapuri, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
  4. 4Masters in Mathematics and Data Science, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
  1. Correspondence to Dr Hisham Ahamed; ahamed.hisham{at}gmail.com

Abstract

Background Infantile hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder. Apart from registries in high-income nations, there is a shortage of data on the aetiological basis of infantile HCM in low- and middle-income nations. This study attempts to characterise the phenotypic expression, genetic architecture and short-term clinical outcomes of infantile HCM from a South Asian tertiary referral centre.

Methods This study includes all infants from the Amrita HCM cohort between January 2011 and July 2021. Clinical history, ECG, echocardiographic data, and genetic analyses were evaluated.

Results 34 patients with infantile HCM were diagnosed at a median age of 3.7 months (IQR 1–6 months). Underlying aetiologies were RASopathy (n=13; 38%), non-syndromic (n=12; 35%) and inborn errors of metabolism (n=9; 27%). Genetic analysis was done in 20 patients (59%) with a yield of 90%. Clinical presentation included failure to thrive (n=29; 85%), dyspnoea on exertion (n=23; 68%) and clinical heart failure (n=24; 71%). Echo showed concentric left ventricular hypertrophy in 22 patients (65%), obstructive HCM in 11 patients (32%) and left ventricular systolic dysfunction in 6 patients (18%). The mortality rate was 10.0 deaths per 100 patient years over a median follow-up period of 3.1 years. The main risk markers for mortality were the age at diagnosis, gender and concentric Left ventricular hypertrophy.

Conclusions This cohort demonstrates the morphological, functional and genetical heterogeneity of infantile HCM, enunciating the need for integration of cardiology, metabolic and genetic services to achieve optimum outcomes in these patients.

  • Genetics
  • Cardiology
  • Paediatrics

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Footnotes

  • X @HishamAhamed3

  • Contributors HA, SV and RKK were involved in the conception and design of the study, analysis and interpretation of study data and drafting of the manuscript. AH, GG and MKr were involved in the acquisition, analysis and interpretation of data along with drafting and revising the manuscript. BV, MKa, NS and SK were involved in drafting and revising the manuscript. HA will act as the gurantee of the study.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Disclaimer We declare that AI technologies in any form have not been used in the preparation of this manuscript.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.