Precision phenomapping of pediatric dilated cardiomyopathy using clustering models based on electronic hospital

Xihang Fu1, Zubo Wu2, Jiawei Shi3

  • 1Key Laboratory of Environment and Health, Ministry of Education & Ministry of Environmental Protection, Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, No. 13, Hangkong Road, Wuhan, Hubei 430030, China.

Insights

This study identified two distinct subtypes of pediatric dilated cardiomyopathy (PDCM). One subtype presents with milder symptoms, while the other shows severe left ventricular dysfunction and a worse prognosis, guiding tailored treatment strategies.

Area of Science:

  • Cardiology
  • Pediatric Medicine
  • Genetics

Background:

  • Pediatric dilated cardiomyopathy (PDCM) is a complex and challenging disease to manage.
  • Heterogeneity in PDCM necessitates the identification of distinct subtypes for improved clinical outcomes.

Purpose of the Study:

  • To establish clinically relevant subtypes of PDCM.
  • To evaluate the prognostic implications of identified PDCM subtypes.
  • To guide personalized treatment strategies for PDCM.

Main Methods:

  • Utilized a multicenter retrospective cohort of 279 idiopathic PDCM cases from electronic hospital records.
  • Employed six clustering models for heterogeneous data to identify PDCM subtypes, with the Kamila model selected as optimal.
  • Applied multivariable Cox models to assess the association between PDCM subtypes and adverse clinical events, and developed a clinical classifier.

Main Results:

  • Identified two optimal PDCM phenotypes: Group I (infants/toddlers, larger dimensions, mild LV systolic dysfunction) and Group II (older children, severe LV systolic dysfunction, reduced LV wall thickness, higher prevalence of valvular regurgitation/arrhythmia).
  • Group II exhibited significantly lower event-free survival compared to Group I (HR=8.096, P=0.002).
  • A conditional interference tree model with five parameters accurately distinguished between the PDCM subtypes.

Conclusions:

  • Distinct PDCM subtypes possess unique clinical profiles and varying risks of adverse prognosis.
  • These identified subtypes likely respond differently to current therapies, paving the way for precision management.
  • The findings offer novel directions for pathological studies and personalized treatment of PDCM.
Abstract