Related Experiment Video
Updated: Jun 29, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
The outcome of genetic and non-genetic pediatric cardiomyopathies
Ali AlAlakhfash1, Luciano Agati2, Giuseppe Mazzesi3
1Pediatric Cardiology Department, Prince Sultan Cardiac Center-Qassim, Qassim Health Cluster, MOH, P O BOX 896, 51421, Buraydah, Saudi Arabia. Akhfash@yahoo.com.
Insights
Pediatric cardiomyopathy mortality reaches 40%, with hypertrophic cardiomyopathy (HCM) and low ejection fraction (EF) in dilated cardiomyopathy (DCM) being high-risk factors. Genetic testing is recommended for all pediatric cardiomyopathy patients and their families.
Area of Science:
- Pediatric Cardiology
- Genetics
- Cardiovascular Research
Background:
- Pediatric cardiomyopathies (CMP) are increasingly linked to genetic mutations.
- This study reviews pediatric CMP cases from January 2011 to May 2020.
- Patient data included CMP type, age, and ejection fraction (EF).
Purpose of the Study:
- To analyze the genetic basis and outcomes of pediatric cardiomyopathy.
- To identify risk factors for mortality in pediatric CMP.
- To evaluate the role of genetic testing in CMP management.
Main Methods:
- Retrospective single-center review of 229 pediatric CMP patients.
- Classification by CMP type, age at presentation, and EF.
- Univariate, multivariate, ROC, and survival curve analyses were performed.
Main Results:
- Dilated cardiomyopathy (DCM) was most common (70%), followed by hypertrophic cardiomyopathy (HCM) (26.2%).
- Genetic/metabolic disorders identified in 21.4%, notably VLCAD and ELAC2 defects.
- Overall mortality was 38.4%; mortality was higher in HCM patients, especially those with genetic abnormalities.
Conclusions:
- Pediatric CMP mortality is up to 40%, with higher rates in HCM and DCM with EF ≤20%.
- Early presentation (≤6 months) is a risk factor for mortality in HCM.
- Whole-exome/genome sequencing is recommended for all CMP patients and at-risk relatives.
Background:
Pediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective single-center review of cardiomyopathy patients from January 2011 to May 2020. Results of the genetic study, as well as the outcome, were reported. Patients were divided according to the type of CMP, age of presentation, and EF at presentation. Univariate and multivariate analysis and ROC and survival curves were done.
Results:
We reported 229 patients under 14 years of age with a diagnosis of cardiomyopathy, most commonly DCM (160 patients (70%)) followed by HCM (26.2%). 52% presented at 6 months of age or less and 119 (52%) required ICU admission at presentation. The genetic and or metabolic disorder was confirmed in 21.4% of patients, most commonly VLCAD defect (16, 7%) and ELAC2 gene defect (10, 4.4%). During the disease course, 88 patients (38.4%) died (48 with DCM, 39 with HCM, and 1 with RCM). An EF of 20% or less at presentation and presentation at 6 months of age or less carries a risk for mortality in patients with DCM and HCM, respectively (RR 3.88 and 2.06 and OR of 11.09 and 4.35, respectively). Death was more common among HCM patients especially patients with positive genetic abnormality compared with patients with DCM.
Conclusions:
The mortality for CMP in children reaches up to 40%, (30% in DCM and 65% in HCM patients). Mortality was higher in those with HCM, DCM with EF of 20% or less, and HCM presented at 6 months of age or less. Whole-exome and/or whole-genome sequencing is advised for all patients of CMP and at-risk family members.
Related Concept Videos
01:17Pathophysiology of Heart Failure
01:29Pathophysiology of Cardiac Performance
01:35Pedigree Analysis