What is the clinical evidence from this study?

Study design: Cohort. Population: Childhood cardiomyopathy (n=317). Intervention: Restrictive cardiomyopathy (RCM) vs. Dilated cardiomyopathy (DCM). Primary outcome: 5-year survival rate (p=0.0215).

January 2, 2024Open Access

The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study

Key Result

Restrictive cardiomyopathy in children was associated with a significantly lower 5-year survival rate (51.1%) compared to dilated cardiomyopathy (75.5%), with NYHA/Ross class III or IV acting as a major predictor of mortality.

Study Design

Type

Cohort (n=317)

Multicenter

Structured PICO

Population

317 children aged 18 years or younger with cardiomyopathy (DCM, HCM, LVNC, or RCM) were followed for up to 10 years to evaluate clinical characteristics, genetic mutations, and prognostic factors for mortality.

Outcome

Cardiac death at up to 10 years follow-uphard clinical

Childhood cardiomyopathy, particularly restrictive cardiomyopathy, is associated with high mortality, and advanced NYHA/Ross class is a strong independent predictor of death.

Main Result

Absolute Event Rate: 51.1% vs 75.5%

p-value: p=0.0215

Limitations

Relatively small sample size recruited from a single medical center
Retrospective design introduces potential biases
Diagnosis based on clinical and echocardiographic findings without cardiac catheterization or histological examination
Genetic analysis was only performed in a subset of patients, potentially underestimating the association between genetic factors and cardiomyopathy

Abstract

Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases in children. This study aimed to identify demographic features, clinical presentation and prognosis of children with CM. Clinical characteristics and prognostic factors associated with mortality were evaluated by Cox proportional hazards regression analyses. Genetic testing was also conducted on a portion of patients. Among the 317 patients, 40.1%, 25.2%, 24.6% and 10.1% were diagnosed with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction cardiomyopathy (LVNC) and restrictive cardiomyopathy (RCM), respectively. The most common symptom observed was dyspnea (84.2%). Except for HCM, the majority of patients were classified as NYHA/Ross class III or IV. The five-year survival rates were 75.5%, 67.3%, 74.1% and 51.1% in DCM, HCM, LVNC and RCM, respectively. The ten-year survival rates were 60.1%, 56.1%, 57.2% and 41.3% in DCM, HCM, LVNC and RCM, respectively. Survival was inversely related to NYHA/Ross class III or IV in patients with DCM, HCM and RCM. Out of 42 patients, 32 were reported to carry gene mutations. CONCLUSIONS: This study demonstrates that CM, especially RCM, is related to a high incidence of death. NYHA/Ross class III or IV is a predictor of mortality in the patients and gene mutations may be a common cause. TRIAL REGISTRATION: MR-50-23-011798. WHAT IS KNOWN: • Cardiomyopathy (CM) is a heterogeneous group of myocardial diseases and one of the leading causes of heart failure in children due to the lack of effective treatments. • There remains scarce data on Asian pediatric populations though emerging studies have assessed the clinical characteristics and outcomes of CM. WHAT IS NEW: • A retrospective study was conducted and the follow-up records were established to investigate the clinical characteristics, the profile of gene mutations and prognostic outcomes of children with CM in Western China. • CM, especially RCM, is related to a high incidence of death. NYHA/Ross class III or IV is a predictor of mortality in the patients and gene mutations may be a common cause.

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