Introduction: Dilated cardiomyopathy (DCM) is a relatively rare manifestation of pediatric heart failure. Despite recent diagnostic advancements and expanded screening modalities, the underlying cause of DCM remains elusive in over 50% of pediatric cases. We report the case of a 1-year-old girl presenting with newly diagnosed, rapidly progressive dilated cardiomyopathy, caused by a novel, rare homozygous pathogenic variant in the PPP1R13L gene. Case presentation: The patient, with no significant family history of cardiac disease, previously asymptomatic and in good health, presented with a 2-day history of nausea, vomiting, difficulty breathing, and low urine output, following a recent respiratory infection. The echocardiography identified a dilated left ventricle (Z score > +2 for age) and severe systolic left ventricular dysfunction, and a positive diagnosis of dilated cardiomyopathy was confirmed by the cardiac magnetic resonance (CMR). Genetic testing identified a homozygous pathogenic variant in the PPP1R13L gene, classified as a novel pathogenic variant that encodes the inhibitor of apoptosis-stimulating protein of p53 (iASPP). Despite targeted treatment, the severe systolic dysfunction persisted, and the general state progressively deteriorated and warranted the need for a cardiac transplant, which she underwent one year following the initial diagnosis. Conclusions: Patients diagnosed with underlying genetic DCM, particularly those harboring PPP1R13L mutations, carry an exceedingly poor prognosis in the absence of orthotopic heart transplantation. Existent case reports confirm that disruptions in this gene predictably yield highly aggressive, life-threatening cardiomyopathies.

Introduction: Determining the prognosis and probable evolution of dilated cardiomyopathy (DCM) in pediatric patients has been an area of interest in the literature over the years. The aim of this study was to investigate baseline clinical, laboratory, and echocardiographic parameters associated with early ventricular recovery during hospitalization in children with dilated cardiomyopathy. Materials and methods: A retrospective, observational, single-center study was conducted including 56 pediatric patients diagnosed with DCM between 2015 and 2025. Baseline clinical and paraclinical variables were collected at admission. Changes in the left ventricular ejection fraction were assessed during hospitalization, and patients were categorized into recovery and non-recovery groups. Statistical analysis was performed to identify independent predictors of early ventricular recovery. Results: Early ventricular recovery occurred in 25 (44.64%) patients. In multivariate logistic analysis, Ross functional class was the only independent marker associated with early ventricular recovery (OR 2.547, 95% CI 1.179–5.501; p = 0.017). Bootstrap validation confirmed the robustness of the association. Troponin, NT-proBNP, mitral regurgitation and treatment strategy were not independently associated with recovery. ROC analysis demonstrated a modest discriminatory performance for the Ross functional class. Discussion: In this cohort of children with DCM, symptom severity was the only baseline variable consistently associated with early ventricular recovery. Clinical assessment was more useful than laboratory biomarkers and echocardiographic parameters in predicting short-term improvement in ventricular function. Conclusions: The Ross functional class was the only baseline variable independently associated with early ventricular recovery. These findings support the use of the Ross functional classification as a simple bedside tool, useful in early prognostic stratification in children with dilated cardiomyopathy, although its discriminatory performance was modest.