Key result
Toddler with HCM develops severe persistent cytolysis syndrome despite hemodynamic stability.
Case Report (n=1)
No
A case of pediatric hypertrophic cardiomyopathy presenting with severe, persistent cytolysis syndrome highlights the need for extensive differential diagnosis and careful monitoring despite stable hemodynamics.
Alerts clinicians to cytolysis in stable pediatric HCM; single case leaves open prevalence and management.
Hypertrophic cardiomyopathy is the second most frequent cardiomyopathy in children and it counts as a genetic disorder for a high number of cases, with widely variable clinical presentation. The disease can be recognized in all age groups and has an unpredictable prognosis, especially if undiagnosed on time. We present the case of a two and a half years old male toddler diagnosed at territorial level with systolic heart murmur, who manifested mild fatigue, whose echocardiographic examination showed obstructive hypertrophic cardiomyopathy and restrictive atrial septal defect. Laboratory findings revealed a severe, progressive cytolysis syndrome, with negative genetic tests for Duchenne muscular dystrophy and type II glycogen storage disease -Pompe disease. Haematological tests excluded a pathology in this section and the serology for viruses with liver tropism was negative. The particularity of this case lies in the discrepancy between severe cytolysis syndrome and clinical oligosymptomatic presentation.
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Al-Akel et al. (2017) conducted a case report in Hypertrophic cardiomyopathy and severe cytolysis syndrome (n=1). Propranolol and hepatoprotective drugs was evaluated. A 2.5-year-old male with hypertrophic cardiomyopathy presented with a severe, persistent cytolysis syndrome despite an oligosymptomatic clinical presentation and hemodynamic stability.
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