A case report: Short-term safety and management pathway of growth hormone therapy in a LEOPARD Syndrome child without baseline cardiomyopathy

The use of recombinant human growth hormone (rhGH) in LEOPARD syndrome (LS) is highly controversial due to concerns about potential induction of hypertrophic cardiomyopathy (HCM). Prospective safety data are scarce. A 7-year-old girl with genetically confirmed LS (PTPN11 c.1403C > T) and significant short stature, but normal cardiac structure, received rhGH after multidisciplinary review. After 12 months of therapy, height velocity increased from 4.8 to 11.0 cm/year. Serial echocardiograms showed stable, normal ventricular wall thickness (IVSd Z -score: +0.5 to +0.6; LVPWd Z-score: +0.4 to +0.5) with no signs of HCM. All metabolic parameters remained normal. This prospective case suggests that, under rigorous cardiac screening and close monitoring, short-term rhGH may be a feasible option to improve growth in selected LS patients without pre-existing HCM. It provides a practical management framework and highlights the need for long-term safety registries. • First prospective safety data of rhGH in LEOPARD syndrome without cardiomyopathy. • No cardiac remodeling after 12 months of rhGH in a genetically confirmed case. Provides a practical monitoring framework for clinicians. • Supports cautious rhGH use in selected patients with normal baseline hearts.