Key result
Extended septal myectomy with Alfieri repair lowers LVOT gradient by ~69 mmHg in LEOPARD syndrome.
Case Report (n=1)
No
Surgical correction via extended septal myectomy and mitral valve repair is feasible and effective for reducing severe LVOT obstruction and symptoms in pediatric patients with LEOPARD syndrome.
May support surgical LVOT relief in rare pediatric LEOPARD-HCM; leaves open need for larger series before wider adoption.
Highlights This review describes a rare clinical case of hypertrophic cardiomyopathy in a teenager with LEOPARD syndrome. Abstract Hypertrophic cardiomyopathy (HCM) is a genetically determined cardiac disease which can be caused by nearly 1500 genetic mutations, encoding proteins of the cardiac sarcomere and some non-sacromeric proteins. There is a number of hereditary metabolic disorders and diseases which can imitate phenotype and clinical picture of HCM. Abnormalities with systemic symptoms are usually identified as a syndrome, including hypertrophic myocardium signs. Such abnormalities are regarded to the RASopathies, a group of phenotypically similar genetic syndromes. Nowadays RASopathies include 1-type neurofibromatosis, Noonan syndrome, LEOPARD syndrome, Costello syndrome, Legius syndrome, cardiofaciocutaneous syndrome, and capillary malformation-arteriovenous malformation syndrome.
No takes yet. Share an insight, caveat, or question.
Kulavskaya et al. (2024) conducted a case report in Hypertrophic cardiomyopathy in LEOPARD syndrome (n=1). Extended septal myectomy and Alfieri edge-to-edge mitral valve repair was evaluated on LVOT peak pressure gradient and clinical status. Extended septal myectomy and Alfieri mitral valve repair reduced LVOT gradient from 89 to 20 mmHg and improved symptoms in a 15-year-old male with LEOPARD syndrome and severe HCM.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: