Highlights the risk of sudden cardiac death in LEOPARD syndrome with severe non-obstructive hypertrophic cardiomyopathy and discusses the need for prophylactic risk stratification.
Raises SCD caution in LEOPARD syndrome with severe non-obstructive HCM; leaves open optimal prophylactic risk stratification.
We report the sudden cardiac death of a young male presenting with classic clinical features of LEOPARD syndrome, shown to be due to a mutation in the PTPN11 gene, and severe non obstructive hypertrophic cardiomyopathy. We also discuss briefly the usefulness of prophylactic risk stratification in patients with syndromic and non syndromic hypertrophic cardiomyopathy.
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Limongelli et al. (2006) studied this question.
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