Case Report: Biventricular Hypertrophic Obstructive Cardiomyopathy in a Patient with Noonan Syndrome
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Abstract
Background: Noonan Syndrome (NS) is a genetic condition that presents with characteristics such as short stature, distinctive facial features, and congenital heart issues. Its occurrence is estimated to be between 1 in 1,000 and 1 in 2,500 live births. The syndrome follows an autosomal dominant inheritance pattern. In around 50% of cases, NS is linked to missense mutations in the PTPN11 gene located on chromosome 12, which leads to the abnormal activation of the SHP-2 non-receptor-type protein tyrosine phosphatase.
Case summary: We are presenting a case of a 17-yearold male diagnosed with Noonan syndrome associated with a mutation in the PTPN11 gene. He was initially followed by pediatric cardiology due to a heart murmur and was diagnosed with non-obstructive Hypertrophic Cardiomyopathy (HCM) 13 years ago. A year back, he transitioned to adult cardiology, where he was found to have biventricular obstructive cardiomyopathy.
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