Late Diagnosis of Noonan Syndrome Presenting With Infective Endocarditis: A Multidisciplinary Challenge in an Underserved Population.
Nur Farhanah, Jessica Novia Hadiyanto, Sefri Noventi Sofia et al.
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Case in brief
A 29-year-old woman from a rural area presented with severe respiratory distress, weight loss, and new cardiac murmurs. Examination revealed dysmorphic features indicative of Noonan syndrome. Echocardiography showed severe mitral regurgitation and mobile vegetations, consistent with blood culture-negative infective endocarditis. After multidisciplinary management, including antibiotics and heart failure therapy, she improved and was discharged with plans for elective valve surgery.
Diagnostic / clinical pearl
Clinicians should consider Noonan syndrome in patients with dysmorphic features and cardiac symptoms, as it can lead to serious complications like infective endocarditis.
Why it matters
This case underscores the importance of early diagnosis and multidisciplinary management in preventing advanced cardiac complications in underserved populations.