ArticleJACC. Case reports2025
Noonan Syndrome With Complex Pulmonary Stenosis at High Altitude: Impact of Delayed Diagnosis.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundNoonan syndrome is a genetic disorder affecting 1 in 1,000 to 2,500 live births, with cardiac involvement in up to 80% of cases, predominantly pulmonary valve stenosis. Socioeconomic barriers often delay diagnosis in resource-limited settings. CASE SUMMARY: A 22-year-old male presented with severe oxygen desaturation at high altitude, initially attributed to COVID-19. Clinical evaluation revealed characteristic Noonan syndrome features and a grade IV/VI systolic murmur. Cardiac imaging demonstrated severe dysplastic pulmonary stenosis with supravalvular membrane, right-to-left shunting through an atrial septal defect, and an anomalous right coronary artery. The patient underwent pulmonary valve replacement, right ventricular outflow-tract enlargement, atrial septal defect closure, and unplanned aortic valve replacement for unexpected moderate insufficiency. Despite postoperative complications, 4-year follow-up showed excellent outcomes.
conclusionThis case illustrates how high-altitude physiology exacerbates right-to-left shunting in congenital heart disease and highlights how socioeconomic barriers delay critical interventions, emphasizing the need for improved healthcare accessibility in marginalized populations.
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