Harrison's PodClass: Internal Medicine Cases and Board Prep Ep 156: A 24-Year-Old Man with Noonan Syndrome and a Heart Murmur
Jul 24, 2025
Delve into a fascinating case of a 24-year-old man with Noonan syndrome facing new-onset dyspnea. Discover the nuances of congenital heart disease and the various murmurs associated with valvular disorders. Learn to differentiate conditions like mitral regurgitation and aortic stenosis through physical exam findings. Plus, explore the common cardiac issues linked to Noonan syndrome, especially pulmonic stenosis, highlighting symptoms, treatment options, and possible surgical interventions. It's a captivating blend of patient stories and medical insights!
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Noonan Syndrome Overview
- Noonan syndrome is an autosomal dominant genetic disorder with typical facial features and congenital heart disease.
- Mutations in the PTPN11 gene are linked to about half of Noonan syndrome cases.
Pulmonic Stenosis in Noonan Syndrome
- Pulmonic stenosis is the most common cardiac valvular abnormality in Noonan syndrome.
- It manifests as a mid-systolic murmur at the left second intercostal space with an ejection click.
Murmur Localization and Characteristics
- Different heart murmurs localize to specific valve disorders and locations.
- Mitral regurgitation has a holosystolic murmur at the apex radiating to axilla; pulmonic stenosis is a mid-systolic murmur at the left second intercostal space.
