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A Rare Case Of Supravalvular Aortic Stenosis And Left Main Coronary Artery Stenosis In A Patient With Eln Gene Mutation by Vibha Amblihalli; George Augustine Koromia; Melissa Lynn Lefebvre; Preeti Ramachandran is a Medicine article available to read on EtoBox.
What is A Rare Case Of Supravalvular Aortic Stenosis And Left Main Coronary Artery Stenosis In A Patient With Eln Gene Mutation about?
Background: We describe a rare case of supravalvular aortic stenosis (SVAS) in a patient with an elastin (ELN) gene mutation in the absence of Williamʼs syndrome. Case: 4-year-old male with a history of severe bilateral branch pulmonary artery stenosis status post bilateral pulmonary artery patch augmentation in infancy. Patient had recently sought care at our institution. Past procedural history comprised of two episodes of hypotension and near cardiac arrest with anesthesia. Genetic testing showed a pathogenic variant in the ELN gene. The patient did not exhibit other phenotypic features of Williamʼs syndrome. Repeat echo documented SVAS with peak gradient of 20 mmHg. Due to poor cooperation with testing and limited acoustic windows, a cardiac MRI was obtained. Decision-making: Cardiac MRI demonstrated severe SVAS with peak velocity of > 4 m/s. Multiplanar reconstruction revealed a "tented" appearance of the left main coronary artery (LMCA), highly concerning for LMCA stenosis. The patient was scheduled for a patch repair of SVAS and LMCA stenosis. Conclusion: ELN related SVAS in the absence of Williams syndrome is rare. ELN mutation is associated with congenital cardiac anomalie
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- Author
- Vibha Amblihalli; George Augustine Koromia; Melissa Lynn Lefebvre; Preeti Ramachandran
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Medicine (Health Sciences)