AI Article Synopsis
- It’s crucial to consider that heart defects may have a genetic syndrome cause, especially when there are other physical anomalies.
- A case study is presented of a patient with atrial fibrillation who had an abnormal mitral valve and a congenital aneurysm of the left atrial appendage, showing signs of both Cardiofaciocutaneous and Noonan syndromes.
- The left atrial appendage aneurysm is a new finding for both syndromes, and the report discusses diagnostic factors based on the patient’s genetic makeup and symptoms, along with treatment options.
Article Abstract
It is important to recognize the possibility of a syndromic etiology of cardiac defects when dysmorphic features and other congenital defects are present. We report a patient who presented with atrial fibrillation and was found to have an abnormal mitral valve, congenital aneurysm of the left atrial appendage, and features consistent with both Cardiofaciocutaneous syndrome and Noonan syndrome. The congenital aneurysm of the left atrial appendage was a previously unreported cardiac presentation for either syndrome. Diagnostic considerations based upon his genotype and phenotype are discussed, along with his unique cardiac presentation and treatment.
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| http://dx.doi.org/10.1111/j.1747-0803.2009.00329.x | DOI Listing |
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