Sinus of Valsalva Aneurysm: A Potential Case of Filamin A Mutation

Filamin A is a protein essential for cytoskeleton production, encoded by the X-lined dominantly inherited FLNA gene. deficiency in filamin can lead to cardiac valvular dysplasia and periventricular nodular heterotopia brain. Notably, Type 1 has associations with cardiovascular abnormalities. We report case of 40-year-old woman who visited emergency department due shortness breath, intermittent desaturation, vertigo. Initial diagnostic procedures unexpectedly identified sinus Valsalva aneurysm on computed tomography scan thorax MRI brain revealed subependymal nodules lateral ventricles, suggesting an mutation. Multimodal imaging, including transesophageal echocardiogram, confirmed aortic root diagnosis. Consequently, patient underwent prophylactic resection valve replacement surgery. This underscores importance multidisciplinary teamwork diagnosing devising comprehensive treatment plan. Cardiovascular screening patients known function loss might be advantageous. Similarly, genetic testing family members could help anticipate disease's progression suggest interventions like resection.