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