Congenital unruptured aneurysm of sinus of Valsalva, quadricuspid aortic valve, and ascending aortic aneurysm associated with genetic leukoencephalopathy in an infant: A new syndrome?

We report a 15‐month‐old female with unruptured noncoronary sinus of Valsalva anreurysm ( SOVA ) associated with quadricuspid aortic valve, ascending aortic aneurysm ( AAA ), moderate aortic insufficiency, mild mitral insufficiency, genetic leukoencepaholpathy, developmental delay and mild mixed aminoaciduria. She was referred for evaluation of a cardiac murmur. Initial echocardiographic examination showed the aneurysm as a round cyst in the right atrium which changed in size during systole and diastole. As to the best of our knowledge, this is the first report of association of SOVA , quadricuspid aortic valve, AAA and genetic leukoencephalopathy in an infant. These associations may suggest a new syndrome. We describe the echocardiographic and computed tomographic angiography findings. We also review 641 cases in the literature and the current six classification systems for SOVA .