Congenital unruptured aneurysm of sinus of Valsalva, quadricuspid aortic valve, and ascending aortic aneurysm associated with genetic leukoencephalopathy in an infant: A new syndrome?
Elaheh Malakan RadHamidreza PouraliakbarPublished in: Echocardiography (Mount Kisco, N.Y.) (2017)
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.
Keyphrases
- aortic valve
- aortic aneurysm
- coronary artery
- aortic stenosis
- pulmonary artery
- transcatheter aortic valve replacement
- left ventricular
- aortic valve replacement
- transcatheter aortic valve implantation
- mitral valve
- genome wide
- left atrial
- pulmonary hypertension
- middle cerebral artery
- healthcare
- systematic review
- copy number
- computed tomography
- case report
- ejection fraction
- heart failure
- optical coherence tomography
- high intensity
- dna methylation
- coronary artery disease