Congenital Anomalies of the Aortic Root

Harma K. Turbendian, MD, Neil Venardos, MD, James Jaggers, MD


Anomalies of the aortic root in children include:

  1. aneurysmal dilation secondary to connective tissue disorders,
  2. sinus of Valsalva aneurysm and associated fistula, and
  3. aortico-left ventricular tunnel.

The most common connective tissue disorder resulting in aortic root aneurysm [1] is Marfan syndrome. Ehlers-Danlos syndrome and Loeys-Dietz syndrome are less common disorders that result in a very similar aortic root phenotype. Medical therapy has some efficacy in limiting the rate of aortic dilation, but surgery is the definitive intervention once the indications of aortic root size and/or rate of root diameter increase are met. In most patients, the aortic valve and valve function are normal, and a valve sparing aortic root replacement can be performed. In some cases, the valve may be insufficient and require repair or replacement along with therapy for the aorta. Standard repair techniques apply and aortic root replacement, usually with a Bentall procedure, is recommended. Mid and long term outcomes are excellent for both procedures in the appropriately selected patient.

Sinus of Valsalva aneurysm (SOVA) [1] is a rare condition initially described in 1839. Aneurysmal dilation can lead to perforation of the sinus resulting in a fistulous communication to essentially any chamber of the heart. This may lead to acute onset congestive heart failure. Indications for intervention include the presence of significant dilation, fistula formation, or aortic valve insufficiency. Surgical repair consists of patch reconstruction of both the involved aortic sinus and the involved cardiac chamber. Aortic valve insufficiency may necessitate valve repair or replacement in certain circumstances.

Aortico–left ventricular tunnel (ALVT) [2] is an extremely rare condition consisting of a paravalvular channel between the aortic root and left ventricular cavity. It represents 0.001 percent of all congenital cardiac anomalies, and is often associated with myocardial developmental disorders including ventricular non-compaction syndrome. Clinical presentation is related to the size of the communication and the degree of aortic valve insufficiency. Surgical intervention is almost always indicated.

There's more to see -- the rest of this topic is available only to subscribers.

Last updated: September 10, 2021