Echocardiography should be performed at frequent intervals to monitor the status of the ascending aorta.
Yearly examinations are sufficient with relatively small aortic dimensions and slow rates of aortic dilatation.
More frequent examinations are indicated in any of the following situations:
The aortic root exceeds about 4.5 centimeters in adults.
The rate of aortic growth exceeds about 0.5 cm per year.
Significant aortic regurgitation occurs.
The entire aorta should be imaged every few years, as the incidence of aneurysms in other portions of the aorta may be as high as 20%.
After repair of the ascending aorta, the remaining portion of the aorta needs to be routinely imaged for enlargement of the distal aorta, whether the individual had a type A dissection initially or underwent prophylactic repair of the ascending aorta.
Periodic imaging of the cerebral circulation in individuals with a TGFBR2 to evaluate for cerebral aneurysms is recommended as these aneurysms may occur later in life.
Hemodynamic stress. Medications that reduce hemodynamic stress, such as beta adrenergic blocking agents, are routinely prescribed for individuals with the Marfan syndrome, and similar treatment is recommended for individuals with TAAD [Shores et al 1994]. Aortic dissection is exceedingly rare in early childhood, but aortic dilatation may be present in childhood. Medical therapy should be considered in children and adults with aortic dilatation.
Hypertension should be aggressively treated and controlled in individuals with TAAD.
Prophylactic surgical repair of the aorta to prevent subsequent dissection or rupture is indicated in any of the following situations
When the rate of dilation approaches 1.0 cm per year
When aortic regurgitation progresses
For individuals with TAAD caused by TGFBR2 mutations before the diameter of the ascending aorta reaches 5.0 cm
For those with bicuspid aortic valve (BAV) when the diameter of the ascending aorta is 5.0 cm
For all others with TAAD, when the diameter of the ascending aorta is between 5.0 cm and 5.5 cm
More recently, a valve-sparing procedure has been developed that precludes the need for chronic anticoagulation [David et al 1999].
More aggressive surgical repair may be indicated for individuals with a of aortic dissection without significant aortic root enlargement and in individuals with TGFBR2 mutations.
You can see that this watchful waiting and action when indicated pathway is very similar to other things we do, including BRCA positive surveillance options. This is why genomic medicine will win in the end. We will catch those who have these horrible time bombs and help prevent them. In my mind that is a home run every time. Will testing take place before a good family history? Only if we don't have the skilled manpower to take good histories and physicals.......
The Sherpa Says: I just discovered another one of these families last week. I will say it again and again. You miss 100% of putts you leave short. I.E. if you don't look, you never find.