- Discussion:
- cardiovascular manifestations cause 90% of the deaths;
- major abnormality is dilatation of the ascending aorta, which usually begins in the intrapericardial portion and extends into or beyond
aortic arch;
- dilatation at level of valve may result in aortic regurgitation;
- dilatation is progressive & precedes aortic dissection & rupture;
- mitral regurgitation secondary to mitral valve prolapse may also occur, and cardiac arrhythmias have been implicated as a cause of death
