Turner's syndrome: Cardiologic profile according to the different chromosomal patterns and long-term clinical follow-up of 136 nonpreselected patients

The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni . There are few studies about the different cardiologic problems stemming f rom different chromosomal patterns of X monosomies. We reviewed a large ser ies of 136 patients with Turner syndrome without cardiologic preselection, 29 of whom had some kind of CHD (21.5%). Partial anomalous pulmonary venous drainage (PAPVD; 2.9%), aortic valve disease (stenosis and/or incompetence ) (AoVD; 5.1%), aortic coarctation (AoCo; 4.4%), and bicuspid aortic valve (BicAo; 14.7%) are much more. frequent in Turner's syndrome than in the nor mal population, with the difference being statistically highly significant. In our cases, only the 45, X subjects showed severe CHD and multiple lesio ns, whereas the X-ring pattern was associated with an elevated prevalence o f BicAo. Patients with X-deletion showed no signs of congenital heart malfo rmations. Eleven patients, all with 45, X pattern, and significant CHD, und erwent cardiac surgery at a mean age of 7.7 +/- 5.3 years (range 7 days-18 years) without complications. At follow-up of 3-18 years (8.6 +/- 5.2), we were unable to observe any type of evolution of the remaining untreated car diovascular anomalies.