Cardiovascular abnormalities in the relatives of patients operated upon for annulo-aortic ectasia. A clinical and echocardiographic study of 40 families.

This study is based on 40 consecutive patients operated on for annuloaortic ectasia at the Turku University Central Hospital between March 1970 and April 1983. Supracoronary graft insertion was used in the first nine patients, while the remaining patients were treated by radical repair using a composite graft and reimplantation of the coronary ostia. The mean age of the patients was 40.3 years (10 to 66 years). The patients were examined postoperatively for their physical, radiological, and ophthalmological parameters. Eight had the classic Marfan syndrome. The patients had 230 first-degree relatives, and 200 of them were alive. Three of the 30 deceased relatives had died due to rupture of an ascending aortic aneurysm; 187 of the living relatives were examined as above. In addition, echocardiography was performed. Twenty-six of the surviving relatives had dilatation of the aortic root; 24 were siblings, and two were children of the operated patients. Echocardiography of the relatives revealed an increased incidence of mitral valve prolapse and enlargement of the left ventricle and left atrium. None of the relatives examined had the classic Marfan syndrome, although the incidence of some Marfan features occurred more frequently in the Marfan families. It seems clear that annuloaortic ectasia, even without the Marfan syndrome, is a hereditary disease. To detect annuloaortic ectasia at an early stage, examination of the first-degree relatives of patients operated upon is recommended.