A Family Study of Aortic Stenosis.

Congenital aortic stenosis is no longer only an anatomical diagnosis, but also a haemodynamic one, since it is now possible to measure pressure gradients between the left ventricle and the ascending aorta. Not every anatomical abnormality causes a significant obstruction to the blood flow from the left ventricle. Anatomically three types can be distinguished. (i) Supravalvar, in which there is a narrowing of the aorta I-3 cm. beyond the aortic valves. (2) Valvar, in which there may be partial fusion of all commissures or total fusion of i commissure: this often causes the valve to appear bicuspid. (3) Subvalvar: this may be a fibrous ring or a diaphragm below valve level or a diffuse muscular narrowing of the left ventricular outflow tract. Infants with aortic stenosis often present with heart failure, and sudden death or death from left heart failure is not uncommon. In older children symptoms are found related to insufficient coronary or body circulation on exertion, such as attacks of pain in the chest or abdomen, dizziness, syncope, pain in the legs, and tiredness at the end of the day. The presence of symptoms indicates a severe degree of stenosis. All patients have a systolic murmur. A minority (io %'according to Keith, Rowe, and Vlad, I958) have a diastolic murmur suggesting some degree of incompetence. Often a thrill is felt. A systolic ejection click is considered to indicate a valvar stenosis. In children, the heart commonly appears normal on radiography unless there is aortic incompetence or cardiac failure. Enlargement of the ascending aorta suggests a post-stenotic dilatation. The electrocardiogram often, but not always, shows features suggesting left ventricular hypertropy. Sometimes ST segment and T-wave changes are present constituting a so-called strain pattern. The most common associated cardiac abnormalities are coarctation of the aorta and patent ductus arteriosus. Less frequent are abnormalities of the mitral, tricuspid, and pulmonary valves. Fibro-