Clinical findings consistent with aortic stenosis,
possibly associated with mild regurgitation and left ventricular
hypertrophy. ECG may show left ventricular hypertrophy, left axis deviation,
or left bundle branch block. Radiographic examination characteristically
shows severe tubular calcification of the ascending aorta and aortic valve.
Cases described have not shown aortic dilatation. Echocardiographic and
cardiac catheter studies may reveal the aortic stenosis and regurgitation
across a tricuspid aortic valve. History, examination, and investigations
must exclude other causes of aortitis and aortic calcification, for example,
syphilis, arthrosclerosis, rheumatoid arthritis, and ankylosing spondylitis.
Immunologic findings as above. The Singleton-Merten syndrome is also
described as showing ascending aortic calcification and aortic valve disease
developing in childhood, but is characterized by dental dysplasia and