Heterogenous syndrome characterized by the association
of familial aortic stenosis, calcifications of the aorta, aortic and mitral valves
anomalies and osteoporosis. There is an increased globulin levels with immunologic
No epidemiological studies have been reported for this very rare
Thought to be autosomal dominant.
Linear calcification of the ascending aorta and
severe calcific mixed aortic valve disease (stenotic and regurgitant).
Associated with increased globulin levels, a lambda-chain gammopathy, and
increased T4:T8 lymphocyte ratio. Histology shows extensive medial
necrosis of the proximal aorta and its branches with secondary plaques of
calcium confined to those areas. No evidence of previous inflammation or
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
Cardiac murmur detected in first or second
decades of life. Features of aortic stenosis and radiographic evidence of
calcification seen from second decade. Progressive course with eventual need
for aortic valve replacement.
Obtain full cardiac history,
particularly with regard to heart failure, syncope, and chest pain. Evaluate
ECG for evidence of left ventricular hypertrophy and bundle branch block.
Review chest radiograph for evidence of aortic calcification, ventricular
dilatation, and pulmonary congestion. Echocardiography to assess aortic
valve gradient and left ventricular function. Review cardiac catheter
studies if available.
Those pertinent to aortic stenosis
and/or regurgitation. Bacterial endocarditis prophylaxis necessary.
Caution with use of intravenous
induction agents in presence of decreased cardiac output. Circulation time
may be prolonged. Avoid excessive decreases in systemic vascular resistance
in presence of relatively fixed cardiac output across a stenotic valve.
Calcific Aortic Stenosis: A rare complication of aortic
sclerosis that occurs as a consequence of aging, affecting approximately 2
to 3% of those older than 75 years of age. Narrowing of the aortic
orifice because of calcification of the valvular ring. May occur in an
idiopathic form without any predisposing conditions in the elderly. However,
because aortic sclerosis is a common problem in the general population, the
overall number of patients with calcific aortic stenosis is rather high.
Calcified Ascending Aorta: A common complication of
Williams Syndrome: A development disorder
affecting vascular, connective tissue, and the central nervous system. ...