Disorder characterized by the association of cataracts,
cardiomyopathy and multiple joint disorders.
Cardiomyopathy with Cataract and Hip Spine Disease.
Three of seven children from
consanguineous parents had a triad of cardiomyopathy, joint disease, and
cataracts. Several relatives in the previous and following generations had
one or two conditions of the triad. Autosomal recessive inheritance, with
variable penetrance and expressivity has been suggested.
Dilated cardiomyopathy secondary to myocardial
infiltration with basophilic periodic acid-Schiff (PAS)-positive
granulofilamentous deposits resulting in hypokinetic left ventricular
function. Electrocardiographic changes, including Q-waves in inferior leads, right bundle
branch block, and long-QT interval, were common, but dysrhythmias were not a
frequent feature of the clinical course. Bilateral degenerative disease of the
hips and intervertebral disks of the thoracolumbar spine, which caused mild
scoliosis was noted. Platyspondyly and anterior wedging of the vertebrae were seen on
spine radiographs. Cataracts appeared in the young adults prior to other
manifestations of the syndrome.
Evaluate and optimize cardiac status
preoperatively. Obtain an echocardiogram to check for dysrhythmias. Echocardiogram to assess
myocardial function (ejection fraction) and valvular function. Some
cardiac medications may cause electrolyte abnormalities
(angiotensin-converting enzyme inhibitors, diuretics). Tolerance of
myocardial depressants, hyperor hypovolemia may be limited.
Invasive monitoring with arterial line, central line with or without
pulmonary artery catheter may be useful to optimize myocardial function.
Postoperative intensive care unit care for monitoring and inotropic support
may be required. Patients with degenerative joint disease may have
contractures that are painful and require careful positioning and padding. Although not
a significant feature of this syndrome, severe thoracolumbar disk disease
could lead to kyphoscoliosis, which may affect respiratory and later on also cardiac function.
Krasnow N, Qazi QH, Yermakov V: A familial dilated cardiomyopathy
associated with cataracts and hip-spine disease. Chest