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Disorder characterized by the association of cataracts, cardiomyopathy and multiple joint disorders.

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Cardiomyopathy with Cataract and Hip Spine Disease.

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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.

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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.

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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 87:56, 1985.  [PubMed: 3965265]

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