Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rigid spine syndrome (RSS) is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine. Various cardiac changes have been documented in case reports. This study reports on a cardiac evaluation of nine patients with the "vacuolar variant" of RSS. Noninvasive cardiac evaluation entailed creatine kinase levels, full-inspiration chest roentgenograms, standard 12-lead ECG, and 24-h ambulatory ECG recording, as well as M-mode and two-dimensional echocardiography with Doppler study. Heart auscultation was abnormal in five patients. Creatine kinase MB fraction was normal in all patients. Chest roentgenogram showed scoliosis (five of nine), kyphosis (one of nine), severe anterior-posterior flattening of the chest cavity (two of nine), elevated hemidiaphragm (one of nine), caved-in appearance of upper lobes (two of nine), and symmetry of lung volumes (one of nine). Twelve-lead ECG abnormalities indicated right-sided heart disease (three of nine). Echocardiogram showed mitral valve prolapse (five of nine) with regurgitation (three of five) and evidence of pulmonary hypertension (three of nine). Ambulatory ECG recorded paroxysmal tachyarrhythmias in hypoxic or hypercapnic patients (three of nine). There was no correlation between any cardiac abnormalities and patient weakness. Mitral prolapse/regurgitation may have a developmental association with this congenital myopathy. Findings of cor pulmonale were due to the restrictive chest wall defect and respiratory muscle weakness. Paroxysmal tachyarrhythmias were due to hypoxia or hypercapnia. There was no evidence of a primary cardiomyopathy.
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PMID:Rigid spine syndrome: a noninvasive cardiac evaluation. 1782 62

A 24-year-old man with Marfan syndrome underwent mitral valve repair for prolapse at age 13. He sustained an acute type A aortic dissection at age 20 and underwent aortic root/ascending aortic replacement with a mechanical valved conduit. He initially did well after the latter procedure, but end-stage heart disease developed 4 years later, apparently secondary to primary cardiomyopathy. Pre-transplant evaluation revealed residual chronic dissection with aneurysmal dilatation of the distal ascending aorta, transverse arch, and descending thoracic aorta. He underwent combined orthotopic heart transplantation (OHT) and total arch replacement (stage I elephant trunk procedure). Subsequently, he underwent extent II thoracoabdominal aneurysm repair, leaving no residual aortic disease. The 2 procedures resulted in total cardioaortic replacement, thus definitively managing his cardiomyopathy and aortic disease resulting from Marfan syndrome. The operative strategies employed represent a novel approach in this clinical setting. This report emphasizes that patients with this disease should not be denied potentially life-saving OHT on the basis of concomitant aortic disease, but rather should be treated in centers offering expertise in both areas of surgical therapy.
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PMID:Two-stage total cardioaortic replacement for end-stage heart and aortic disease in Marfan syndrome: case report and review of the literature. 1971 50