Malformative syndrome characterized by musculoskeletal
anomalies (humerospinal dysostosis) associated with cardiac malformation
(cardiomegaly, tricuspid regurgitation, and pulmonary hypertension).
Humerospinal Dysostosis; Humerospinal Dysostosis with
Congenital Heart Disease.
Four cases are reported in the
literature, two of which were half-siblings. Presumed autosomal dominant
inheritance with variable penetrance.
Musculoskeletal anomalies were the primary
findings and included dysplastic vertebrae with midcoronal clefts, shortened
humeri with distal bifurcation, subluxated elbow and knee joints, shortened
and hypotubular long bones of the lower extremities that were often bowed,
widened iliac bones, and talipes equinovarus. Range of motion of affected
joints was limited. Scoliosis developed in one patient. All three patients
had murmurs and two had cardiomegaly on the chest radiograph. Tricuspid
regurgitation and pulmonary hypertension were diagnosed by cardiac
catheterization in the second half-sibling at age 2 years. Both
half-siblings, who died at ages of 7 months and 8 years, respectively, were found to have
thickened and stenotic mitral and tricuspid valves, right atrial and
ventricular hypertrophy with dilatation and endocardial fibrosis on
autopsy. The pulmonic and aortic valves were only mildly affected.
Cardiac evaluation, particularly
echocardiography, prior to anesthesia to identify valvular anomalies and
pulmonary hypertension is required. Patients with pulmonary hypertension are at greater
risk for perioperative cardiac morbidity. Anesthetic management should be
directed toward lowering, or at least preventing a rise in, pulmonary artery
pressure. Endocarditis prophylaxis may be required, depending on the
proposed procedure. Extremities with contracted joints require careful
positioning and padding to maintain the limb in the usual position and
prevent injury to pressure points.
Cortina H, Vidal J, Vallcanera A, et al: Humero-spinal dysostosis.
Hall BD: Humero-spinal dysostosis: Report of the fourth case with emphasis
on generalized skeletal involvement, abnormal craniofacial features, and
mitral valve thickening. J Pediatr Orthop B
Kozlowski KS, Celermajer JM, Tink AR: Humero-spinal dysostosis with
congenital heart disease. Am J Dis Child