ABSTRACT
We report three unrelated patients with congenital facial nerve palsy and chromosome 22q11 deletion, a condition hitherto poorly recognized. In the first case, facial palsy was associated with aortic coarctation, ductus arteriosus, and ostium secundum atrial septal defect. In the second case, facial palsy was associated with ostium secundum atrial septal defect, obstruction of the ureteropelvic junction, double ureteropelvic-calicial system, and distal metaphyseal widening of the forearm and leg bones. In both cases, facial palsy was the presenting feature. In the third case, an ostium secundum atrial septal defect was also present, but involvement of cranial nerves III, VI, and VIII, in addition to hypoplastic structures of cerebellar and cerebral peduncles, were the predominant features. There were no inherited deletions within chromosome band 22q11 and the de novo deletions detected in each case belonged to the paternally derived chromosome 22. Association of facial nerve palsy and congenital heart disease versus cardiofacial syndrome are different only on clinical grounds, so both conditions can be genetically identical and form part of the spectrum of defects associated with chromosome 22q11 deletions. We recommend investigation for chromosome 22q11 deletions in patients with complete nerve facial palsy.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22 , Facial Paralysis/genetics , Chromosome Mapping , Facial Paralysis/diagnosis , Female , Functional Laterality/physiology , Humans , Infant , Infant, Newborn , Male , Neurologic ExaminationABSTRACT
Between January 1977 and July 1981, 132 Ionescu-Shiley xenografts were implanted in 124 patients. Early and late mortality was 13.7% (17/124) and 9.2% (10/107), respectively. Cumulative survival rates at 4 to 5 years were 76% (aortic) and 84% (mitral). Thromboembolic analysis showed 0.72 episodes per 100 patients per year, without chronic anticoagulation. The thromboembolism free rates were 96.8% (mitral) and 100% (aortic); 75% of the mitral patients were in atrial fibrillation. No primary valve dysfunction was detected. In the aortic position (8 patients with valve stent diameter from 19 to 25 mm), the mean peak systolic gradient pressure was 10 +/- 5.5 mm Hg, and calculated valve surface areas were 1.6 +/- 0.5 cm2 at rest and 2 +/- 0.1 cm2 after exercise. A satisfactory correlation between catheterization-derived valve area (from hemodynamic data) and valve stent diameter was obtained (r = 0.94). In the mitral position, the mean diastolic gradient pressure was 4.7 +/- 3.1 mm Hg at rest and 13.8 +/- 0.9 after exercise with the 27 mm xenograft. The corresponding calculated surface areas were 2.8 +/- 6 cm2 and 3 +/- 0.8 cm2. The present data show minimal thrombogenicity without chronic anticoagulation, even in patients with atrial fibrillation or enlarged left atrium and advantageous hemodynamic characteristics, particularly in those with small aortic annuli.
