Brief clinical and laboratory observation

Concordant aortic arch anomalies in monozygotic twins

CHARGE syndrome is a group of nonrandomly occurring congenital anomalies which may present to the ophthalmologist, because coloboma is one of the major findings. In a series of 54 patients with ocular colobomata, 6 (11 %) were found to meet the criteria for CHARGE syndrome. The mnemonic CHARGE stands for the major features of this syndrome: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or hearing loss. No specific etiology is known, but autosomal dominant, autosomal recessive, and X-linked recessive forms have been suggested by familial reports. The authors describe six patients with CHARGE syndrome, including the second reported case occurring in monozygotic twins. Other syndromes, chromosomal defects, and effects of teratogens may have similar clinical presentations. Though our prevalence may be skewed by our referral setting, the frequency of occurrence of this syndrome is certainly high enough that ophthalmologists should be familiar with it. Evaluation for associated defects should be carried out and referral for genetic evaluation undertaken when appropriate.

We report 21 patients with choanal atresia or ocular coloboma or both who have certain other associated anomalies, including congenital heart disease, postnatal growth deficiency, mental retardation and/or CNS anomalies, microphallus and cryptorchidism, and ear anomalies and/or deafness. Facial palsy, micrognathia, cleft palate, and swallowing difficulties were also common. It has not been possible to define a single etiology or a syndrome in these patients. We propose the mnemonic CHARGE (C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth and retarded development and/or CNS anomalies, G-genital hypoplasia, and E-ear anomalies and/or deafness) to describe the features of this association.

Fifty-one children with discrete subvalvular aortic stenosis were studied between 1951 and 1974. The three anatomic types of obstruction found were the thin membranous type (43 cases), the fibromuscular collar type (5 cases) and the tunnel type (3 cases). The obstruction was usually severe, and the median left ventricular to aortic systolic pressure gradient was 90 mm Hg. Progressive obstruction with an increasing gradient was documented in 10 patients by serial cardiac catheterizations. Significant associated cardiac defects, present in 57 percent of patients, often masked the typical clinical and cardiac catheterization features of subaortic stenosis. The stenosis was often not discovered until after surgery for the associated defect.

Forty patients underwent surgical resection of the discrete subaortic obstruction. After surgery significant left ventricular to aortic pressure gradients can be found at postoperative cardiac catheterization. These gradients may reflect inadequate resection of the more complex discrete obstructions or represent proliferation and regrowth of the previously resected subvalvular fibrous tissue. The criteria for operability of discrete subaortic stenosis should be the angiographic demonstration of a discrete subvalvular diaphragm and the presence of a resting left ventricular to aortic systolic pressure gradient of 40 mm Hg or more.