Abstract
CHARGE is a well-characterized syndrome (OMIM 2148400) associated with multiple congenital anomalies including cardiovascular malformations. Mutations in CHD7 are the most common cause of CHARGE syndrome. Persistent left superior vena cava (LSVC) has been described in patients with CHARGE syndrome in one study of LSVC associations. A retrospective chart review was conducted for all patients with CHARGE syndrome, diagnosed by Blake criterion features and/or the presence of a pathogenic CHD7 mutation. Echocardio - grams were performed on a clinical basis for all patients and were systematically reviewed and classified. Persistent LSVC was present in 50% of patients with CHARGE syndrome (4/8) and was seen in 3 out of 33 patients seen by cardiovascular genetics with 22q11.2 deletion syndrome. Persistent LSVC is a common finding in patients with CHARGE syndrome and its presence may increase the index of suspicion in patients with other characteristic congenital anomalies.
Highlights
Sequencing of CHD7,5 Chromodomain Helicase DNA-binding protein active in the developing embryo
The presence of left superior vena cava (LSVC) is common in the general population (0.1-1.7%)8 and may be an asymptomatic congenital anomaly discovered in the course of evaluation for other conditions
We reviewed patients with CHARGE syndrome seen by the cardiovascular genetics service at CCHMC to determine the frequency of venous anomalies
Summary
Characteristic external ear anomaly, middle/inner ear malformations, mixed deafness 4. 3. Genital hypoplasia or delayed pubertal development 4. Malformation of the middle or external ear 3. Hypothalamo-hypophyseal dysfunction (gonadotropin or growth hormone deficiency) 5. Typical CHARGE 3 major or 2 major + 2 minor Partial CHARGE 2 major + 1 minor Atypical CHARGE 2 major + 0 minor or 1 major + 1 minor [page 22]
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