Persistent left superior vena cava: an overlooked feature of CHARGE syndrome? | Cardiogenetics

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