Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)

Abstract

AbstractKleefstra syndrome (chromosome 9q34.3 deletion) is a rare genetic disorder with less than 110 patients reported till date. We report a 4-month-old Caucasian girl with Kleefstra syndrome and Shone’s complex, an association which has not been previously reported. Surgical planning for patients with Kleefstra syndrome and complex CHD can pose challenges due to an uncertain natural history and a risk of post-operative pulmonary hypertension.