Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

Abstract

Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect. These conotruncal heart defects are frequently associated in this syndrome with additional cardiovascular anomalies of the aortic arch, pulmonary arteries, infundibular septum, and semilunar valves complicating cardiac anatomy and surgical treatment. In this review we describe the surgical anatomy, the operative treatment, and the prognostic results of the cardiac defects associated with 22q11.2 deletion syndrome. According to the current literature, in patients with tetralogy of Fallot with/without pulmonary atresia and truncus arteriosus, in spite of the complex cardiac anatomy, the presence of 22q11.2 deletion syndrome does not worsen the surgical prognosis. On the contrary in children with pulmonary atresia with ventricular septal defect and probably in those with interrupted aortic arch the association with 22q11.2 deletion syndrome is probably a risk factor for the operative treatment. The complex cardiovascular anatomy in association with depressed immunological status, pulmonary vascular reactivity, neonatal hypocalcemia, bronchomalacia and broncospasm, laryngeal web, and tendency to airway bleeding must be considered at the time of diagnosis and surgical procedure. Specific diagnostic, surgical, and perioperative protocols should be applied in order to provide appropriate treatment and to reduce surgical mortality and morbidity.

Tbx1, subpulmonary myocardium and conotruncal congenital heart defects

“…The craniofacial and cardiovascular structures derived from the pharyngeal region are variably affected in patients with DiGeorge syndrome, including the thymus, parathyroid glands, jaw and craniofacial muscles, great arteries, and the cardiac OFT or conotruncus. Conotruncal defects observed in patients with DiGeorge syndrome include tetralogy of Fallot (pulmonary stenosis, ventricular septal defect, and overriding aorta, associated with right ventricular hypertrophy), pulmonary atresia, common arterial trunk, and ventricular septal defect (Carotti et al, 2008). DiGeorge syndrome is in fact the most common known genetic cause of these anomalies, accounting for 15% of tetralogy of Fallot and 30 to 35% of common arterial trunk patients (Carotti et al, 2008;Momma, 2010).…”

“…Conotruncal defects observed in patients with DiGeorge syndrome include tetralogy of Fallot (pulmonary stenosis, ventricular septal defect, and overriding aorta, associated with right ventricular hypertrophy), pulmonary atresia, common arterial trunk, and ventricular septal defect (Carotti et al, 2008). DiGeorge syndrome is in fact the most common known genetic cause of these anomalies, accounting for 15% of tetralogy of Fallot and 30 to 35% of common arterial trunk patients (Carotti et al, 2008;Momma, 2010). The spectrum of defects observed in patients with DiGeorge syndrome suggests the existence of genetic modifiers of Tbx1 function.…”

Syndromes of the First and Second Branchial Arches, Part 2: Syndromes

“…56 Cardiac anom- alies have been described in 82% of patients, including isolated ventricular septal defect and tetralogy of Fallot. 57 Two emergent clinical situations may arise in children with VCFS on the basis of the variable associated defects of the third and fourth BAs. The first is tetany, which can be sudden and fatal, due to hypocalcemia relating to aplasia of the parathyroids.…”

Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis

“…On the contrary in children with pulmonary atresia with ventricular septal defect and in those with interrupted aortic arch the association with 22q11.2 deletion syndrome is probably a risk factor for the operative treatment (8).…”

“…Th e complex cardiovascular anatomy in association with depressed immunological status, pulmonary vascular reactivity, neonatal hypocalcemia, bronchomalacia and broncospasm, laryngeal web, and tendency to airway bleeding must be considered at the time of diagnosis and surgical correction. Specifi c diagnostic, surgical, and perioperative protocols should be applied in order to provide appropriate treatment and reduce surgical mortality and morbidity (8).…”