Surgical Results in Patients With Cardiac Defects and Del 22q11.2 Syndrome




We read with great interest the report by Dr. Momma on cardiovascular anomalies associated with 22q11.2 deletion syndrome. Dr. Momma is 1 of the recognized pioneers in the field, and he reports on all the morphologic aspects of cardiac defects associated with this syndrome. We would like to add to this important contribution recent data on surgical results in these complex cardiac defects associated with del 22q11.2.


In 2006, a retrospective study of 306 consecutive patients with tetralogy of Fallot (excluding those with associated pulmonary atresia, absent pulmonary valve, and atrioventricular canal) showed that the presence of del 22q11.2 was not a risk factor for the primary surgical repair. In contrast, 2 independent groups showed that in children with pulmonary atresia with ventricular septal defect, the association with del 22q11.2 represented a significant risk factor for mortality at surgical repair. The complex pulmonary artery anatomy and its effect on airway hyperresponsiveness associated with the reduction of the immune competence may explain these worse surgical results.


Other studies have suggested that the presence of del 22q11.2 does not seem to influence the surgical results in patients with truncus arteriosus and in those with interrupted aortic arch. No specific data on surgical prognosis are available for the other types of cardiac defects associated with del 22q11.2.


In conclusion, most children with conotruncal defects and del 22q11.2 can undergo surgical correction without high surgical risk. The stratification of risks on the basis of genotyping is a promising perspective in cardiovascular medicine, and genotype-prognosis correlations are currently available also in pediatric cardiology.


References



  1. 1. Momma K.: Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010; 105: pp. 1617-1624

  2. 2. Michielon G., Marino B., Formigari R., Gargiulo G., Picchio F., Digilio M.C., Anaclerio S., Oricchio G., Sanders S.P., and Di Donato R.M.: Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg 2006; 81: pp. 968-975

  3. 3. Carotti A., Marino B., and Di Donato R.M.: Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of Fallot with pulmonary atresia. J Thorac Cardiovasc Surg 2003; 126: pp. 1666-1667

  4. 4. Mahle W.T., Crisalli J., Coleman K., Campbell R.M., Tam V.K., Vincent R.N., and Kanter K.R.: Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann Thorac Surg 2003; 76: pp. 567-571

  5. 5. Carotti A., Albanese S.B., Filippelli S., Ravà L., Guccione P., Pongiglione G., and Di Donato R.M.: Determinants of outcome after surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. J Thorac Cardiovasc Surg 2010; 140: pp. 1092-1103

  6. 6. Carotti A., Digilio M.C., Piacentini G., Saffirio C., Di Donato R.M., and Marino B.: Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev 2008; 14: pp. 35-42

  7. 7. Michielon G., Marino B., Oricchio G., Digilio M.C., Iorio F., Filippelli S., Placidi S., and Di Donato R.M.: Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg 2009; 138: pp. 565-570

  8. 8. Ashrafian H., and Watkins H.: Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. J Am Coll Cardiol 2007; 49: pp. 1251-1264

  9. 9. Formigari R., Michielon G., Digilio M.C., Piacentini G., Carotti A., Giardini A., Di Donato R.M., and Marino B.: Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg 2009; 35: pp. 606-614

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Dec 22, 2016 | Posted by in CARDIOLOGY | Comments Off on Surgical Results in Patients With Cardiac Defects and Del 22q11.2 Syndrome

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