Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome
DiGeorge syndrome (DGS) is commonly associated with both congenital heart disease (CHD) and immunologic abnormalities. While CHD may prompt consideration for heart transplantation (HTx), little is known about HTx management or outcomes in this group. The aim of this study was to describe the spectrum of patients with DGS who undergo HTx and report post-HTx outcomes. All pediatric HTx recipients (2002–2016) with DGS were identified using ICD codes from a linked billing and clinical registry database. Patient characteristics and outcomes were described and compared to non-DGS HTx recipients with CHD. Kaplan–Meier methods were used to assess overall survival, freedom from infection, and freedom from rejection. A total of 17 patients with DGS who underwent HTx at 12 different centers were included. Median age at HTx was 5 years (IQR 0–13 years). Steroids were used for induction in all patients in addition to thymoglobulin in 13/17 (76%) and IL2R antagonists in 3/17 (18%). Maintenance immunosuppression was a combination of tacrolimus or cyclosporine and mycophenolate or azathioprine in 16/17 (94%). Half received steroids at the time of discharge. There were six deaths (35%). The median post-HTx survival was 5.4 years with no difference in freedom from rejection, infection, or overall survival between patients with and without DGS. Patients with DGS undergoing HTx received standard immunosuppression. We found no difference in freedom from infection, rejection, or overall post-HTx survival compared to non-DGS patients, although the small size of our study resulted in limited statistical power. Given the potential for favorable outcomes, patients with DGS may be considered for HTx in the appropriate clinical setting.
KeywordsPediatric Heart transplantation DiGeorge syndrome 22q11 deletion
The data reported here have been supplied by the Hennepin Healthcare Research Institute (HHRI) as the contractor for the Scientific Registry of Transplant Recipients (SRTR). The interpretation and reporting of these data are the responsibility of the author(s) and in no way should be seen as an official policy of or interpretation by the SRTR or the U.S. Government.
This project was supported through internal funding from the Katherine Dodd Faculty Scholar Program at Vanderbilt University (JG). Research reported in this publication was supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health under Award Number K23HL123938 (Bethesda, MD) (JS). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Compliance with Ethical Standards
Conflict of interest
The authors have no conflicts of interest to disclose related to the content of this manuscript.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was waived by Vanderbilt IRB.
- 1.Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J International 22q11.2 Deletion Syndrome C (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159(2):332–339 e331. https://doi.org/10.1016/j.jpeds.2011.02.039 CrossRefGoogle Scholar
- 7.Godown J, Thurm C, Dodd DA, Soslow JH, Feingold B, Smith AH, Mettler BA, Thompson B, Hall M (2017) A unique linkage of administrative and clinical registry databases to expand analytic possibilities in pediatric heart transplantation research. Am Heart J 194:9–15. https://doi.org/10.1016/j.ahj.2017.08.014 CrossRefGoogle Scholar
- 8.Rossano JW, Dipchand AI, Edwards LB, Goldfarb S, Kucheryavaya AY, Levvey Rn BJ, Lund LH, Meiser B, Yusen RD, Stehlik J, International Society for H, Lung T (2016) The Registry of the International Society for Heart and Lung Transplantation: nineteenth pediatric heart transplantation report-2016; focus theme: primary diagnostic indications for transplant. J Heart Lung Transplant 35(10):1185–1195. https://doi.org/10.1016/j.healun.2016.08.018 CrossRefGoogle Scholar
- 9.Jawad AF, Prak EL, Boyer J, McDonald-McGinn DM, Zackai E, McDonald K, Sullivan KE (2011) A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). J Clin Immunol 31(6):927–935. https://doi.org/10.1007/s10875-011-9569-8 CrossRefGoogle Scholar
- 12.Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K (2010) Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol 136(3):409–418. https://doi.org/10.1016/j.clim.2010.04.011 CrossRefGoogle Scholar
- 14.Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ III, Driscoll DA, Jawad A, Emanuel BS, McDonald-McGinn DM, Batshaw ML, Zackai EH (1999) Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet 85(2):127–133CrossRefGoogle Scholar
- 15.Simon TJ, Bish JP, Bearden CE, Ding L, Ferrante S, Nguyen V, Gee JC, McDonald-McGinn DM, Zackai EH, Emanuel BS (2005) A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev Psychopathol 17(3):753–784. https://doi.org/10.1017/S0954579405050364 CrossRefGoogle Scholar
- 22.Broda CR, Cabrera AG, Rossano JW, Jefferies JL, Towbin JA, Chin C, Shamszad P (2018) Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: a multi-institutional outcomes analysis. J Heart Lung Transplant 37(6):749–754. https://doi.org/10.1016/j.healun.2018.01.1296 CrossRefGoogle Scholar