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Published in: Journal of Medical Case Reports 1/2019

Open Access 01-12-2019 | Implantable Cardioverter Defibrillator | Case report

Berlin Heart EXCOR® pediatric ventricular assist device in a patient with Sotos syndrome: a case report

Authors: Rita Gravino, Giuseppe Limongelli, Andrea Petraio, Daniele Masarone, Maria Giovanna Russo, Ciro Maiello, Marina Verrengia, Danilo De Paulis, Giuseppe Pacileo

Published in: Journal of Medical Case Reports | Issue 1/2019

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Abstract

Introduction

Berlin Heart EXCOR® pediatric ventricular assist device is a mechanical circulatory support device currently used in pediatric patients. Sotos syndrome is a well-described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, cardiac abnormalities, and variable learning disabilities.

Case presentation

We describe a 7-year-old female Caucasian child with classic Sotos syndrome features subjected to implantation of Berlin Heart EXCOR® pediatric biventricular assist device mechanical support. A heart transplant was carried out after a support time of 459 days. After 5 years of follow-up, our patient is clinically stable and the performance of the transplanted heart is excellent.

Conclusion

This case confirms that Berlin Heart EXCOR® pediatric ventricular assist device can provide satisfactory and safe circulatory support for children with end-stage heart diseases, even in those with Sotos syndrome. The syndrome is not a contraindication to implantation, since the complications are the same as those observed in patients without the syndrome and the prognosis is not affected by the disease.
Literature
1.
go back to reference Lloyd -Jones D, Adams RJ, Brown TM, Carnethon M, Dai S, De Simone G, et al. Heart disease and stroke statistics--2010 update: a report from the American Heart Association. Circulation. 2010;121(7):e46–e215.PubMed Lloyd -Jones D, Adams RJ, Brown TM, Carnethon M, Dai S, De Simone G, et al. Heart disease and stroke statistics--2010 update: a report from the American Heart Association. Circulation. 2010;121(7):e46–e215.PubMed
2.
go back to reference Pagani FD, Miller LW, Russell SD, Aaronson KD, John R, Boyle AJ, et al. Extended mechanical circulatory support with a continuous-flow rotary left ventricular assist device. J Am Coll Cardiol. 2009;54(4):312–21.CrossRef Pagani FD, Miller LW, Russell SD, Aaronson KD, John R, Boyle AJ, et al. Extended mechanical circulatory support with a continuous-flow rotary left ventricular assist device. J Am Coll Cardiol. 2009;54(4):312–21.CrossRef
3.
go back to reference Aurora P, Edwards LB, Kucheryavaya AY, Christie JD, Dobbels F, Kirk R, et al. The registry of the International Society for Heart and Lung Transplantation: thirteenth official pediatric lung and heart-lung transplantation report--2010. J Heart Lung Transplant. 2010;29(10):1129–41.CrossRef Aurora P, Edwards LB, Kucheryavaya AY, Christie JD, Dobbels F, Kirk R, et al. The registry of the International Society for Heart and Lung Transplantation: thirteenth official pediatric lung and heart-lung transplantation report--2010. J Heart Lung Transplant. 2010;29(10):1129–41.CrossRef
4.
go back to reference Almond CS, Thiagarajan RR, Piercey GE, Gauvreau K, Blume ED, Bastardi HJ, et al. Waiting list mortality among children listed for heart transplantation in the United States. Circulation. 2009;119(5):717–27.CrossRef Almond CS, Thiagarajan RR, Piercey GE, Gauvreau K, Blume ED, Bastardi HJ, et al. Waiting list mortality among children listed for heart transplantation in the United States. Circulation. 2009;119(5):717–27.CrossRef
5.
go back to reference Mah D, Singh TP, Thiagarajan RR, Gauvreau K, Piercey GE, Blume ED, et al. Incidence and risk factors for mortality in infants awaiting heart transplantation in the USA. J Heart Lung Transplant. 2009;28(12):1292–8.CrossRef Mah D, Singh TP, Thiagarajan RR, Gauvreau K, Piercey GE, Blume ED, et al. Incidence and risk factors for mortality in infants awaiting heart transplantation in the USA. J Heart Lung Transplant. 2009;28(12):1292–8.CrossRef
6.
go back to reference Rosenthal DN, Dubin AM, Chin C, Falco D, Gamberg P, Bernstein D. Outcome while awaiting heart transplantation in children: a comparison of congenital heart disease and cardiomyopathy. J Heart Lung Transplant. 2000;19(8):751–5.CrossRef Rosenthal DN, Dubin AM, Chin C, Falco D, Gamberg P, Bernstein D. Outcome while awaiting heart transplantation in children: a comparison of congenital heart disease and cardiomyopathy. J Heart Lung Transplant. 2000;19(8):751–5.CrossRef
8.
go back to reference Hetzer R, Loebe M, Potapov EV, Weng Y, Stiller B, Hennig E, et al. Circulatory support with pneumatic paracorporeal ventricular assist device in infants and children. Ann Thorac Surg. 1998;66:1498–505.CrossRef Hetzer R, Loebe M, Potapov EV, Weng Y, Stiller B, Hennig E, et al. Circulatory support with pneumatic paracorporeal ventricular assist device in infants and children. Ann Thorac Surg. 1998;66:1498–505.CrossRef
9.
go back to reference Stiller B, Weng Y, Hübler M, Lemmer J, Nagdyman N, Redlin M, et al. Pneumatic pulsatile ventricular assist devices in children under 1 year of age. Eur J Cardiothorac Surg. 2005;28(2):234–9.CrossRef Stiller B, Weng Y, Hübler M, Lemmer J, Nagdyman N, Redlin M, et al. Pneumatic pulsatile ventricular assist devices in children under 1 year of age. Eur J Cardiothorac Surg. 2005;28(2):234–9.CrossRef
10.
go back to reference Cassidy J, Haynes S, Kirk R, Crossland D, Smith JH, Hamilton L, et al. Changing patterns of bridging to heart transplantation in children. J Heart Lung Transplant. 2009;28(3):249–54.CrossRef Cassidy J, Haynes S, Kirk R, Crossland D, Smith JH, Hamilton L, et al. Changing patterns of bridging to heart transplantation in children. J Heart Lung Transplant. 2009;28(3):249–54.CrossRef
11.
go back to reference Sandica E, Knyphausen EZ, Blanz U, Röfe D, Morshuis M. Safety of long-term mechanical support with Berlin Heart EXCOR in pediatric patients. World J Pediatr Congenit Heart Surg. 2012;3(1):72–6.CrossRef Sandica E, Knyphausen EZ, Blanz U, Röfe D, Morshuis M. Safety of long-term mechanical support with Berlin Heart EXCOR in pediatric patients. World J Pediatr Congenit Heart Surg. 2012;3(1):72–6.CrossRef
12.
go back to reference Fraser CD, Jaquiss RD, Rosenthal DN, Humpl T, Canter CE, Blackstone EH, et al. Berlin Heart Study Investigators. Prospective Trial of a pediatric ventricular assist device. N Engl J Med. 2012;367:532–41.CrossRef Fraser CD, Jaquiss RD, Rosenthal DN, Humpl T, Canter CE, Blackstone EH, et al. Berlin Heart Study Investigators. Prospective Trial of a pediatric ventricular assist device. N Engl J Med. 2012;367:532–41.CrossRef
13.
go back to reference Imamura M, Dossey AM, Prodhan P, Schmitz M, Frazier E, Dyamenahalli U, et al. Bridge to cardiac transplant in children: Berlin Heart versus extracorporeal membrane oxygenation. Ann Thorac Surg. 2009;87(6):1894–901.CrossRef Imamura M, Dossey AM, Prodhan P, Schmitz M, Frazier E, Dyamenahalli U, et al. Bridge to cardiac transplant in children: Berlin Heart versus extracorporeal membrane oxygenation. Ann Thorac Surg. 2009;87(6):1894–901.CrossRef
14.
go back to reference Almond CS, Morales DL, Blackstone EH, Turrentine MW, Imamura M, Massicotte MP, et al. Berlin Heart EXCOR pediatric ventricular assist device for bridge to heart transplantation in US children. Circulation. 2013;127:1702–11.CrossRef Almond CS, Morales DL, Blackstone EH, Turrentine MW, Imamura M, Massicotte MP, et al. Berlin Heart EXCOR pediatric ventricular assist device for bridge to heart transplantation in US children. Circulation. 2013;127:1702–11.CrossRef
15.
go back to reference Karimova A, Van Doorn C, Brown K, Giardini A, Kostolny M, Mathias M, et al. Mechanical bridging to orthotopic heart transplantation in children weighing less than 10 kg: feasibility and limitations. Eur J Cardiothorac Surg. 2011;39(3):304–9.CrossRef Karimova A, Van Doorn C, Brown K, Giardini A, Kostolny M, Mathias M, et al. Mechanical bridging to orthotopic heart transplantation in children weighing less than 10 kg: feasibility and limitations. Eur J Cardiothorac Surg. 2011;39(3):304–9.CrossRef
16.
go back to reference Cassidy J, Dominguez T, Haynes S, Burch M, Kirk R, Hoskote A, et al. A longer waiting game: bridging children to heart transplant with the Berlin Heart EXCOR device--the United Kingdom experience. J Heart Lung Transplant. 2013;32(11):1101–6.CrossRef Cassidy J, Dominguez T, Haynes S, Burch M, Kirk R, Hoskote A, et al. A longer waiting game: bridging children to heart transplant with the Berlin Heart EXCOR device--the United Kingdom experience. J Heart Lung Transplant. 2013;32(11):1101–6.CrossRef
17.
go back to reference Stiller B, Lemmer J, Schubert S, Ewert P, Schulze-Neick I, Hübler M, et al. Management of pediatric patients after implantation of the Berlin Heart EXCOR ventricular assist device. ASAIO J. 2006;52(5):497–500.PubMed Stiller B, Lemmer J, Schubert S, Ewert P, Schulze-Neick I, Hübler M, et al. Management of pediatric patients after implantation of the Berlin Heart EXCOR ventricular assist device. ASAIO J. 2006;52(5):497–500.PubMed
18.
go back to reference Polito A, Pelletier MP, Yun JJ, Sharma K, Timek TA, Rosenthal DN, et al. Neurological complications during pulsatile ventricular assistance with the Berlin Heart EXCOR in children: incidence and risk factors. Artif Organs. 2013;37(10):851–6.CrossRef Polito A, Pelletier MP, Yun JJ, Sharma K, Timek TA, Rosenthal DN, et al. Neurological complications during pulsatile ventricular assistance with the Berlin Heart EXCOR in children: incidence and risk factors. Artif Organs. 2013;37(10):851–6.CrossRef
19.
go back to reference Malaisrie SC, Pelletier MP, Yun JJ, Sharma K, Timek TA, Rosenthal DN, et al. Pneumatic paracorporeal ventricular assist device in infants and children: initial Stanford experience. J Heart Lung Transplant. 2008;27:173–7.CrossRef Malaisrie SC, Pelletier MP, Yun JJ, Sharma K, Timek TA, Rosenthal DN, et al. Pneumatic paracorporeal ventricular assist device in infants and children: initial Stanford experience. J Heart Lung Transplant. 2008;27:173–7.CrossRef
20.
go back to reference Brancaccio G, Amodeo A, Ricci Z, Morelli S, Gagliardi MG, Iacobelli R, et al. Mechanical assist device as a bridge to heart transplantation in children less than 10 kilograms. Ann Thorac Surg. 2010;90:58–62.CrossRef Brancaccio G, Amodeo A, Ricci Z, Morelli S, Gagliardi MG, Iacobelli R, et al. Mechanical assist device as a bridge to heart transplantation in children less than 10 kilograms. Ann Thorac Surg. 2010;90:58–62.CrossRef
21.
go back to reference Byrnes JW, Prodhan P, Williams BA, Schmitz ML, Moss MM, Dyamenahalli U, et al. Incremental reduction in the incidence of stroke in children supported with the Berlin EXCOR Ventricular Assist Device. Ann Thorac Surg. 2013;96:1727–33.CrossRef Byrnes JW, Prodhan P, Williams BA, Schmitz ML, Moss MM, Dyamenahalli U, et al. Incremental reduction in the incidence of stroke in children supported with the Berlin EXCOR Ventricular Assist Device. Ann Thorac Surg. 2013;96:1727–33.CrossRef
22.
23.
go back to reference Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood. N Engl J Med. 1964;271:109–16.CrossRef Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB. Cerebral gigantism in childhood. N Engl J Med. 1964;271:109–16.CrossRef
25.
go back to reference Cole TRP, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet. 1994;31:20–32.CrossRef Cole TRP, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet. 1994;31:20–32.CrossRef
26.
go back to reference Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002;30:365–6.CrossRef Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002;30:365–6.CrossRef
27.
go back to reference Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003;72:132–43.CrossRef Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003;72:132–43.CrossRef
28.
go back to reference Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet. 2003;40:436–40.CrossRef Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet. 2003;40:436–40.CrossRef
29.
go back to reference Turkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, et al. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Med Genet. 2003;11:858–65. Turkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, et al. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Med Genet. 2003;11:858–65.
30.
go back to reference Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, et al. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet. 2005;134:247–53.CrossRef Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, et al. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet. 2005;134:247–53.CrossRef
31.
go back to reference Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005;77:193–204.CrossRef Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005;77:193–204.CrossRef
32.
go back to reference Douglas J, Coleman K, Tatton-Brown K, Hughes HE, Temple IK, Cole TR, et al. Childhood Overgrowth Collaboration. Evaluation of NSD2 and NSD3 in overgrowth syndromes. Eur J Hum Genet. 2005;13:150–3.CrossRef Douglas J, Coleman K, Tatton-Brown K, Hughes HE, Temple IK, Cole TR, et al. Childhood Overgrowth Collaboration. Evaluation of NSD2 and NSD3 in overgrowth syndromes. Eur J Hum Genet. 2005;13:150–3.CrossRef
33.
go back to reference Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, et al. A clinical study of Sotos syndrome patients with review of the literature. Pediatr Neurol. 2009;40:357–64.CrossRef Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, Psoni S, Mavrou A, Kanavakis E, et al. A clinical study of Sotos syndrome patients with review of the literature. Pediatr Neurol. 2009;40:357–64.CrossRef
34.
go back to reference Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol. 2004;13:199–204.CrossRef Tatton-Brown K, Rahman N. Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol. 2004;13:199–204.CrossRef
35.
go back to reference Noreau DR, Al-Ata J, Jutras L, Teebi AS. Congenital heart defects in Sotos syndrome. Ame j med genet. 1998;79:327–8.CrossRef Noreau DR, Al-Ata J, Jutras L, Teebi AS. Congenital heart defects in Sotos syndrome. Ame j med genet. 1998;79:327–8.CrossRef
36.
go back to reference Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15:264–71.CrossRef Tatton-Brown K, Rahman N. Sotos syndrome. Eur J Hum Genet. 2007;15:264–71.CrossRef
37.
38.
go back to reference Cohen MM. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J MedGenet. 2003;117:49–56.CrossRef Cohen MM. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J MedGenet. 2003;117:49–56.CrossRef
39.
go back to reference Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet. 2005;137:53–71.CrossRef Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet. 2005;137:53–71.CrossRef
40.
go back to reference Hersh JH, Cole TR, Bloom AS, Bertolone SJ, Hughes HE. Risk of malignancy in Sotos syndrome. J Pediatr. 1992;120:572–4.CrossRef Hersh JH, Cole TR, Bloom AS, Bertolone SJ, Hughes HE. Risk of malignancy in Sotos syndrome. J Pediatr. 1992;120:572–4.CrossRef
Metadata
Title
Berlin Heart EXCOR® pediatric ventricular assist device in a patient with Sotos syndrome: a case report
Authors
Rita Gravino
Giuseppe Limongelli
Andrea Petraio
Daniele Masarone
Maria Giovanna Russo
Ciro Maiello
Marina Verrengia
Danilo De Paulis
Giuseppe Pacileo
Publication date
01-12-2019
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2019
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-019-2190-9

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