Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD

Tim Schubert; Anoosh Esmaeili; Dietmar Schranz

doi:doi:10.11648/j.ajp.20230901.11

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Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD

Tim Schubert, Anoosh Esmaeili, Dietmar Schranz

Published in American Journal of Pediatrics (Volume 9, Issue 1)

Received: 22 November 2022 Accepted: 12 December 2022 Published: 17 January 2023

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Abstract

Background Trisomy 18 syndrome, the second most common autosomal numerical chromosomal disorder, is associated with multiple-organ abnormalities. Cardiovascular malformations are just one of those affecting prenatal and postnatal life expectancy. In general, the type and scope of treatment are still controversial and are handled very differently. Palliative care usually focuses on improving quality of life or life-threatening conditions. Objective Based on parental treatment preferences for their child, we report the anticongestive drug treatment and consecutive transcatheter therapy of cardiac shunt lesions in a girl with trisomy 18 who was born small-for-date. Methods Anticongestive drug treatment was switched form diuretic-directed drug treatment to our standard care for chronic heart failure in infants, which consists of a ß1-specific beta-blocker (bisoprolol) in combination with an ACE-inhibitor (lisinopril) and a low-dose mineralocorticoid-blocker (spironolactone). In addition, the strategy and technique of semi-invasive transcatheter treatment of significant cardiovascular shunt lesions is reported. At 3 months of age and weighing 2.4kg, a significant arterial duct was first occluded percutaneously with an MVP-5Q device, followed by transcatheter closure of a slightly misaligned perimembranous VSD six weeks later. Both interventions were performed on a spontaneously breathing only sedated baby. Results The device strategy for treating the hemodynamically significant cardiovascular shunt lesions was technically feasible and effective in combination with medication. However, the medium- or long-term outcome cannot be defined due to the limitations caused by the syndrome. Conclusion As part of a medical risk-benefit assessment, the parents should make the decision as to whether their child should be treated or not; the responsible physicians have individually to offer the best treatment option.

Published in	American Journal of Pediatrics (Volume 9, Issue 1)
DOI	10.11648/j.ajp.20230901.11
Page(s)	1-4
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Trisomy 18, Transcatheter Treatment, Patent Arterial Duct, Ventricular Septal Defect, Congestive Heart Failure, Case Report

References

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[2]	Young ID, Cook JP, Mehta L. Changing demography of trisomy 18. Arch Dis Child. 1986; 61 (10): 1035-1036. doi: 10.1136/adc.61.10.1035.
[3]	EDWARDS JH, HARNDEN DG, CAMERON AH, CROSSE VM, WOLFF OH. A new trisomic syndrome. Lancet. 1960; 1 (7128): 787-790. doi: 10.1016/s0140-6736(60)90675-9.
[4]	Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K. Radical surgery for a ventricular septal defect associated with trisomy 18. Gen Thorac Cardiovasc Surg. 2010; 58 (5): 223-227. doi: 10.1007/s11748-009-0431-3.
[5]	van Praagh S, Truman T, Firpo A, et al. Cardiac malformations in trisomy-18: a study of 41 postmortem cases. J Am Coll Cardiol. 1989; 13 (7): 1586-1597. doi: 10.1016/0735-1097(89)90353-7.
[6]	Spicer DE, Hsu HH, Co-Vu J, Anderson RH, Fricker FJ. Ventricular septal defect. Orphanet J Rare Dis. 2014; 9: 144. doi: 10.1186/s13023-014-0144-2.
[7]	Mullin J, Wolfe J, Bluebond-Langner M, Craig F. Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents. Am J Med Genet A. 2019; 179 (6): 903-907. doi: 10.1002/ajmg.a.61149.
[8]	Sathanandam S, Gutfinger D, Morray B, et al.. Consensus Guidelines for the Prevention and Management of Periprocedural Complications of Transcatheter Patent Ductus Arteriosus Closure with the Amplatzer Piccolo Occluder in Extremely Low Birth Weight Infants. Pediatr Cardiol. 2021; 42 (6): 1258-1274. doi: 10.1007/s00246-021-02665-3.
[9]	Sathanandam S, Justino H, Waller BR 3rd, Radtke W, Qureshi AM. Initial clinical experience with the Medtronic Micro Vascular Plug™ in transcatheter occlusion of PDAs in extremely premature infants. Catheter Cardiovasc Interv. 2017 May; 89 (6): 1051-1058. doi: 10.1002/ccd.26878. Epub 2016 Nov 26. PMID: 27888552.
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[11]	Morray BH. Ventricular Septal Defect Closure Devices, Techniques, and Outcomes. Interv Cardiol Clin. 2019; 8 (1): 1-10. doi: 10.1016/j.iccl.2018.08.002.
[12]	Kuswiyanto RB, Gunawijaya E, Djer MM, et al. Transcatheter Closure of Perimembranous Ventricular Septal Defect Using the Lifetech Konar-Multi Functional Occluder: Early to Midterm Results of the Indonesian Multicenter Study. Glob Heart. 2022; 24; 17 (1): 15. doi: 10.5334/gh.1106.
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APA Style

Tim Schubert, Anoosh Esmaeili, Dietmar Schranz. (2023). Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD. American Journal of Pediatrics, 9(1), 1-4. https://doi.org/10.11648/j.ajp.20230901.11

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ACS Style

Tim Schubert; Anoosh Esmaeili; Dietmar Schranz. Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD. Am. J. Pediatr. 2023, 9(1), 1-4. doi: 10.11648/j.ajp.20230901.11

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AMA Style

Tim Schubert, Anoosh Esmaeili, Dietmar Schranz. Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD. Am J Pediatr. 2023;9(1):1-4. doi: 10.11648/j.ajp.20230901.11

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@article{10.11648/j.ajp.20230901.11,
  author = {Tim Schubert and Anoosh Esmaeili and Dietmar Schranz},
  title = {Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD},
  journal = {American Journal of Pediatrics},
  volume = {9},
  number = {1},
  pages = {1-4},
  doi = {10.11648/j.ajp.20230901.11},
  url = {https://doi.org/10.11648/j.ajp.20230901.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20230901.11},
  abstract = {Background Trisomy 18 syndrome, the second most common autosomal numerical chromosomal disorder, is associated with multiple-organ abnormalities. Cardiovascular malformations are just one of those affecting prenatal and postnatal life expectancy. In general, the type and scope of treatment are still controversial and are handled very differently. Palliative care usually focuses on improving quality of life or life-threatening conditions. Objective Based on parental treatment preferences for their child, we report the anticongestive drug treatment and consecutive transcatheter therapy of cardiac shunt lesions in a girl with trisomy 18 who was born small-for-date. Methods Anticongestive drug treatment was switched form diuretic-directed drug treatment to our standard care for chronic heart failure in infants, which consists of a ß1-specific beta-blocker (bisoprolol) in combination with an ACE-inhibitor (lisinopril) and a low-dose mineralocorticoid-blocker (spironolactone). In addition, the strategy and technique of semi-invasive transcatheter treatment of significant cardiovascular shunt lesions is reported. At 3 months of age and weighing 2.4kg, a significant arterial duct was first occluded percutaneously with an MVP-5Q device, followed by transcatheter closure of a slightly misaligned perimembranous VSD six weeks later. Both interventions were performed on a spontaneously breathing only sedated baby. Results The device strategy for treating the hemodynamically significant cardiovascular shunt lesions was technically feasible and effective in combination with medication. However, the medium- or long-term outcome cannot be defined due to the limitations caused by the syndrome. Conclusion As part of a medical risk-benefit assessment, the parents should make the decision as to whether their child should be treated or not; the responsible physicians have individually to offer the best treatment option.},
 year = {2023}
}

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TY  - JOUR
T1  - Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD
AU  - Tim Schubert
AU  - Anoosh Esmaeili
AU  - Dietmar Schranz
Y1  - 2023/01/17
PY  - 2023
N1  - https://doi.org/10.11648/j.ajp.20230901.11
DO  - 10.11648/j.ajp.20230901.11
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 1
EP  - 4
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20230901.11
AB  - Background Trisomy 18 syndrome, the second most common autosomal numerical chromosomal disorder, is associated with multiple-organ abnormalities. Cardiovascular malformations are just one of those affecting prenatal and postnatal life expectancy. In general, the type and scope of treatment are still controversial and are handled very differently. Palliative care usually focuses on improving quality of life or life-threatening conditions. Objective Based on parental treatment preferences for their child, we report the anticongestive drug treatment and consecutive transcatheter therapy of cardiac shunt lesions in a girl with trisomy 18 who was born small-for-date. Methods Anticongestive drug treatment was switched form diuretic-directed drug treatment to our standard care for chronic heart failure in infants, which consists of a ß1-specific beta-blocker (bisoprolol) in combination with an ACE-inhibitor (lisinopril) and a low-dose mineralocorticoid-blocker (spironolactone). In addition, the strategy and technique of semi-invasive transcatheter treatment of significant cardiovascular shunt lesions is reported. At 3 months of age and weighing 2.4kg, a significant arterial duct was first occluded percutaneously with an MVP-5Q device, followed by transcatheter closure of a slightly misaligned perimembranous VSD six weeks later. Both interventions were performed on a spontaneously breathing only sedated baby. Results The device strategy for treating the hemodynamically significant cardiovascular shunt lesions was technically feasible and effective in combination with medication. However, the medium- or long-term outcome cannot be defined due to the limitations caused by the syndrome. Conclusion As part of a medical risk-benefit assessment, the parents should make the decision as to whether their child should be treated or not; the responsible physicians have individually to offer the best treatment option.
VL  - 9
IS  - 1
ER  -

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Author Information

Tim Schubert

Department of Paediatrics, Division of Paediatric Cardiology, University Hospital of Frankfurt am Main, Frankfurt am Main, Germany
Anoosh Esmaeili

Department of Paediatrics, Division of Paediatric Cardiology, University Hospital of Frankfurt am Main, Frankfurt am Main, Germany
Dietmar Schranz

Department of Paediatrics, Division of Paediatric Cardiology, University Hospital of Frankfurt am Main, Frankfurt am Main, Germany

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Plain Text BibTeX RIS

APA Style

Tim Schubert, Anoosh Esmaeili, Dietmar Schranz. (2023). Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD. American Journal of Pediatrics, 9(1), 1-4. https://doi.org/10.11648/j.ajp.20230901.11

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ACS Style

Tim Schubert; Anoosh Esmaeili; Dietmar Schranz. Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD. Am. J. Pediatr. 2023, 9(1), 1-4. doi: 10.11648/j.ajp.20230901.11

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AMA Style

Tim Schubert, Anoosh Esmaeili, Dietmar Schranz. Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD. Am J Pediatr. 2023;9(1):1-4. doi: 10.11648/j.ajp.20230901.11

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@article{10.11648/j.ajp.20230901.11,
  author = {Tim Schubert and Anoosh Esmaeili and Dietmar Schranz},
  title = {Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD},
  journal = {American Journal of Pediatrics},
  volume = {9},
  number = {1},
  pages = {1-4},
  doi = {10.11648/j.ajp.20230901.11},
  url = {https://doi.org/10.11648/j.ajp.20230901.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20230901.11},
  abstract = {Background Trisomy 18 syndrome, the second most common autosomal numerical chromosomal disorder, is associated with multiple-organ abnormalities. Cardiovascular malformations are just one of those affecting prenatal and postnatal life expectancy. In general, the type and scope of treatment are still controversial and are handled very differently. Palliative care usually focuses on improving quality of life or life-threatening conditions. Objective Based on parental treatment preferences for their child, we report the anticongestive drug treatment and consecutive transcatheter therapy of cardiac shunt lesions in a girl with trisomy 18 who was born small-for-date. Methods Anticongestive drug treatment was switched form diuretic-directed drug treatment to our standard care for chronic heart failure in infants, which consists of a ß1-specific beta-blocker (bisoprolol) in combination with an ACE-inhibitor (lisinopril) and a low-dose mineralocorticoid-blocker (spironolactone). In addition, the strategy and technique of semi-invasive transcatheter treatment of significant cardiovascular shunt lesions is reported. At 3 months of age and weighing 2.4kg, a significant arterial duct was first occluded percutaneously with an MVP-5Q device, followed by transcatheter closure of a slightly misaligned perimembranous VSD six weeks later. Both interventions were performed on a spontaneously breathing only sedated baby. Results The device strategy for treating the hemodynamically significant cardiovascular shunt lesions was technically feasible and effective in combination with medication. However, the medium- or long-term outcome cannot be defined due to the limitations caused by the syndrome. Conclusion As part of a medical risk-benefit assessment, the parents should make the decision as to whether their child should be treated or not; the responsible physicians have individually to offer the best treatment option.},
 year = {2023}
}

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TY  - JOUR
T1  - Trisomy 18: Anti-Congestive Drug Treatment Combined with Transcatheter Occlusion of an Arterial Duct and Misaligned Perimembranous VSD
AU  - Tim Schubert
AU  - Anoosh Esmaeili
AU  - Dietmar Schranz
Y1  - 2023/01/17
PY  - 2023
N1  - https://doi.org/10.11648/j.ajp.20230901.11
DO  - 10.11648/j.ajp.20230901.11
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 1
EP  - 4
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20230901.11
AB  - Background Trisomy 18 syndrome, the second most common autosomal numerical chromosomal disorder, is associated with multiple-organ abnormalities. Cardiovascular malformations are just one of those affecting prenatal and postnatal life expectancy. In general, the type and scope of treatment are still controversial and are handled very differently. Palliative care usually focuses on improving quality of life or life-threatening conditions. Objective Based on parental treatment preferences for their child, we report the anticongestive drug treatment and consecutive transcatheter therapy of cardiac shunt lesions in a girl with trisomy 18 who was born small-for-date. Methods Anticongestive drug treatment was switched form diuretic-directed drug treatment to our standard care for chronic heart failure in infants, which consists of a ß1-specific beta-blocker (bisoprolol) in combination with an ACE-inhibitor (lisinopril) and a low-dose mineralocorticoid-blocker (spironolactone). In addition, the strategy and technique of semi-invasive transcatheter treatment of significant cardiovascular shunt lesions is reported. At 3 months of age and weighing 2.4kg, a significant arterial duct was first occluded percutaneously with an MVP-5Q device, followed by transcatheter closure of a slightly misaligned perimembranous VSD six weeks later. Both interventions were performed on a spontaneously breathing only sedated baby. Results The device strategy for treating the hemodynamically significant cardiovascular shunt lesions was technically feasible and effective in combination with medication. However, the medium- or long-term outcome cannot be defined due to the limitations caused by the syndrome. Conclusion As part of a medical risk-benefit assessment, the parents should make the decision as to whether their child should be treated or not; the responsible physicians have individually to offer the best treatment option.
VL  - 9
IS  - 1
ER  -

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