تقرير
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
| العنوان: | The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. |
|---|---|
| المؤلفون: | Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Blume ED; Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Wessel A; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Singh T; Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Hecht L; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Marsden D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Sahai I; Pediatrics-Genetics Department, Massachusetts General Hospital Harvard Medical School Boston Massachusetts USA., Elisofon S; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Ferguson M; Division of Nephrology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Kim HB; Department of Surgery, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Harris DJ; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Demirbas D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Almuqbil M; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA., Nyhan WL; Department of Pediatrics University of California San Diego La Jolla California USA. |
| المصدر: | JIMD reports [JIMD Rep] 2020 Apr 08; Vol. 54 (1), pp. 3-8. Date of Electronic Publication: 2020 Apr 08 (Print Publication: 2020). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Publication: 2019- : [Hoboken, NJ] : Wiley Original Publication: Berlin : SSIEM and Springer-Verlag, c2011. |
| مستخلص: | Cardiomyopathy is a frequent complication of propionic acidemia (PA). It is often fatal, and its occurrence is largely independent of classic metabolic treatment modalities. Liver transplantation (LT) is a treatment option for severe PA as the liver plays a vital role in metabolism of the precursors that accumulate in patients with PA. LT in PA is now considered to be a long-lasting and valid treatment to prevent cardiac disease. The subject of this report had severe cardiomyopathy that largely disappeared prior to undergoing a LT. Three years following the transplant, there was recurrence of cardiomyopathy following a surgery that was complicated with a postoperative aspiration pneumonia. On his last hospital admission, he was presented with pulmonary edema and heart failure. He continued with episodes of intractable hypotension, despite maximum inotropic and diuretic support. He died following redirection of care. We conclude that lethal cardiomyopathy may develop several years after successful LT in patients with PA. (© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.) |
| References: | Am J Transplant. 2015 Mar;15(3):786-91. (PMID: 25683683) Pediatr Transplant. 2006 Nov;10(7):773-81. (PMID: 17032422) Pediatr Transplant. 2009 Sep;13(6):790-3. (PMID: 19207227) Liver Transpl. 2018 Sep;24(9):1260-1270. (PMID: 30080956) Pediatr Transplant. 2012 May;16(3):209-10. (PMID: 22332632) Liver Transpl. 2018 Dec;24(12):1736-1745. (PMID: 30242960) Orphanet J Rare Dis. 2013 Sep 23;8:148. (PMID: 24059531) Paediatr Anaesth. 2003 Jul;13(6):554-6. (PMID: 12846721) Clin Res Hepatol Gastroenterol. 2012 Jun;36(3):304-7. (PMID: 22541063) J Pediatr. 2010 Jan;156(1):128-34. (PMID: 19818452) Mol Genet Metab. 2017 Dec;122(4):145-152. (PMID: 29033250) Liver Transpl. 2011 Jun;17(6):661-7. (PMID: 21618686) Liver Transpl. 2019 Jan;25(1):176-177. (PMID: 30375139) J Inherit Metab Dis. 2004;27(2):205-10. (PMID: 15159651) JIMD Rep. 2020 Apr 08;54(1):3-8. (PMID: 32685343) J Inherit Metab Dis. 2013 Jul;36(4):675-80. (PMID: 23296369) Transplant Proc. 2002 Aug;34(5):1964-5. (PMID: 12176647) J Inherit Metab Dis. 2001 Apr;24(2):309-11. (PMID: 11405351) Liver Transpl. 2015 Sep;21(9):1208-18. (PMID: 25990417) Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9. (PMID: 10603102) Pediatr Transplant. 2012 May;16(3):230-4. (PMID: 22151065) Transpl Int. 2015 Dec;28(12):1447-50. (PMID: 26358860) J Pediatr. 2011 May;158(5):866-7; author reply 867. (PMID: 21324476) |
| فهرسة مساهمة: | Keywords: cardiomyopathy; heart failure; heart transplantation; liver transplantation; organic acid disorder; propionic acidemia |
| تواريخ الأحداث: | Date Created: 20200721 Latest Revision: 20240329 |
| رمز التحديث: | 20240329 |
| مُعرف محوري في PubMed: | PMC7358669 |
| DOI: | 10.1002/jmd2.12119 |
| PMID: | 32685343 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2192-8304 |
|---|---|
| DOI: | 10.1002/jmd2.12119 |