The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation
Abstract 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 p...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-07-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12119 |
| _version_ | 1818259936041238528 |
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| author | Gerard T. Berry Elizabeth D. Blume Ann Wessel Tajinder Singh Leah Hecht Deborah Marsden Inderneel Sahai Scott Elisofon Michael Ferguson Heung Bae Kim David J. Harris Didem Demirbas Mohammed Almuqbil William L. Nyhan |
| author_facet | Gerard T. Berry Elizabeth D. Blume Ann Wessel Tajinder Singh Leah Hecht Deborah Marsden Inderneel Sahai Scott Elisofon Michael Ferguson Heung Bae Kim David J. Harris Didem Demirbas Mohammed Almuqbil William L. Nyhan |
| author_sort | Gerard T. Berry |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-12T18:23:21Z |
| format | Article |
| id | doaj.art-ab2641ca9a6d489a88e3074f2d6a20bb |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-12T18:23:21Z |
| publishDate | 2020-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-ab2641ca9a6d489a88e3074f2d6a20bb2022-12-22T00:16:05ZengWileyJIMD Reports2192-83122020-07-015413810.1002/jmd2.12119The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T. Berry0Elizabeth D. Blume1Ann Wessel2Tajinder Singh3Leah Hecht4Deborah Marsden5Inderneel Sahai6Scott Elisofon7Michael Ferguson8Heung Bae Kim9David J. Harris10Didem Demirbas11Mohammed Almuqbil12William L. Nyhan13Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADepartment of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADepartment of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USAPediatrics‐Genetics Department, Massachusetts General Hospital Harvard Medical School Boston Massachusetts USADivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Nephrology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADepartment of Surgery, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USADepartment of Pediatrics University of California San Diego La Jolla California USAAbstract 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.https://doi.org/10.1002/jmd2.12119cardiomyopathyheart failureheart transplantationliver transplantationorganic acid disorderpropionic acidemia |
| spellingShingle | Gerard T. Berry Elizabeth D. Blume Ann Wessel Tajinder Singh Leah Hecht Deborah Marsden Inderneel Sahai Scott Elisofon Michael Ferguson Heung Bae Kim David J. Harris Didem Demirbas Mohammed Almuqbil William L. Nyhan The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation JIMD Reports cardiomyopathy heart failure heart transplantation liver transplantation organic acid disorder propionic acidemia |
| title | The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation |
| title_full | The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation |
| title_fullStr | The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation |
| title_full_unstemmed | The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation |
| title_short | The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation |
| title_sort | re occurrence of cardiomyopathy in propionic acidemia after liver transplantation |
| topic | cardiomyopathy heart failure heart transplantation liver transplantation organic acid disorder propionic acidemia |
| url | https://doi.org/10.1002/jmd2.12119 |
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