Berry Gerard T, Blume Elizabeth D, Wessel Ann, Singh Tajinder, Hecht Leah, Marsden Deborah, Sahai Inderneel, Elisofon Scott, Ferguson Michael, Kim Heung Bae, Harris David J, Demirbas Didem, Almuqbil Mohammed, Nyhan William L
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA.
Department of Cardiology, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA.
JIMD Rep. 2020 Apr 8;54(1):3-8. doi: 10.1002/jmd2.12119. eCollection 2020 Jul.
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.
心肌病是丙酸血症(PA)的常见并发症。它通常是致命的,其发生在很大程度上独立于经典的代谢治疗方式。肝移植(LT)是治疗严重PA的一种选择,因为肝脏在PA患者体内积累的前体物质的代谢中起着至关重要的作用。PA患者的肝移植现在被认为是预防心脏病的一种持久且有效的治疗方法。本报告的患者患有严重的心肌病,在接受肝移植之前基本消失。移植三年后,在一次并发术后吸入性肺炎的手术后,心肌病复发。在他最后一次入院时,出现了肺水肿和心力衰竭。尽管给予了最大剂量的强心和利尿支持,他仍持续出现顽固性低血压发作。在改变治疗方向后,他去世了。我们得出结论,PA患者在成功进行肝移植数年之后可能会发生致命性心肌病。