Lauwers Charlotte, Rosseel Thomas, Droogné Walter, Van Aelst Lucas N L, Van Cleemput Johan
Department of Cardiovascular Diseases, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Department of Cardiovascular Sciences, campus Gasthuisberg, O&N1, Herestraat 49 box 911, 3000 Leuven, Belgium.
Eur Heart J Case Rep. 2024 May 8;8(8):ytae242. doi: 10.1093/ehjcr/ytae242. eCollection 2024 Aug.
Transthyretin (ATTR) amyloidosis is more prevalent than initially thought. As much as 13% of patients hospitalized with heart failure with preserved ejection fraction may have ATTR-cardiomyopathy (CM). Conversely, heart transplant patients may manifest left ventricular hypertrophy or diastolic dysfunction, especially late after transplantation.
We present a case of a 82-year-old male heart transplant patient, 31 years following orthotopic heart transplantation. While he was satisfied with his exercise capacity as an octogenarian, several years before, he required pacemaker implantation due to third-degree atrioventricular block, had bilateral carpal tunnel syndrome treated with carpal tunnel release surgery, and experienced idiopathic sudden deafness. Based on increasing left ventricular wall thickness during routine follow-up, a diagnosis of ATTR amyloidosis was suspected. Ultimately, the diagnosis was confirmed non-invasively with a specific scintigraphic exam, while an additional physicochemical stain on an endomyocardial biopsy taken several years before provided pathological proof. We initiated tafamidis, yet stopped this treatment after 1 month because of gastrointestinal intolerance. Ultimately, our patient died 2 years later due to heart failure.
Our case shows the long delay between the onset of ATTR deposition, the presence of clinical signs, and the final diagnosis. Echocardiographic findings suggestive for ATTR-CM include left ventricular hypertrophy and diastolic dysfunction, which are both common in heart transplant patients. Yet, ATTR-CM should be considered in the differential diagnosis, especially late after transplantation, in this closely monitored population.
转甲状腺素蛋白（ATTR）淀粉样变性比最初认为的更为普遍。在射血分数保留的心力衰竭住院患者中，多达13%可能患有ATTR心肌病（CM）。相反，心脏移植患者可能表现出左心室肥厚或舒张功能障碍，尤其是在移植后期。
我们报告一例82岁男性心脏移植患者，原位心脏移植术后31年。尽管作为一名八旬老人，他对自己的运动能力感到满意，但几年前，他因三度房室传导阻滞需要植入起搏器，接受了腕管松解手术治疗双侧腕管综合征，并经历了特发性突发性耳聋。基于常规随访期间左心室壁厚度增加，怀疑患有ATTR淀粉样变性。最终，通过特定的闪烁扫描检查非侵入性地确诊，而几年前进行的心肌内膜活检的额外物理化学染色提供了病理证据。我们开始使用他氟米特，但由于胃肠道不耐受，1个月后停止了这种治疗。最终，我们的患者2年后因心力衰竭死亡。
我们的病例显示了ATTR沉积开始、临床症状出现与最终诊断之间的长时间延迟。提示ATTR-CM的超声心动图表现包括左心室肥厚和舒张功能障碍，这在心脏移植患者中都很常见。然而，在这个密切监测的人群中，尤其是在移植后期，鉴别诊断时应考虑ATTR-CM。
