尽管多次 Tc-PYP 放射性核素扫描结果均为阴性，但仍存在伪装成晚期梗阻性肥厚型心肌病的隐匿性转甲状腺素蛋白淀粉样变性。
Covert Transthyretin Amyloidosis Mimicking Advanced Obstructive Hypertrophic Cardiomyopathy Despite Multiple Negative Tc-PYP Radionuclide Scans.
作者信息
Reuter Maria, Wu Woon, Massera Daniele, Phillips Lawrence, Zhou Fang, Alvarez-Cardona Jose, Reyentovich Alex, Larson Daniel, Maleszewski Joseph, Sherrid Mark
机构信息
Hypertrophic Cardiomyopathy Program, NYU Langone Health, New York, New York, USA.
Division of Cardiology, NYU Langone Health, New York, New York, USA.
出版信息
JACC Case Rep. 2025 Sep 3;30(26):104918. doi: 10.1016/j.jaccas.2025.104918.
BACKGROUND
We present the case of a 74-year-old woman diagnosed with obstructive hypertrophic cardiomyopathy.
CASE SUMMARY
Amyloidosis was initially considered because she was genotype positive in the transthyretin gene. However, because of 2 negative 99m technetium pyrophosphate radionuclide scans, this diagnosis was considered unlikely, and endomyocardial biopsy was deferred. She had an adverse response to all attempted medical therapies for her left ventricular outflow tract obstruction and ultimately underwent surgical myectomy. Surgical pathology revealed transthyretin (TTR) amyloidosis.
DISCUSSION
This case highlights the limitations of diagnostic testing and reinforces the consideration of more invasive procedures to determine the true underlying cause of disease. This helps clinicians provide the most advanced level of treatment available.
TAKE-HOME MESSAGES: TTR amyloidosis can mimic hypertrophic cardiomyopathy with left ventricular outflow tract obstruction. 99m Technetium pyrophosphate scans are useful to investigate the presence of TTR amyloid, but if suspicion persists despite negative testing, it is reasonable to perform an endomyocardial biopsy.
背景
我们报告一例74岁女性被诊断为梗阻性肥厚型心肌病的病例。
病例摘要
最初考虑为淀粉样变性，因为她在转甲状腺素蛋白基因检测中呈基因型阳性。然而，由于两次99m锝焦磷酸盐放射性核素扫描结果均为阴性，该诊断被认为不太可能，心内膜活检被推迟。她对所有针对左心室流出道梗阻尝试的药物治疗均有不良反应，最终接受了外科心肌切除术。手术病理显示为转甲状腺素蛋白（TTR）淀粉样变性。
讨论
该病例突出了诊断检测的局限性，并强调了考虑采用更具侵入性的检查来确定疾病真正潜在病因的重要性。这有助于临床医生提供现有的最先进治疗水平。
要点
TTR淀粉样变性可表现为伴有左心室流出道梗阻的肥厚型心肌病。99m锝焦磷酸盐扫描有助于检测TTR淀粉样变性的存在，但如果检测结果为阴性但仍有怀疑，进行心内膜活检是合理的。
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