Mouksian Kristina, Ammon Jessica, Pullen Drenda, Zhang Qiuhua, Yedlapati Neeraja, Jefferies John Lynn
Department of Internal Medicine, Division of Cardiovascular Disease, University of Tennessee Health Science Center, Memphis, TN 38103, USA.
Methodist Le Bonheur Healthcare, Memphis, TN 38104, USA.
J Cardiovasc Dev Dis. 2023 Jan 1;10(1):13. doi: 10.3390/jcdd10010013.
Transthyretin cardiac amyloidosis (ATTR) is a life-threatening, debilitating disease caused by abnormal formation and deposit of transthyretin (TTR) protein in multiple tissues, including myocardial extracellular matrix. It can be challenging to diagnose due to the myriad of presenting signs and symptoms. Additionally, numerous TTR mutations exist in certain ethnicities. Interestingly, our patient was discovered to have a very rare Gly67Ala TTR mutation typically not found in individuals of Asian descent. Recent advances in cardiovascular imaging techniques have allowed for earlier recognition and, therefore, management of this disease. Although incurable, there are now new, emerging treatments that are available for symptom control of cardiac amyloidosis, making early diagnosis vital for these patients, specifically their quality of life.
We outline a case of a 50-year-old Asian female who was initially hospitalized for nausea and vomiting and persistent orthostatic hypotension. She underwent a multitude of laboratory and imaging tests, resulting in a diagnosis of cardiac amyloidosis, which was confirmed to be due to a rare TTR mutation via genetic testing.
Our objective is to describe various TTR mutations, existing diagnostic imaging modalities, and available treatments, as well as highlight the importance of early screening and awareness of cardiac amyloidosis, allowing for quicker diagnosis and treatment of this disease.
转甲状腺素蛋白心脏淀粉样变（ATTR）是一种危及生命、使人衰弱的疾病，由转甲状腺素蛋白（TTR）在包括心肌细胞外基质在内的多个组织中异常形成和沉积所致。由于其表现出的众多体征和症状，诊断可能具有挑战性。此外，在某些种族中存在大量TTR突变。有趣的是，我们的患者被发现有一种非常罕见的Gly67Ala TTR突变，这种突变在亚洲血统个体中通常不存在。心血管成像技术的最新进展使得能够更早地识别并因此管理这种疾病。尽管无法治愈，但现在有新出现的治疗方法可用于控制心脏淀粉样变的症状，这使得早期诊断对这些患者，特别是对他们的生活质量至关重要。
我们概述了一例50岁亚洲女性的病例，她最初因恶心、呕吐和持续性直立性低血压住院。她接受了多项实验室和影像学检查，诊断为心脏淀粉样变，通过基因检测证实是由一种罕见的TTR突变引起的。
我们的目的是描述各种TTR突变、现有的诊断成像方式和可用的治疗方法，以及强调早期筛查和认识心脏淀粉样变的重要性，以便更快地诊断和治疗这种疾病。
