Ramos Hugo R, Sagripanti Marcelo, Sandrin Ángel, Balestrini Lorena, Balestrini Victor, Balestrini Valeria, Celorrio Verónica, Gigena Adriana, Coll Marcelo, Zelaya Félix, Quiroga Castro Walter, Conci Eduardo C
Instituto Modelo de Cardiología. División Cardiología.
Rev Fac Cien Med Univ Nac Cordoba. 2024 Dec 13;81(4):768-782. doi: 10.31053/1853.0605.v81.n4.44893.
Transthyretin Amyloid Cardiomyopathy (ATTR-CM) was considered an uncommon disease until a few years ago, but advances in the epidemiology and non-invasive diagnostic tests have increased its timely detection. We report a 71 years-old man with history of hypertension and an incidental carcinoma of the left kidney detected 6 years ago, without heart failure who was performed cardiac magnetic resonance images (MRI) by suspicion of hypertrophic cardiomyopathy. Before his cardiologist be aware of the result, he suffered a severe sustained ventricular tachycardia (SVT) that required emergency cardioversion. Echocardiogram and cardiac MRI were suggestive for cardiac amyloidosis and the diagnosis was confirmed by scintigraphy with PYPTc99m (Perugini +3). Serum levels of light chains kappa and lambda were normal, and serum and urine immunofixation were negative; a genetic test had no variants, so supporting an ATTR-CM wild type. PET-CT did not detect metastasis of the renal tumor, but showed cardiac hypermetabolism and pericardial effusion. An implantable cardioverter defibrillator (ICD) was placed and after nine days a shock was delivered by the ICD due to a new event of SVT; in addition a Holter monitoring registered runs of asymptomatic atrial fibrillation. Etiologic treatment for ATTR-CM with Tafamidis 61 mg was started, amiodarone and rivaroxaban were added for control of arrhythmias and prevention of systemic embolism, respectively. After 14 months of follow-up, he is stable in class I NYHA. ATTR-CM is a complex disease, and the treatments should be indicated by a multidisciplinary team that consider the risks, benefits, and costs of each intervention.
直到几年前,转甲状腺素蛋白淀粉样变心肌病(ATTR-CM)还被认为是一种罕见疾病,但流行病学和非侵入性诊断测试的进展提高了其早期检测率。我们报告一名71岁男性,有高血压病史,6年前偶然发现左肾肿瘤,无心力衰竭,因怀疑肥厚型心肌病接受了心脏磁共振成像(MRI)检查。在他的心脏病专家得知检查结果之前,他发生了严重持续性室性心动过速(SVT),需要紧急心脏复律。超声心动图和心脏MRI提示心脏淀粉样变性,锝99m标记的焦磷酸钠闪烁扫描(佩鲁吉尼+3)证实了诊断。血清κ和λ轻链水平正常,血清和尿液免疫固定电泳均为阴性;基因检测未发现变异,因此支持野生型ATTR-CM。PET-CT未检测到肾肿瘤转移,但显示心脏代谢亢进和心包积液。植入了植入式心脏复律除颤器(ICD),九天后,由于再次发生SVT,ICD进行了一次电击;此外,动态心电图监测记录到无症状性房颤发作。开始使用61毫克塔非米迪斯对ATTR-CM进行病因治疗,分别加用胺碘酮和利伐沙班控制心律失常和预防系统性栓塞。经过14个月的随访,他的心功能纽约心脏协会(NYHA)分级为I级,病情稳定。ATTR-CM是一种复杂疾病,治疗应由多学科团队根据每种干预措施的风险、益处和成本来确定。