Yarrarapu Siva Naga S, Dalia Tarun, Boda Ilham, Goyal Amandeep, Vidic Andrija, Shah Zubair
Internal Medicine, Monmouth Medical Center, Long Branch, USA.
Cardiology/Advanced Heart Failure, University of Kansas, Kansas City, USA.
Cureus. 2024 Jul 31;16(7):e65891. doi: 10.7759/cureus.65891. eCollection 2024 Jul.
Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominant, adult-onset disease that stems from point mutations in the TTR gene encoding the protein transthyretin. The disease is progressive and life-threatening and is associated with amyloid deposits in multiple organs including the heart, kidney, skin, eyes, nervous system, and gastrointestinal tract. Genotypic and phenotypic heterogeneity is a characteristic hallmark of hereditary transthyretin amyloidosis. Herein, we present a rare variant of hATTR cardiomyopathy secondary to Ser97Tyr mutation, having been documented only in a handful of families previously. This case serves as a valuable opportunity to elucidate the clinico-pathogenesis of this disease, highlight the aggressive nature of this genetic mutation (c.290C>A; p.Ser97Tyr), and document the response to the latest advances in treatment currently available.
遗传性转甲状腺素蛋白淀粉样变性（hATTR）是一种常染色体显性、成人发病的疾病，源于编码转甲状腺素蛋白的TTR基因突变。该疾病呈进行性发展且危及生命，与包括心脏、肾脏、皮肤、眼睛、神经系统和胃肠道在内的多个器官中的淀粉样沉积物有关。基因型和表型异质性是遗传性转甲状腺素蛋白淀粉样变性的一个特征性标志。在此，我们报告了一例继发于Ser97Tyr突变的hATTR心肌病罕见变异型，此前仅在少数家族中有记录。该病例为阐明该疾病的临床发病机制、突出这种基因突变（c.290C>A；p.Ser97Tyr）的侵袭性以及记录对当前可用最新治疗进展的反应提供了宝贵机会。
