Amyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have been described, with extensive phenotypic heterogeneity. Val30Met (p.Val50Met) is the most frequent mutation, and patients exhibit polyneuropathy, possibly including cardiac, renal, gastrointestinal, and/or ocular involvement. Val122Ile (p.Val142Ile) is the mutation associated with cardiomyopathy, and few cases have been reported in Brazil. Most individuals are heterozygous for one pathogenic mutation. Herein, we report a compound heterozygote with two pathogenic mutations (Val30Met/ Val122Ile), and a family history of a deceased brother with amyloidosis, who also carried the same TTR gene mutations. The patient presented with neuropathic, cardiac, and renal impairment and a faster disease progression. Cases of the double mutation have been linked to changes in disease presentation. The concomitance of two pathogenic mutations may have contributed to more exuberant manifestations and faster disease progression.

由运甲状腺素蛋白（TTR）基因突变引起的淀粉样变性病是最常见的遗传型疾病。已经描述了超过120个突变，具有广泛的表型异质性。Val30Met（p.Val50Met）是最常见的突变，患者表现出多发性神经病，可能包括心脏，肾脏，胃肠道和/或眼部受累。Val122Ile（p.Val142Ile）是与心肌病相关的突变，巴西报道的病例很少。大多数个体对于一种致病突变是杂合的。在本文中，我们报道了一种具有两个致病性突变（Val30Met / Val122Ile）的复合杂合子，以及一个死者患有淀粉样变性病的兄弟的家族史，后者也携带相同的TTR基因突变。该患者出现神经性，心脏和肾功能不全，疾病进展更快。双重突变的病例与疾病表现的改变有关。两个病原体突变的共存可能导致了更多的旺盛表现和更快的疾病进展。