PDF(Pubmed)
Abstract：
UNASSIGNED: Cardiomyopathy caused by aggregation and deposition of transthyretin amyloid fibrils in the heart (ATTR-CM) is divided into a hereditary (ATTRv) and a wild-type (ATTRwt) forms. While ATTR-CM has been considered a rare disease, recent studies suggest that it is severely underdiagnosed and an important cause of heart failure in elderly patients. Familial occurrence is implicit in ATTRv, but it is not expected in ATTRwt.
UNASSIGNED: We report a case series of two unrelated families each with two brothers diagnosed with ATTRwt. Genetic testing did not reveal mutations in the transthyretin gene. Family screening with electrocardiogram, echocardiography, and genetic testing did not raise any suspicion of ATTR in first-line family members.
UNASSIGNED: Familial occurrence of a rare, non-hereditary disease is statistically unlikely. Two siblings in two different families diagnosed with ATTRwt highlight that the aetiology of ATTRwt is poorly understood, and that genetic factors distinct from mutations in the transthyretin gene, as well as environmental factors, might contribute to the pathogenesis. Identifying such factors might reveal new therapeutic targets. To investigate this further, clinicians need to be aware of the possibility of familial occurrence of ATTRwt.
UNASSIGNED: We report a case series of two unrelated families each with two brothers diagnosed with ATTRwt. Genetic testing did not reveal mutations in the transthyretin gene. Family screening with electrocardiogram, echocardiography, and genetic testing did not raise any suspicion of ATTR in first-line family members.
UNASSIGNED: Familial occurrence of a rare, non-hereditary disease is statistically unlikely. Two siblings in two different families diagnosed with ATTRwt highlight that the aetiology of ATTRwt is poorly understood, and that genetic factors distinct from mutations in the transthyretin gene, as well as environmental factors, might contribute to the pathogenesis. Identifying such factors might reveal new therapeutic targets. To investigate this further, clinicians need to be aware of the possibility of familial occurrence of ATTRwt.
摘要：
■由甲状腺素运载蛋白淀粉样原纤维在心脏中的聚集和沉积(ATTR-CM)引起的心肌病分为遗传性(ATTRv)和野生型(ATTRwt)形式。虽然ATTR-CM被认为是一种罕见的疾病，最近的研究表明，它是严重低估和老年患者心力衰竭的重要原因。家族性发生在ATTRv中是隐含的，但它不是在ATTRwt。
■我们报告了两个无关家庭的病例系列，每个家庭有两个兄弟被诊断为ATTRwt。基因检测未发现运甲状腺素蛋白基因的突变。家庭心电图筛查，超声心动图,基因检测并未引起一线家庭成员对ATTR的任何怀疑.
■家族性罕见，非遗传性疾病在统计学上不太可能。诊断为ATTRwt的两个不同家庭的两个兄弟姐妹强调ATTRwt的病因知之甚少，遗传因素不同于甲状腺素运载蛋白基因的突变，以及环境因素，可能有助于发病机制。识别这些因素可能会揭示新的治疗目标。为了进一步调查，临床医生需要意识到ATTRwt家族性发生的可能性.
■我们报告了两个无关家庭的病例系列，每个家庭有两个兄弟被诊断为ATTRwt。基因检测未发现运甲状腺素蛋白基因的突变。家庭心电图筛查，超声心动图,基因检测并未引起一线家庭成员对ATTR的任何怀疑.
■家族性罕见，非遗传性疾病在统计学上不太可能。诊断为ATTRwt的两个不同家庭的两个兄弟姐妹强调ATTRwt的病因知之甚少，遗传因素不同于甲状腺素运载蛋白基因的突变，以及环境因素，可能有助于发病机制。识别这些因素可能会揭示新的治疗目标。为了进一步调查，临床医生需要意识到ATTRwt家族性发生的可能性.
