METHODS: Here, we report on a 73-year old patient initially diagnosed with cardiac wild-type ATTR (ATTRwt) amyloidosis by endomyocardial biopsy. Molecular genetic analysis revealed a novel TTR sequence variant (p.Ala65Val) that is highly likely to be amyloidogenic in light of previously reported TTR mutations and the patient\'s clinical presentation and family history.
CONCLUSIONS: Our findings expand the spectrum of known pathogenic TTR mutations and underline the importance of a thorough diagnostic workup in amyloidosis patients including careful genetic testing to avoid misdiagnosis and missing of treatment opportunities and to enable cascade testing and tracking of carriers.
方法:这里,我们报道了一名73岁的患者,该患者最初通过心内膜活检诊断为心脏野生型ATTR(ATTRwt)淀粉样变性.分子遗传分析揭示了一种新的TTR序列变体(p。Ala65Val),根据先前报道的TTR突变以及患者的临床表现和家族史,极有可能是淀粉样变性的。
结论:我们的发现扩大了已知致病性TTR突变的范围,并强调了对淀粉样变性患者进行彻底诊断检查的重要性,包括仔细的基因检测,以避免误诊和错过治疗机会,并能够进行级联检测和跟踪携带者。