Genetic analysis of a pedigree of transthyretin amyloid cardiomyopathy
Aim:To investigate the genetic features of transthyretin amyloid cardiomyopathy(ATTR-CM).Methods:Clinical phenotypes of a case of ATTR-CM with preexisting heart failure due to myocardial hypertrophy as the main clinical feature were analyzed.Mutations in the transthyretin(TTR)gene in this pedigree were analyzed and genetically validated by Sanger sequencing validation.Results:The proband had an early onset age and complicated clinical symptoms.Gene se-quencing results showed that the proband and his sister,nephew,daughter had heterozygous mutation of TTR gene c.A163G(p.Lys55Glu).Conclusion:This study discovered the ATTR-CM caused by TTR gene c.A163G(p.Lys55Glu)mutation.Abnormal TTR deposition mainly affects the heart,with complex and atypical symptoms.
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