Hereditary transthyretin amyloid cardiomyopathy caused by the rare TTR p.Ser43Asn variant in an Asian family: a case report - Summary - MDSpire

Hereditary transthyretin amyloid cardiomyopathy caused by the rare TTR p.Ser43Asn variant in an Asian family: a case report

  • By

  • Bo Song

  • Youfu He

  • Xinghui Liu

  • Hui Liu

  • Fawang Du

  • Jiren Wang

  • Hongwen Tan

  • Changhai Zhang

  • Ping Zhang

  • June 8, 2026

  • 0 min

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Objective:

To describe a mainland Chinese family carrying the rare TTR c.128G > A (p.Ser43Asn) variant.

Key Findings:
  • The proband exhibited left ventricular hypertrophy, concentric left ventricular wall thickening, and reduced systolic function.
  • Technetium-99 m pyrophosphate scintigraphy indicated grade 3 myocardial uptake consistent with transthyretin cardiac amyloidosis.
  • Genetic testing revealed a heterozygous c.128G > A (p.Ser43Asn) variant in the TTR gene.
Interpretation:

Limitations:
  • The study is based on a single family case, limiting generalizability.
  • Limited data on the clinical implications of the rare variant in broader populations.
Conclusion:

Original Source(s)

Hereditary transthyretin amyloid cardiomyopathy caused by the rare TTR p.Ser43Asn variant in an Asian family: a case report

  • by Bo Song, Youfu He, Xinghui Liu, Hui Liu, Fawang Du, Jiren Wang, Hongwen Tan, Changhai Zhang, Ping Zhang

  • June 8, 2026

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