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Familial occurrences of cardiac wild-type transthyretin amyloidosis: a case series.

Oscar M WestinTor S ClemmensenAnne Tybjærg HansenFinn GustafssonSteen Hvitfeldt Poulsen
Published in: European heart journal. Case reports (2024)
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.
Keyphrases
  • wild type
  • genome wide
  • early onset
  • risk assessment
  • copy number
  • palliative care
  • left ventricular
  • dna methylation
  • single cell
  • intellectual disability
  • multiple myeloma
  • genome wide identification