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Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.

Ana-Maria Merino-MerinoJorge Labrador-GomezEster Sanchez-CorralPedro-David Delgado-LopezJosé Ángel Pérez-Rivera
Published in: Biomedicines (2023)
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur. Currently, genetic testing for transthyretin pathogenic variants is recommended for patients with a confirmed clinical diagnosis of ATTR-CM. In fact, confirmation of this autosomal dominant pathogenic variant prompts genetic counselling and allows early identification of affected relatives. Additionally, in the presence of an ATTR-CM-associated polyneuropathy, specific drugs targeting transthyretin can be used. In this paper, we review the utility of genetic testing for the detection of pathogenic variants among patients harboring ATTR-CM and its impact on the natural history of the disease.
Keyphrases
  • wild type
  • copy number
  • heart failure
  • multiple myeloma
  • gene expression
  • genome wide
  • dna methylation
  • cancer therapy
  • human immunodeficiency virus
  • hepatitis c virus
  • sensitive detection
  • hiv infected
  • quantum dots