Characterization of untyped cardiac amyloidosis by mass spectrometry in a patient with Gly6Ser transthyretin polymorphism in fatal cardiogenic shock

Arch Cardiovasc Dis. 2014 Dec;107(12):706-8. doi: 10.1016/j.acvd.2012.09.008. Epub 2013 Sep 23.
No abstract available

Keywords: Amylose; Cardiac amyloidosis; Chaînes légères; Heart failure; Insuffisance cardiaque; Light chain; Mass spectrometry; Spectrométrie de masse.

Publication types

  • Case Reports

MeSH terms

  • Amyloid Neuropathies, Familial / complications
  • Amyloid Neuropathies, Familial / diagnosis
  • Amyloid Neuropathies, Familial / genetics*
  • Amyloid Neuropathies, Familial / physiopathology
  • Amyloid Neuropathies, Familial / therapy
  • Biomarkers / analysis
  • Biopsy
  • Cardiomyopathy, Hypertrophic / complications
  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics*
  • Cardiomyopathy, Hypertrophic / physiopathology
  • Cardiomyopathy, Hypertrophic / therapy
  • Echocardiography
  • Fatal Outcome
  • Genetic Predisposition to Disease
  • Humans
  • Immunoglobulin Light Chains / analysis
  • Male
  • Middle Aged
  • Phenotype
  • Plaque, Amyloid
  • Polymorphism, Genetic*
  • Prealbumin / analysis
  • Prealbumin / genetics*
  • Shock, Cardiogenic / diagnosis
  • Shock, Cardiogenic / etiology*
  • Tandem Mass Spectrometry*

Substances

  • Biomarkers
  • Immunoglobulin Light Chains
  • Prealbumin

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related