title: Amyloid Cardiomyopathy in Hereditary Transthyretin V30M Amyloidosis - Impact of Sex and Amyloid Fibril Composition.
abstract: OBJECTIVE
  Transthyretin V30M (ATTR V30M) amyloidosis is a phenotypically diverse disease with symptoms ranging from predominant neuropathy to exclusive cardiac manifestations. The aims of this study were to determine the dispersion of the two types of fibrils found in Swedish ATTR V30M patients -Type A consisting of a mixture of truncated and full length ATTR fibrils and type B fibrils consisting of full length fibrils, and to estimate the severity of cardiac dysfunction in relation to fibril composition and sex.
  
  
  METHODS
  Echocardiographic data were analysed in 107 Swedish ATTR V30M patients with their fibril composition determined as either type A or type B. Measurements of left ventricular (LV) dimensions and evaluation of systolic and diastolic function including speckle tracking derived strain were performed. Patients were grouped according to fibril type and sex. Multivariate linear regression was utilised to determine factors of significant impact on LV thickness.
  
  
  RESULTS
  There was no significant difference in proportions of the two types of fibrils between men and women. In patients with type A fibrils, women had significantly lower median septal (p = 0.007) and posterior wall thicknesses (p = 0.010), lower median LV mass indexed to height (p = 0.008), and higher septal strain (p = 0.037), as compared to males. These differences were not apparent in patients with type B fibrils. Multiple linear regression analysis revealed that fibril type, sex and age all had significant impact on LV septal thickness.
  
  
  CONCLUSIONS
  This study demonstrates a clear difference between sexes in the severity of amyloid heart disease in ATTR V30M amyloidosis patients. Even though type A fibrils were associated with more advanced amyloid heart disease compared to type B, women with type A fibrils generally developed less cardiac infiltration than men. The differences may explain the better outcome for liver transplanted late-onset female patients compared to males.
authors.affiliation: Department of Clinical Physiology, Heart Centre, Umeå University, Umeå, Sweden.|Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
authors.forename: Sandra
authors.initials: S
authors.lastname: Arvidsson
authors.affiliation: Department of Cardiology, Heart Centre, Umeå University, Umeå, Sweden.|Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
authors.forename: Björn
authors.initials: B
authors.lastname: Pilebro
authors.affiliation: Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
authors.forename: Per
authors.initials: P
authors.lastname: Westermark
authors.affiliation: Department of Clinical Physiology, Heart Centre, Umeå University, Umeå, Sweden.|Department of Surgical and Perioperative Sciences, Umeå University, Umeå, Sweden.
authors.forename: Per
authors.initials: P
authors.lastname: Lindqvist
authors.affiliation: Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
authors.forename: Ole B
authors.initials: OB
authors.lastname: Suhr
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000682:Amyloid / Q000378:metabolism*; D028227:Amyloid Neuropathies, Familial / Q000378:metabolism*; D009202:Cardiomyopathies / Q000378:metabolism*; D004452:Echocardiography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000378:metabolism; D012737:Sex Factors
chemical_list: D000682:Amyloid; D011228:Prealbumin