Skip to main content

Table 5 Cardiologic presentation distributions of hATTR cases

From: Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China

Feature All Gly83Arg Val30Met Val30Ala Leu55Arg Ala36Pro Lys35Thr Gly47Arg Asp18Gly Gly47Glu Ala117Ser Othera
(p.Gly103Arg) (p.Val50Met) (p.Val50Ala) (p.Leu75Arg) (p.Ala56Pro) (p.Lys55Thr) (p.Gly67Arg) (p.Asp38Gly) (p.Gly67Glu) (p.Ala137Ser)
N 126 25 20 10 9 9 8 6 6 6 4 23
Cardiologic 39 1 3 10 0 2 0 6 0 4 2 11
Ventricular wall thickness 36 1 2 9 0 2 0 6 0 4 2 10
AV block/bundle-branch block 10 1 1 6 0 0 0 0 0 0 1 1
Heart failure 9 0 0 0 0 1 0 0 0 4 2 2
Pericardial effusion 1 0 0 0 0 0 0 0 0 0 0 1
Amyloid deposition 1 0 0 1 0 0 0 0 0 0 0 0
  1. a Genotypes with no more than 3 subjects.including Phe33Val (three subjects); Glu54Lys, Phe33Leu, Val50Leu, Thr49Ala, Leu75Pro (two subjects each), Tyr114Cys, Ile107Met, Lys35Asn, Asp38Val, Gly53Glu, Glu54Gln, Glu42Gly, Tyr116Ser, Phe84Ser, Glu74Lys (one subject each)