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

Table 5 Cardiologic presentation distributions of hATTR cases

Feature	All	Gly83Arg	Val30Met	Val30Ala	Leu55Arg	Ala36Pro	Lys35Thr	Gly47Arg	Asp18Gly	Gly47Glu	Ala117Ser	Other^a
Feature	All	(p.Gly103Arg)	(p.Val50Met)	(p.Val50Ala)	(p.Leu75Arg)	(p.Ala56Pro)	(p.Lys55Thr)	(p.Gly67Arg)	(p.Asp38Gly)	(p.Gly67Glu)	(p.Ala137Ser)	Other^a
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

^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)

ISSN: 1750-1172