Table 1.

Summary of Chinese patients with hereditary transthyretin cardiac amyloidosis

Patient No.	Sex	Age at onset (years)	Age at diagnosis (years)	Mutation	Initial manifestation	Cardiac abnormalities	Phenotype	Positive tissue biopsy
1	M	33	34	Gly47Arg	Paresthesia	CA, HF, A	Mixed	G H AF PN
2	M	49	50	Gly47Glu	Orthostatic hypotension	CA, HF, A	Mixed	PN
3	F	42	45	Val30Ala	Paresthesia	CA, A	Mixed	T AF PN
4	F	62	64	His88Arg	Dyspnea	CA, HF, A	cardiac	G H PN
5	M	27	30	Val30Ala	Paresthesia	CA, A	Mixed	AF PN
6	F	34	39	Gly53Glu	Impaired consciousness, paresthesia	CA, A	Mixed	AF PN B
7	M	30	34	Gly47Arg	Orthostatic hypotension	CA, A	Mixed	G AF PN
8	M	61	65	Tyr69His	Impaired consciousness	CA	Mixed	B
9	M	37	39	Glu54Gln	Paresthesia, diarrhea	CA,	Mixed	PN
10	M	17	19	Glu47Arg	Impaired consciousness, paresthesia	CA, A	Mixed	AF PN
11	F	25	27	Glu47Arg	Orthostatic hypotension	CA, A	Mixed	PN
12	M	53	57	Val30Met	Paresthesia	CA	Mixed	PN
13	M	55	61	Glu47Arg	Paresthesia	CA, A	Mixed	G H AF PN
14	M	45	47	Glu54Gln	Paresthesia, diarrhea	CA	Mixed	PN
15	M	60	68	Glu61Lys	Paresthesia, diarrhea	CA,	Mixed	G H AF PN
16	M	30	32	Gly47Arg	Paresthesia	CA,	Mixed	G
17	F	35	38	Gly47Arg	Paresthesia	CA,	Mixed	G AF PN TH
18	M	49	52	Asp38Val	Orthostatic hypotension	CA, HF, A	Mixed	H AF PN
19	M	50	52	Phe33Leu	Paresthesia	CA, HF	Mixed	PN
20	F	48	50	Lys35Asn	Diarrhea	CA,	Mixed	PN
21	M	29	31	Tyr114Cys	Paresthesia, vomit	CA, A	Mixed	G
22	F	58	60	Val30Ala	Orthostatic hypotension	CA, A	Mixed	G AF PN
23	M	56	60	Ser77Tyr	Diarrhea	CA, A	Mixed	G AF

A abnormal ECG, CA cardiac amyloidosis, F female, HF heart failure, M male, G gingiva, T tongue, H heart, AF abdominal fat, C cataract, PN peripheral nerve, B brain, TH thyroid