Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy

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

ISSN: 1750-1172