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Table 2 Genetic analysis, changes of NYHA class and prognosis before and after the catechin administration

From: Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction

NO.

Diagnosis

Gene (site)

Amino acid (clinical significance)

Carrier

NYHA class

Follow-up (months)

Prognosis

Pre-catechin

Post-catechin

1

HCM

MYH7 (761C > A)

Ala254Glu (VUS)

Noneb

III

II

7

Died (SD)

2

HCM

MYH7 (2464A > G)

Met822Val (Pathogenic)

None

III

II

27

Alive

3

HCM

MYH6 (3640C > T)

RAF1 (775 T > A)

Arg1214Trp (VUS) Ser259Thr (Pathogenic)

Mother

None

III

II

24

Alive

4

HCM

TPM1 (900-4G > A)

RAF1 (770C > T)

Splicing (VUS)Ser257Leu (Pathogenic)

Mother

None

IV

IV

4

Died (HF)

5

HCM

NEXN (835C > T)

Arg279Cys (VUS)

Father

III

II

12

Alive

6

RCM

TNNI3 (574C > T)

Arg192Cys (Pathogenic)

None

IV

II

24

Alive

7

RCM

PKP2 (2246C > A)

TNNI3 (575G > A)

Ala749Asp (Pathogenic)

Arg192His (Pathogenic)

None None

III

II

16

Alive

8

RCM

DSP (4943A > G)

DSP (6223C > T)

ILK (707A > G)

Gln1648Arg (VUS)

Arg2075Trp (VUS)

Asn236Ser (VUS)

Father

Mother

Mother

IV

IV

4

Died (HF)

9

RCM

MYH7 (3854-5C > T)

Splicing (VUS)

None

III

II

21

Alive

10

RCM

Undetecteda

Undetected

/

IV

III

27

Alive

11

RCM

Undetected

Undetected

/

III

II

14

Alive

12

RCM

Undetected

Undetected

/

III

II

13

Alive

  1. Notes: DSP desmoplakin, HCM hypertrophic cardiomyopathy, HF heart failure, ILK integrin linked kinase, MYH6 alpha-myosin heavy chain, MYH7 beta-myosin heavy chain, NYHA New York Heart Association, NEXN nexilin F-actin binding protein, PKP2 plakophilin, RAF1 Raf-1 proto-oncogene, serine/threonine kinase, RCM restrictive cardiomyopathy, SD sudden death, TNNI3 isoform of troponin I, TPM1 tropomyosin alpha-1 chain, VUS variants of uncertain significance. a There are no variants detected in patients. b There are no carriers found in patients’ family