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Table 2 Clinical features in patients with Alström syndrome

From: Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Patient No

Weight (kg)

Obesity

Vision Loss

Hearing loss

Homa-IR

Hyperlipidemia (mg/dL)

Treatment

Other

EF % 1

EF % 2

A

62

 + 

 + 

 + 

12.7

 + 

Enalapril

Furosemid

Acanthosis Nigrikans, nephrocalcinosis

40

41

Ex

19 y

B

64

 + 

 + 

 + 

  

Enalapril Furosemid Spironolakton

Scoliosis

26

48

 

C

17

 + 

 + 

 − 

  

Kaptopril

Furosemid

Digoxin

42

43

43

D

18

 + 

 + 

 − 

1.58

 − 

Captopril

 

59

55

 

E

6

 − 

 + 

 − 

  

Enalapril

Furosemid

Spironolakton

Digoksin

Aspirin

Metacartin

43

39

Ex in infancy

F

7

 + 

 + 

 − 

  

Digoxin

Captopril Furosemid Spironolakton

 

25

35

Ex infancy

G

79

 + 

 + 

 + 

  

Enapril

 

59

58

Ex 17 y

H

72

 + 

 + 

 + 

  

Enapril

 

45

55

 

J

11

 − 

 + 

 − 

  

Levosimendan

Kaptopril, Spironolakton

 

40

29