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Table 2 Phenotypic characteristics of the index patients.

From: Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

 

Without mutation

(n = 97)

Mutation MyBPC3

(n = 20)

Mutation MYH7

(n = 13)

P

(MyBPC3 vs MYH7)

P

(with vswithout mutation)

Age at diagnosis (years)

53 (16)

46 (16)

44 (19)

0.97

0.051

Age start follow up (years)

56 (16)

49(15)

50 (18)

0.86

0.049

Males

68%

55%

38%

0.46

0.054

Family history of HCM

23%

30%

62%

0.25

0.10

Family history of sudden death

16%

15%

31%

0.21

0.42

High blood pressure

43%

40%

23%

1

0.42

NYHA initial III-IV

10.5%

10%

8%

0.60

0.74

NYHA III-IV ever

38%

50%

46%

1

0,21

Angina

60%

70%

41%

0.45

0.68

Syncope

19%

15%

27%

0.64

1

Non-sustained ventricular tachycardia

25.3%

42.1%

40%

1

0.10

Abnormal blood pressure response

10.8%

31.6%

67%

0.9

0.030

Maximum left ventricular wall thickness(mm)

22 (6)

25 (7)

27 (8)

0.16

0.001

Wall thickness ≥ 30 mm

13%

15%

39%

0.95

0.09

Shortening fraction (%)

39 (10)

39 (11)

43 (10)

0.29

0.67

Left atrial diameter (mm)

45 (7)

50 (11)

50 (14)

0.79

0.038

Gradient ≥ 30 mmHg

29%

35%

31%

1

0.89

  1. Phenotypic characteristics of the index patients with mutations in MYH7, MyBPC3 and without mutations in those genes.
  2. HCM: hypertrophic cardiomyopathy; NYHA: New York Heart Asociation functional class