Table 1 Baseline characteristics of the total sample and stratified by genotype (Genotype-positive [+] vs. Genotype-negative [-])

From: Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis

 

All subjects

N = 125

Genotype +

(P/LP)

N = 49

Genotype -

N = 76

P-value

Demographics and clinical characteristics

Age at investigation, years

58 (46, 67)

51 (42, 59)

61 (53, 71)

< 0.001

Age at diagnosis, years

55 (41, 66)

43 (37, 56)

60 (49, 71)

< 0.001

Women, n (%)

48 (38)

18 (37)

30 (40)

0.759

Systolic BP, mmHg

136 (119, 151)

132 (115, 150)

140 (121, 152)

0.356

Diastolic BP, mmHg

80 (71, 90)

77 (68, 87)

82 (75, 92)

0.120

Heart rate (from ECG), min− 1

68 (59, 76)

67 (59, 78)

68 (59, 75)

0.726

BMI, kg/m²

26 (23, 30)

25 (24, 29)

27 (23, 31)

0.357

BSA, m²

1.93 (1.78, 2.08)

1.94 (1.79, 2.07)

1.90 (1.75, 2.09)

0.794

NYHA functional class, n (%)

   

0.777

I

55 (45)

22 (47)

33 (43)

 

II

41 (33)

17 (36)

24 (32)

 

II-III

17 (14)

10 (11)

12 (16)

 

III

10 (8)

3 (6)

7 (9)

 

Angina pectoris, n (%)

35 (29)

12 (26)

23 (30)

0.572

Syncope, n (%)

13 (11)

5 (11)

8 (11)

0.984

Palpitations, n (%)

36 (31)

16 (36)

20 (28)

0.357

NT-proBNP, pg/ml

543 (193, 1396)

733 (296, 1546)

466 (146, 1316)

0.139

Troponin T, pg/ml

13 (9, 20)

12 (8, 22)

29 (9, 19)

0.826

eGFR, ml/min/1,73m2

79 (64, 94)

80 (69, 98)

78 (60, 90)

0.215

ICD, n (%) *

15 (12)

11 (23)

4 (5)

0.003

primary

8 (6)

5 (10)

3 (4)

0.163

secondary

7 (6)

6 (12)

1 (1)

0.009

Prior Myectomy, n (%)

2 (2)

1 (2)

1 (1)

0.741

Prior PTSMA, n (%)

5 (4)

4 (8)

1 (1)

0.053

Comorbidities, n (%)

Arterial hypertension

83 (67)

21 (44)

62 (82)

< 0.001

Dyslipidemia

58 (47)

13 (28)

45 (59)

< 0.001

Diabetes mellitus

9 (7)

2 (4)

7 (9)

0.292

Atrial fibrillation

27 (22)

13 (27)

14 (18)

0.255

Coronary artery disease

18 (15)

2 (4)

16 (21)

0.009

Family history, n (%)

Positive family history of HCM

31 (25)

19 (40)

12 (16)

0.004

Positive family history of SCD

26 (21)

10 (20)

16 (21)

0.931

<50 years

12 (10)

4 (8)

8 (11)

0.662

<40 years

3 (2)

2 (4)

1 (1)

0.324

Echocardiography

Septal phenotype, n (%)

   

< 0.001

Sigmoid

44 (36)

3 (6)

41 (54)

< 0.001

Reverse curve

41 (33)

33 (69)

8 (10)

< 0.001

Neutral

36 (29)

12 (25)

24 (32)

0.432

Apical

3 (2)

0 (0)

3 (4)

0.163

LVEF, %

61 (54, 65)

60 (53, 65)

61 (55, 65)

0.345

LV GLS, %

-19.1 (-21.0, -16.0)

-18.1 (-20.7, -15.1)

-19.8 (-21.5, -16.8)

0.034

MWTH, mm

19.9 (18.2, 22.4)

20.9 (18.3, 22.5)

19.5 (18.0, 22.4)

0.377

PWTH, mm

11.2 (9.7, 12.6)

10.8 (8.9, 11.8)

11.7 (10.2, 13.9)

0.001

MWTH: PWTH ratio

1.8 (1.6, 2.0)

1.9 (1.7, 2.3)

1.7 (1.5, 1.9)

< 0.001

Resting LVOT Gradient, mmHg

10 (5, 35)

9 (4, 19)

15 (5, 63)

0.064

Resting LVOT Gradient

≥ 30 mmHg, n (%)

35 (32)

7 (16)

28 (41)

0.006

Genetic testing

P/LP variant, n (%)

49 (39)

   

MYBPC3, n (%)

34 (70)

   

MYH7, n (%)

10 (20)

   

MYL3, n (%)

2 (4)

   

MYH6, n (%)

1 (2)

   

TPM1, n (%)

1 (2)

   

TNNI3, n (%)

1 (2)

   
  1. Continuous variables given as median [25th-75th percentile] and counts as absolute frequencies (column%). * None of the ICD implantations were related with septal reduction therapy. Abbreviations: AF = atrial fibrillation; BP = blood pressure; BMI = body mass index; BSA = body surface area; ECG = electrocardiogram; eGFR = estimated glomerular filtration rate; HCM = hypertrophic cardiomyopathy; ICD = implantable cardioverter defibrillator; LP = likely pathogenic; LV GLS = left ventricular global longitudinal strain; LVEF = left ventricular ejection fraction; LVOT, =left ventricular outflow tract; MWTH = maximal wall thickness; NT-proBNP = N-terminal prohormone of brain natriuretic peptide; NYHA = New York Heart Association; P = pathogenic; PTSMA = percutaneous transluminal septal myocardial ablation; PWTH = posterior wall thickness; SCD = sudden cardiac death.
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