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Table 1 Patient characteristics at time of diagnosis stratified by BMPR2 and other mutations

From: Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Parameter

All patients (n = 325)

No mutation (n = 251)

BMPR2 mutation (n = 50)

Other mutation (n = 24)

Overall p-value#

Mean ± SD or %

n*

Mean ± SD or %

n*

Mean ± SD or %

n*

p-value+

Mean ± SD or %

n*

p-value+

Age at diagnosis (years)

47

 ± 17

325

48

 ± 18

251

47

 ± 17

50

 

40

 ± 17

24

 

0.069

Females

227

70%

325

177

71%

251

38

76%

50

 

12

50%

24

 

0.066

6 min walking distance (m)

393

 ± 124

249

390

 ± 129

195

412

 ± 96

40

 

380

 ± 128

15

 

0.529

N-terminal pro-brain natriuretic peptide (ng/l)

1539

 ± 2331

225

1479

 ± 2428

178

2062

 ± 1955

34

 

996

 ± 1796

13

 

0.285

Pro-brain natriuretic peptide (pg/ml)

315

 ± 291

19

320

 ± 311

14

235

199

4

 

11

-

1

 

0.602

Diagnosis

  

325

  

251

  

50

 < 0.001

  

24

 < 0.001

 < 0.001

 IPAH

201

61.8%

 

173

68.9%

 

20

40.0%

  

8

33.3%

   

 HPAH

47

14.5%

 

9

3.6%

 

29

58.0%

  

9

37.5%

   

 CHD-APAH

28

8.6%

 

27

10.8%

 

0

–

  

1

4.2%

   

 CTD-APAH

23

7.1%

 

22

8.8%

 

0

–

  

1

4.2%

   

 PVOD

16

4.9%

 

12

4.8%

 

0

–

  

4

16.7%

   

 Persistent PH of the newborn

3

0.9%

 

3

1.2%

 

0

–

  

0

-

   

 Drugs and toxins induced PAH

3

0.9%

 

1

0.4%

 

1

2.0%

  

1

4.2%

   

 Portal hypertension

2

0.6%

 

2

0.8%

 

0

-

  

0

–

   

 HIV-APAH

2

0.6%

 

2

0.8%

 

0

-

  

0

-

   

WHO functional class

  

274

  

215

  

42

   

17

 

0.880

 WHO functional class I

3

1%

 

3

1%

 

0

0%

  

0

0%

   

 WHO functional class II

82

30%

 

67

31%

 

10

24%

  

5

29%

   

 WHO functional class III

169

62%

 

130

61%

 

29

69%

  

10

59%

   

 WHO functional class IV

20

7%

 

15

7%

 

3

7%

  

2

12%

   

Current treatment

  

281

  

222

  

42

 < 0.001

  

17

0.017

 < 0.001

 Mono-therapy

71

25%

 

67

30.2%

 

1

2.4%

  

3

17.7%

   

 Double combination therapy

114

41%

 

94

42.3%

 

15

35.7%

  

5

29.4%

   

 Triple combination therapy

80**

28%

 

45

20.3%

 

26

61.9%

  

9

52.9%

   

 Calcium channel blockers alone

16

6%

 

16

7.2%

 

0

-

  

0

-

   

Haemodynamics

               

 Mean pulmonary artery pressure (mmHg)

49

 ± 15

274

47

 ± 15

216

55

 ± 11

42

0.011

54

 ± 15

16

0.253

0.006

 Pulmonary artery wedge pressure (mmHg)

8.7

 ± 3.8

257

10.1

 ± 3.8

200

7.8

 ± 2.9

41

0.002

7.6

 ± 3.4

16

0.112

 < 0.001

 Pulmonary vascular resistance (Wood Units)

10.8

 ± 6.0

249

9.9

 ± 5.7

195

15.5

 ± 5.8

38

 < 0.001

10.9

 ± 4.7

16

1.0

 < 0.001

 Cardiac output (l/min)

4.3

 ± 1.7

248

4.5

 ± 1.7

194

3.4

 ± 1.1

38

 < 0.001

4.2

 ± 1.7

16

1.0

 < 0.001

 Cardiac index (l/min/m2)

2.4

 ± 0.8

226

2.5

 ± 0.8

175

1.9

 ± 0.5

37

 < 0.001

2.4

 ± 0.7

14

1.0

 < 0.001

  1. +Post-hoc t-test comparison with “no mutation” group in case of significant ANOVA
  2. #ANOVA including all groups
  3. *n varies for each parameter, exact numbers are listed in this column
  4. **One patient received imatinib on compassionate use basis in addition to sildenafil, macitentan and treprostinil
  5. APAH associated pulmonary arterial hypertension, CHD congenital heart disease, CTD connective tissue disease, HHT hereditary haemorrhagic telangiectasia, HIV human immunodeficiency virus, HPAH heritable pulmonary arterial hypertension, IPAH idiopathic pulmonary arterial hypertension
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Respiratory Research

ISSN: 1465-993X

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