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Table 1 Characteristics at first clinical evaluation at our centre of patients with LMNA mutations with and without neuromuscular onset

From: Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

 

Overall

With neurological Onset

Without neurological onset

P value

Number of patients

40

14 (35)

26 (65)

 

Number of families

31

12 (39)

19 (61)

 

Males

22 (55)

7 (50)

15 (58)

0.744

Age at symptom onset, yrs

33 (21–42)

11 (8–30)

39 (32–46)

< 0.0001

Age at first contact at our center, yrs

39 (29–74)

31 (20–44)

43 (36–49)

 

Follow-up duration, months

30 (6–70)

24 (12–101)

32 (8–63)

 

Diagnostic pathway

 Signs or symptoms

 

12 (86)

19 (73)

0.452

 Screening

 

2 (14)

7 (27)

 

Cardiomyopathy

24 (60)

5 (36)

19 (73)

0.040

 Dilated CMP

13 (32)

2 (14)

11 (42)

0.089

 Hypokinetic non dilated CMP

8 (20)

2 (14)

6 (23)

0.688

 Restrictive CMP

2 (5)

0

2 (8)

0.533

 Right ventricle CMP

1 (2)

1 (7)

0

0.350

History of atrial fibrillation

17 (42)

6 (43)

11 (42)

1.000

Sinus node dysfunction

4 (10)

3 (21)

1 (4)

0.114

Atrio-ventricular block

23 (57)

6 (43)

17 (65)

0.197

 1st degree

8 (20)

2 (14)

6 (23)

 

 2nd degree

7 (17)

2 (14)

5 (19)

 

 3rd degree/high degree

8 (20)

2 (14)

6 (23)

 

Positive familial history for

 Sudden death

7 (17)

3 (21)

4 (15)

0.678

 PM implantation (high degree AVB)

11 (27)

3 (21)

8 (30)

0.715

 CMP

16 (40)

5 (36)

11 (42)

0.746

NYHA class III- IV

7 (17)

4 (28)

3 (12)

0.214

PM recipients

8 (20)

2 (14)

6 (23)

0.688

ICD recipients

8 (20)

1 (7)

7 (27)

0.221

  1. Values are expressed as N, N (%) or median (interquartile range)
  2. LMNA, EMD gene codifying for lamin A/C and emerin, respectively, ICD implantable cardioverter defibrillator, PM pacemaker, AVB atrio-ventricular block, NYHA New York Heart Association