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. 2024 Jun 11;12(6):1293. doi: 10.3390/biomedicines12061293

Table 1.

Descriptive analysis of baseline phenotypic and genetic features of 54 patients with LMNA mutations.

Characteristics Value
Age, median [IQR]:

  • Years at first clinical manifestation

 41 [19]

  • Years at first clinical evaluation

 45 [17] p value = 0.797
Age of disease onset (years), median [IQR]:

  • Cardiac disease

 38 [22]

  • Skeletal muscle disease

 43 [33] p value = 0.849
Sex male, n (%) 29 (54)
Probands, n (%) 20 (37)
Relatives, n (%) 34 (63)
Years of follow-up, median [IQR] 8 [8]
Alive at last follow-up, n (%) 51 (94)
Family history for, n (%):

  • Cardiomyopathy

 45 (83)

  • SCD

 29 (54)

  • Arrhythmias

 30 (55)
Type of genetic mutation, n (%):

  • Missense

 26 (48)

  • Non-frameshift insertion

 16 (30)

  • Frameshift deletion

 5 (9)

  • Nonsense

 7 (13)

  • Splicing site

 0 (0)
Skeletal muscle disease
At any time, n (%) 9 (17)
As first clinical manifestation, n (%) 3 (5)
Onset during the follow-up, n (%) 6 (11)
Specific phenotype, n (%):

  • LGMD1B

 2 (22)

  • EDMD2

 0 (0)

  • LCMD

 0 (0)
Non-specific phenotype, n (%) 7 (78)
Cardiac disease
At any time, n (%) 44 (81)
As first clinical manifestation, n (%) 41 (76)
Onset during the follow-up, n (%) 3 (5)
Arrhythmic phenotype:

  • AVB, n (%):

 26 (48)

  • 1st degree

 25 (46)

  • 2nd or 3rd degree

 13 (24)
SVA (AF/AFL or tachycardia), n (%) 22 (41)
PVCs, n (%) 41 (76)
NSVT, n (%) 36 (67)
SVT, n (%) 16 (29)
VF, n (%) 1 (2)
appropriate ICD interventions, n (%) 17 (31)
Structural phenotype:
LV dilation, n (%) 28 (52)
LV dysfunction, n (%):

  • Mild

 7 (13)

  • Moderate

 8 (15)

  • Severe

 12 (22)
RV involvement, n (%) 13 (24)
Combined arrhythmic and structural phenotype, n (%) 32 (59)
ICD carriers, n (%) 24 (44)
CRT-D carriers, n (%) 6 (11)

AF = atrial fibrillation; AFL = atrial flutter; AVB = atrioventricular block; CRT-D = cardiac resynchronization therapy with defibrillator; EDMD2 = type 2 Emery–Dreifuss muscular dystrophy; ICD = implantable cardioverter defibrillator; IQR = interquartile range; LCMD = LMNA-related congenital muscular dystrophy; LGMD1B = type 1B limb–girdle muscular dystrophy; LMNA = Lamin A/C gene; LV = left ventricular; NSVT = non-sustained ventricular tachycardia; PVCs = premature ventricular complexes; RV = right ventricular; SCD = sudden cardiac death; SVA = supraventricular arrhythmia; SVT = sustained ventricular tachycardia; and VF = ventricular fibrillation.