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Table 2 Provides a detailed overview about known genetic findings in MMVD

From: Genomic analysis in patients with myxomatous mitral valve prolapse: current state of knowledge

 

Disse et al. [13]

Freed et al. [15]

Nesta et al. [14]

Monteleone et al. [18];

Lardeux [17]; Kyndt [16]

Underlying disease

MMVD

MVP

MVP

Myxomatous valvular dystrophy + hemophilia type A

No° of included individuals (echocardiography + genetics)

64

28 (11 m, 17f)

43

92

Mean age (years)

49

34

55

32

Affected individuals (positive in genetic testing) (%)

25 (39%)

12 (43%)

9 (21%)

21 (23%)

MR present

23

10 (3 m,7f)

9 (5 m,4f)

38 (14 m, 24f)

 - Trace to mild

15 (11 m, 4f)

8 (3 m, 5f)

7 (4 m, 3f)

20 (0 m, 20f)

 - Moderate

3 (2 m, 1f)

0

1 (f)

16 (12 m, 4f)

 - Severe

5 (3 m, 2f)

2 (0 m, 2f)

1 (m)

2 (2 m,0f)

Individuals with MVP

25 (39%) (16 m,9f)

12 (43%)

9 (21%)

21 (23%)

Prolapse localisation

 - AML

10

0

0

16 (12 m, 4f)

 - PML

5

7 (3 m, 4f)

1(f)

9 (8 m, 1f)

 - Bileaflet

10

5 (1 m, 4f)

8 (5 m, 3f)

n/a

Mean LVEF in MVP patients

n/a

65.5%

63.7%

69 + 8% m / 72 + 6% f

Chromosome

16

11

13

X

Locus

16p12.1.-p11.2

11p15.4

13.q31.3-q32.1

Xq28

Name of Gene

MMVP 1

MMVP 2

MMVP 3

XMVD

Mode of inheritance

Autosomal dominant

Autosomal dominant (incomplete penetrance)

Autosomal dominant

X-linked

  1. It gives an overview of number of patients screened in each study, patients affected (i.e. positive genetic testing result), genetic mode of inheritance and gene locus. Grade of MR and localization of leaflet prolapse display phenotype and penetrance for each gene
  2. MR mitral regurgitation, m male, f female, MVP mitral valve prolapse, AML anterior mitral leaflet, PML posterior mitral leaflet, EF ejection fraction, No° number, n/a not available