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Table 1 Frequency of clinical neurological, cardiovascular and connective tissue disorder features in the three cohorts

From: Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

 

Cohort 1 (n = 10)

% (n)

Cohort 2 (n = 23)

% (n)

Literature patients (n = 59)

% (n)

Neurological findings

Age

38 [14–66]

16 [1–60]

15 [0–71]

Seizures

50% (5/10)

70% (16/23)

46% (26/56)

Mega cisterna magna

29% (2/7)

25% (5/20)

31% (14/45)

Cardiovascular findings

Aortic dilation/aneurysm

90% (9/10)

67% (10/15)

51% (27/53)

Pulmonary artery dilation/PAH

38% (3/8)

20% (2/10)

39% (18/46)

Aortic valve dysfunction

44% (4/9)

50% (10/20)

20% (10/50)

Mitral valve anomalies

67% (6/9)

11% (2/18)

41% (19/46)

Tricuspid valve anomalies (Prolapse, dysplasia)

11% (1/9)

6% (1/16)

25% (11/44)

Bicuspid aortic valve

0% (0/8)

29% (5/17)

3% (1/39)

PDA

0% (0/8)

27% (3/11)

41% (21/51)

VSD/ASD

22% (2/9)

100% (2/2)

27% (13/48)

Early-onset varicose veins

33% (3/9)

36% (4/11)

100% (1/1)

Arterial tortuosity

11% (1/9)

0% (0/5)

60% (3/5)

Arterial aneurysm/dissection

11% (1/10)

18% (2/11)

60% (3/5)

Connective tissue disorder features

Joints hyperlaxity (JHL)

70% (7/10)

53% (9/17)

73% (29/40)

Skin hyperelasticity (SHE)

44% (4/9)

33% (5/15)

42% (14/33)

Spontaneous or easily bruising

38% (3/8)

23% (3/13)

24% (4/17)

Cutaneous fragility (scar)

38% (3/8)

8% (1/12)

63% (10/16)

Wall hernia

11% (1/9)

20% (3/15)

53% (9/17)

Gastro-intestinal problems

13% (1/8)

17% (2/12)

63% (12/19)

Emphysema

44% (4/9)

7% (1/15)

58% (19/33)

PNO

0% (0/10)

0% (0/16)

20% (2/10)

Scoliosis

60% (6/10)

28% (5/18)

18% (3/17)

Pectus carinatum/excavatum

0% (0/10)

0% (0/16)

25% (4/16)