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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)