Table 2.
Baseline characteristics
| Baseline characteristics | AOS patients (N = 28) |
|---|---|
| Sex (female) | 17 (61%) |
| Age (years) | 44.0 ± 17.3 |
| Confirmed SMAD3 mutation carriersa | 23 (82%) |
| BMI (kg/m2) | 24.9 ± 3.4 |
| Smoking (currently) | 2 (7%) |
| Systolic blood pressure (mmHg) | 128.2 ± 16.9 |
| Diastolic blood pressure (mmHg) | 80.4 ± 9.5 |
| Medication use | 14 (50%) |
| Beta‐blocker | 8 (29%) |
| Diuretics | 0 (0%) |
| ACE inhibitors | 4 (14%) |
| Angiotensin receptor blocker | 2 (7%) |
| Calcium channel blocker | 0 (0%) |
| Cholesterol lowering drugs (statins or other) | 3 (11%) |
| Platelet inhibitor | 6 (21%) |
| Oral anticoagulant | 2 (7%) |
| Comorbidity | 4 (14%) |
| Diabetes mellitus | 0 (0%) |
| Coronary artery disease | 1 (4%) |
| Aortic aneurysm or dissection | 19 (68%) |
| History of aortic surgery | 9 (32%) |
| Thoracic aortic aneurysms (>40 mm)b | 5 (18%) |
| Head and neck arterial anomaly | 6 (21%) |
| Coronary arterial anomaly | 0 (0%) |
| Abdominal arterial anomaly | 5 (18%) |
| Leg or arm arterial anomaly | 0 (0%) |
| Pulmonary artery dilatation (>40 mm) | 2 (7%) |
| Aortic diameterb | |
| Sinus of Valsalva | 36.0 ± 3.5 (range 30–44) |
| Ascending aorta | 30.6 ± 3.6 (range 25–40) |
| Aortic arch | 26.5 ± 3.7 (range 21–34) |
| Descending aorta | 24.9 ± 3.4 (range 19–33) |
| Cardiac anomalies | 9 (32%) |
| Bicuspid valve | 0 (0%) |
| Aortic stenosis (Vmax >250 m/s) | 0 (0%) |
| Aortic regurgitation (at least moderate) | 0 (0%) |
| Valve disease other than aortic (at least moderate) | 1 (4%)c |
| Congenital heart disease (i.e., VSD) | 1 (4%) |
| Ventricular hypertrophy (>13 mm) | 2 (7%) |
| Left ventricular dilatation (>60 mm) | 2 (7%) |
| Atrial fibrillation (former/paroxysmal or currently) | 4 (14%) |
| Age first vascular or cardiac abnormalities (in years) | 38.0 (26.5–56.0) |
| Orthopaedic abnormalitiesd | 24 (86%) |
| Age first orthopaedic abnormalities (in years) | 20.0 (13.8–46.0) |
Note: Data is shown as median (25–75%), mean ± SD or as N (%). Missing values for BMI (n = 2).
a
Five patients have a 50% chance of having AOS, since they are not yet genetically tested. They are included because they showed significant aortic, cardiac or orthopaedic symptoms associated with AOS.
b
Aortic diameters of the sinus of Valsalva and ascending aorta and prevalence of thoracic aortic aneurysm (>40 mm) are presented for patients who have not undergone aortic surgery.
c
This patients showed moderate mitral valve regurgitation.
d
Orthopaedic abnormalities such as arthritis, arthrosis, osteochondritis dissecans, orthopaedic surgeries, osteosarcomas, instability of the joints, joint or muscle pain.