Table 2.
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).
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.
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.
This patients showed moderate mitral valve regurgitation.
Orthopaedic abnormalities such as arthritis, arthrosis, osteochondritis dissecans, orthopaedic surgeries, osteosarcomas, instability of the joints, joint or muscle pain.