Table 2.
Prevalence of associated medical problems among the 33 patients with ACTA2 Arg179 alterations.
| Medical condition | # Individuals affected/Totala (%) |
|---|---|
| Ophthalmic problems | |
| Congenital mydriasis | 28/33 (85%) |
| Aniridia | 7/33 (21%) |
| Retinal vessel tortuosity | 7/20 (35%) |
| Retinal detachment | 1/33 (3%) |
| Cardiovascular problems | |
| Patent ductus arteriosus | 30/33 (91%) |
| Aorto-pulmonary window | 3/33 (9%) |
| Thoracic aortic dissection | 5/33 (15%) |
| Ascending aortic aneurysmb | 24/26 (92%) |
| Peripheral artery aneurysm | 18/33 (54%) |
| Pulmonary artery aneurysm | 17/33 (51%) |
| Tachycardia | 6/33 (18%) |
| Dysautonomia | 2/33 (6%) |
| Neurologic problems | |
| Stroke | 9/33 (27%) |
| Seizure | 6/33 (18%) |
| Lower extremity spasticity | 2/33 (6%) |
| Upper extremity spasticity | 1/33 (3%) |
| Hemiparesis | 5/33 (16%) |
| Intracranial artery stenosis | 23/30 (77%) |
| White matter signal changes on MRI | 21/22 (95%) |
| Developmental delay | 6/31 (19%) |
| Learning difficulties | 2/27 (7%) |
| Pulmonary problems | |
| Pulmonary artery hypertension | 16/33 (48%) |
| Emphysema | 2/33 (6%) |
| Chronic lung disease | 11/33 (33%) |
| Asthma | 9/33 (27%) |
| Pneumothorax | 1/33 (3%) |
| Gastrointestinal problems | |
| Gut malrotation | 10/33 (30%) |
| GERD | 9/30 (30%) |
| Chronic constipation | 11/30 (37%) |
| Gall stone or sludge | 10/33 (30%) |
| Urogenital problems | |
| Hypotonic bladder | 15/32 (47%) |
| Prune belly sequence | 2/12 (17%) |
| Hydronephrosis | 10/32 (31%) |
| Hydroureter | 2/32 (6%) |
| Vesicoureteral reflux | 5/32 (16%) |
| Recurrent UTI | 12/33 (36%) |
| Undescended testes | 5/10 (50%) |
| Hydrocele | 3/9 (33%) |
a
Denominator is based on available records;
b
Denominator includes only patients with no prior thoracic aortic dissections.
Abbreviations: GERD- gastroesophageal reflux; UTI- urinary tract infection.