Aortic root dilatation |
None |
60–80%11,28,30,31,37
|
Aortic dissection |
Dissection rare in children <10 years old |
Pulmonary artery dilatation |
None |
76%35
|
Dissection rare |
Diagnostic feature in those <40 years old |
Mitral regurgitation/prolapse/annular calcification |
Palpitations |
52–68%29
|
Arrhythmias |
Regurgitation may be intermittent |
|
Chest pain dyspnoea |
|
Endocarditis |
|
|
|
|
Ventricular dysfunction |
|
Descending aorta dilatation |
None |
|
Aortic dissection |
Rare in childhood |
Endothelial dysfunction/abnormal aorta elasticity |
None |
80–100%32,36
|
Increased vascular stiffness |
May contribute to dissection risk |
Tricuspid valve prolapse |
None unless severe |
4%30
|
May progress requiring repair |
Severe disease uncommon except in infantile type |
|
|
36% in infantile type37
|
|
|
Left ventricular dysfunction |
Dyspnoea |
Up to 100% |
Diastolic. May be progressive to systolic dysfunction |
May occur despite normal valves |
|
Reduced exercise tolerance |
Severity varies26,27
|
|
|
Arrhythmias |
Palpitations |
Up to 20–30%23,24,25
|
May cause sudden death |
Associated with ventricular dilatation |
|
Collapse |
|
|
|
|
Chest pain |
|
|
|
Coronary artery aneurysm |
Myocardial infarction |
<1%34
|
Only described in adults |
|
Atrial septal defect |
None |
4%38
|
May need surgical repair |
More common than in normal population |