Prevalence of cardiac concerns along with common types of CHD in KS within Radboudumc and GenIDA registries
| Kleefstra syndrome . | Cohort . | . |
|---|---|---|
| . | Radboudumc . | GenIDA . |
| Total included patients | 50 | 163 |
| Age at last examination in years: median (IQR) | 13.5 (13) | 10 (12) |
| Gender (male/female) | M: 38%, F: 62% | M: 48%, F: 52% |
| Abnormality of the cardiovascular system | 20 (40%) | 65 (40%) |
| Arrhythmia | 4 (8%) | 12 (7.4%) |
| Cardiomyopathy | None reported | 2 (1.2%) |
| Abnormal ventricular septum morphology | 6 (12%) | 16 (9.8%) |
| Atrial septal defect | 7 (14%) | 21 (12.8%) |
| Tetralogy of Fallot | 2 (4%) | 0% |
| Patent foramen ovale | 2 (4%) | 3 (1.8%) |
| Patent ductus arteriosus | N/A | 9 (5.5%) |
| Pulmonary valve stenosis | 2 (4%) | 14 (8.6%) |
| Bicuspid aortic valve/aortic valve stenosis | None reported | 7 (4.3%) |
| Mitral or tricuspid valve prolapse/insufficiency | 2 (4%) | 5 (3.1%) |
| Abnormality of the greater vasculature | None reported | 14 (8.6%) |
| Kleefstra syndrome . | Cohort . | . |
|---|---|---|
| . | Radboudumc . | GenIDA . |
| Total included patients | 50 | 163 |
| Age at last examination in years: median (IQR) | 13.5 (13) | 10 (12) |
| Gender (male/female) | M: 38%, F: 62% | M: 48%, F: 52% |
| Abnormality of the cardiovascular system | 20 (40%) | 65 (40%) |
| Arrhythmia | 4 (8%) | 12 (7.4%) |
| Cardiomyopathy | None reported | 2 (1.2%) |
| Abnormal ventricular septum morphology | 6 (12%) | 16 (9.8%) |
| Atrial septal defect | 7 (14%) | 21 (12.8%) |
| Tetralogy of Fallot | 2 (4%) | 0% |
| Patent foramen ovale | 2 (4%) | 3 (1.8%) |
| Patent ductus arteriosus | N/A | 9 (5.5%) |
| Pulmonary valve stenosis | 2 (4%) | 14 (8.6%) |
| Bicuspid aortic valve/aortic valve stenosis | None reported | 7 (4.3%) |
| Mitral or tricuspid valve prolapse/insufficiency | 2 (4%) | 5 (3.1%) |
| Abnormality of the greater vasculature | None reported | 14 (8.6%) |
IQR, interquartile range.
Prevalence of cardiac concerns along with common types of CHD in KS within Radboudumc and GenIDA registries
| Kleefstra syndrome . | Cohort . | . |
|---|---|---|
| . | Radboudumc . | GenIDA . |
| Total included patients | 50 | 163 |
| Age at last examination in years: median (IQR) | 13.5 (13) | 10 (12) |
| Gender (male/female) | M: 38%, F: 62% | M: 48%, F: 52% |
| Abnormality of the cardiovascular system | 20 (40%) | 65 (40%) |
| Arrhythmia | 4 (8%) | 12 (7.4%) |
| Cardiomyopathy | None reported | 2 (1.2%) |
| Abnormal ventricular septum morphology | 6 (12%) | 16 (9.8%) |
| Atrial septal defect | 7 (14%) | 21 (12.8%) |
| Tetralogy of Fallot | 2 (4%) | 0% |
| Patent foramen ovale | 2 (4%) | 3 (1.8%) |
| Patent ductus arteriosus | N/A | 9 (5.5%) |
| Pulmonary valve stenosis | 2 (4%) | 14 (8.6%) |
| Bicuspid aortic valve/aortic valve stenosis | None reported | 7 (4.3%) |
| Mitral or tricuspid valve prolapse/insufficiency | 2 (4%) | 5 (3.1%) |
| Abnormality of the greater vasculature | None reported | 14 (8.6%) |
| Kleefstra syndrome . | Cohort . | . |
|---|---|---|
| . | Radboudumc . | GenIDA . |
| Total included patients | 50 | 163 |
| Age at last examination in years: median (IQR) | 13.5 (13) | 10 (12) |
| Gender (male/female) | M: 38%, F: 62% | M: 48%, F: 52% |
| Abnormality of the cardiovascular system | 20 (40%) | 65 (40%) |
| Arrhythmia | 4 (8%) | 12 (7.4%) |
| Cardiomyopathy | None reported | 2 (1.2%) |
| Abnormal ventricular septum morphology | 6 (12%) | 16 (9.8%) |
| Atrial septal defect | 7 (14%) | 21 (12.8%) |
| Tetralogy of Fallot | 2 (4%) | 0% |
| Patent foramen ovale | 2 (4%) | 3 (1.8%) |
| Patent ductus arteriosus | N/A | 9 (5.5%) |
| Pulmonary valve stenosis | 2 (4%) | 14 (8.6%) |
| Bicuspid aortic valve/aortic valve stenosis | None reported | 7 (4.3%) |
| Mitral or tricuspid valve prolapse/insufficiency | 2 (4%) | 5 (3.1%) |
| Abnormality of the greater vasculature | None reported | 14 (8.6%) |
IQR, interquartile range.
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