Table 1.
Patient characteristics.
| Patient number | Sex | Age | Gene variant | Congenital heart disease | History of lymphatic abnormalities | ||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infancy | Childhood | Adulthood | |||||||||||||||||||||||
| PE | GE | CT | PL | CA | IL | LR | PE | GE | CT | PL | CA | IL | LR | PE | GE | CT | PL | CA | IL | LR | |||||
| 1 | M | 19 years | RIT1 | HCM | + | + | + | − | − | − | − | − | − | + | − | − | − | − | + | + | + | − | − | − | − |
| 2 | M | 6 months | PTPN11 | ASD, VSD, HAA | − | − | + | + | − | − | − | ||||||||||||||
| 3 | M | 21 years | RIT1 | PS, ASD, | + | + | + | + | − | − | − | + | + | + | + | − | − | − | + | + | + | + | − | − | − |
| 4 | F | 6 months | PTPN11 | PS, ASD, VSD, HCM | − | − | + | + | − | − | − | ||||||||||||||
| 5 | M | 2 months | PTPN11 | HCM | − | − | + | + | + | − | − | ||||||||||||||
| 6 | F | 2 months | RIT1 | PS | − | − | + | + | − | − | − | ||||||||||||||
| 7 | F | 3 months | RIT1 | HCM | − | − | + | + | − | − | − | ||||||||||||||
| 8 | F | 50 years | PTPN11 | HCM | − | − | + | + | − | − | − | − | − | + | + | − | − | − | + | + | + | + | − | − | + |
| 9 | M | 2 months | KRAS | HCM | − | − | − | + | − | − | − | ||||||||||||||
| 10 | F | 6 months | PTPN11 | PS | − | − | + | + | + | − | − | ||||||||||||||
| 11 | M | 28 years | RIT1 | None | + | + | + | − | − | − | − | + | + | + | − | − | − | − | + | + | + | − | − | + | − |
F, female; M, male; ASD, atrial septal defect; CA, chylous ascites; CT, chylothorax; GE, genital edema; HAA, hypoplastic aortic arch; HCM, hypertrophic cardiomyopathy; LR, lymphorrhea; PE, peripheral edema; PS, pulmonary stenosis; PL, pulmonary lymphangiectasia; IL, intestinal lymphangiectasia; VSD, ventricular septal defect.