Gene mutation | Total no. | Sex: F | PS | ASD | VSD | PDA | Sub-AS | dx <1 year | ‘Severe’ HCM | Regression | Death | Arrhythmia |
---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPN11 | 9 | 5 | 7 | 4 | 2 | 4 | 1 | 8 | 3 | 3 | 1 | |
RAF1 | 6 | 2 | 1 | 3 | 3 | 6 | 3 | 1 | 2 | |||
SOS1 | 4 | 2 | 2 | 1 | 1 | |||||||
KRAS | 1 | |||||||||||
BRAF | 1 | 1 | 1 | 1 | ||||||||
Unknown | 26 | 12 | 15 | 9 | 1 | 3 | 12 | 9 | 2 | 5 | 4 | |
Total[intervention*]: | 47 | 21 | 26[16] | 16[2] | 3 | 4[1] | 7[5] | 27 | 15 | 8 | 7 | 6 |
*Number of patients who required a catheter-based or surgical intervention for concomitant hemodynamically significant congenital heart disease.
dx<1 year, diagnosis made in the first year of life; PDA, patent ductus arteriosus; PS, pulmonary stenosis; ‘severe’ HCM, hypertrophic cardiomyopathy classified as ‘severe’ by imaging report; Sub-AS, subaortic stenosis.