Table 6 Diagnostic categories in heart transplanted pediatric cohort and distribution between rare and monogenic diseases
From: The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy
Diagnosis | ORPHA code | Tx (n. 276) | Rare diseases (n. 273) | Monogenic diseases (n. 223) |
|---|---|---|---|---|
n. (% respect to total Tx) | n. (% respect to rare diseases) | |||
Complication following organ transplant | 306,644 | 1 | 1 (0.4) | Â |
Dilated cardiomyopathy | 217,604 | 118 | 118 (42.8) | 113 (41.4) |
Dilated cardiomyopathy on ischemic basis | Â | 3 | Â | Â |
Ebstein malformation | 1880 | 1 | 1 (0.4) | 1 (0.4) |
Familial isolated arrhythmogenic dysplasia of the right ventricle | 217,656 | 1 | 1 (0.4) | 1 (0.4) |
Genetic heart disease | 271,853 | 85 | 85 (30.8) | 84 (31.1) |
Hypertrophic cardiomyopathy | 217,569 | 23 | 23 (8.3) | Â |
Hypoplastic left heart | 2248 | 2 | 2 (0.7) | 2 (0.7) |
Myocarditis | § | 9 | 9 (3.3) |  |
Radiation-induced pathology | 521,132 | 5 | 5 (1.8) | Â |
Restrictive cardiomyopathy | 217,632 | 21 | 21 (7.6) | 21 (7.6) |
Shone Complex | 99,063 | 1 | 1 (0.4) | 1 (0.4) |
Severe aortic insufficiency | 99,094 | 1 | 1 (0.4) | Â |
Valvular heart disease | 228,410 | 5 | 5 (1.8) | Â |