| Reference | No. patients (sex) | SMA type | Age at onset | Joint contractures | Disease course | Heart defect | Molecular genetic results |
| Bürglen et al8 | 6 (M = 2, F = 4) | Unknown | Birth | Not reported | Unknown | ASD, VSD, univentricle, tricuspid atresia, partial AV canal, coarctation | SMN1 deletion, SMN2 copies not assessed |
| Rudnik-Schöneborn et al9 | 2 (M) | I | 2 months, birth | Not present | Death at 5 and 5.5 months | VSD (both cases) | SMN1 deletion, SMN2 copies not assessed |
| Devriendt et al10 | 1 (M) | I | Prenatal | Knees, elbows | Death at 25 days | VSD | SMN1 deletion, one SMN2 copy |
| Mulleners et al11 | 2 (F) | I (case 1), III (case 2) | Birth (case 1), 2 years (case 2) | Hips, knees, ankles (case 1) | Death at 2 weeks (case 1), alive at 2 years (case 2) | Large ASD (case 1), L-transposition of large vessels, ASD II (case 2) | SMN1 deletion, SMN2 copies not assessed |
| Jong et al12 | 1 (M) | I | Birth | Knees, wrist, fingers | Ventilation from 3.5 months | ASDII, muscular VSD | SMN1 and NAIP deletion, SMN2 copies not assessed |
| MacLeod et al13 | 1 (patient 3, M) | I | Prenatal | Knees, elbows, fingers | Death at 17 days | ASD, mitral hypoplasia | SMN1 deletion, SMN2 copies not assessed |
| El-Matary et al14 | 1 (M) | I | Prenatal | Hips, knees, ankles, elbows | Death soon after birth | Common atrium, multiple VSDs, hypoplastic aortic arch, coarctation | SMN1 deletion, SMN2 copies not assessed |
| Garcia-Cabezas et al15 | 1 (M) | I | Prenatal | Hips, knees, ankles, wrists | Death at 16 days | ASDII | SMN1 deletion, one SMN2 copy |
| Cook et al16 | 1 (M) | I | 4–6 weeks | Not present | Ventilated from 3–4 months, death at 8 months | Hypoplastic left heart syndrome | SMN1 deletion, SMN2 copies not assessed |
| Vaidla et al17 | 1 (F) | I | Prenatal | Not present (bone fractures) | Ventilated from birth, death at 20 days | Large ASD | SMN1 deletion, SMN2 copies not assessed |
| Menke et al18 | 2 (F+?) sibs | I | Prenatal | Hips, knees, ankles | Death at 4 days | Hypoplastic left heart syndrome | SMN1 deletion, SMN2 copies not assessed |
ASD, atrial septal defect; AV canal, atrioventricular canal; F, female; M, male; VSD, ventricular septal defect;