From: Cardiac pathology in spinal muscular atrophy: a systematic review
Reference | Patient no. | SMN2 copy number | Cardiac pathology | IPCCC diagnostic group(s) |
---|---|---|---|---|
Devriendt (1996) [46] | 1 | 1 copy | Small VSD | Group 6 |
Macleod (1999) [53] | 2 | 1 copy χ | ASD | Group 4 |
3 | 1 copy χ | ASD and mitral hypoplasia | Groups 4 and 5 | |
GarcÃa-Cabezas (2004) [56] | 4 | 1 copy | ASD (secundum type) | Group 4 |
Rüdnik-Schöneborn (2008) [63] | 5 | 1 copy | Large ASD (sinus venosus type), multiple VSDs and PDA | Groups 4, 6 and 8 |
6 | 1 copy | Common atrium (i.e. a very large ASD) and PDA | Groups 4 and 8 | |
7 | 1 copy | Large ASD (secundum type) and VSD | Groups 4 and 6 | |
8 | 2 copies | Small VSD and PDA | Groups 6 and 8 | |
Lumaka (2009) [65] | 9 | 2 copies | ASD (secundum type) | Group 4 |
Rüdnik-Schöneborn (2010) [66] | 10 | 1 copy | Large ASD, mild pulmonary and mild aortic stenosis | Groups 4 and 7 |
11 | 1 copy | AVSD | Group 5 | |
Parra (2012) [67] | 12 | 1 copy | HLHS | Group 6 |
Ekici (2012) [68] | 13 | 2 copies | Dextrocardia and Tetralogy of Fallot | Groups 1 and 2 |