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Table 4 SMN2 copy numbers in patients with SMA type 1 and cardiac abnormalities

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
García-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
  1. The number of SMN2 copies of 13 patients with SMA type 1
  2. Abbreviations: IPCCC International Paediatric and Congenital Cardiac Code; VSD ventricular septal defect; ASD atrial septal defect; PDA patent ductus arteriosus; AVSD atrioventricular septal defect; HLHS hypoplastic left heart syndrome. χ = SMN2 copy numbers were calculated based on the SMN:MPZ ratio provided by the authors in the original publication [53]