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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]