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Table 2 Criteria used for critical selection of papers retrieved from our search

From: Cardiac pathology in spinal muscular atrophy: a systematic review

Applied criteria for the selection of relevant papers

Inclusion criteria

Diagnosis of SMA types 1–4a or SMA mouse model; presence of cardiac abnormalities; original study with identifiable case(s).

Exclusion criteria

No diagnosis of SMA or substantial doubts about diagnosis; diagnosis of non 5q-SMA (e.g.: SMARD, distal SMA); no cardiac pathology present; SMA with additional chromosomal abnormalities associated with (congenital) heart disease (e.g. trisomy 21); cardiac abnormalities due to medication or in moribund patients (e.g. bradycardia); redundant publication of previously reported case(s); congress reports; mouse model of non 5q-SMA (e.g. IGHMBP2 model); animal research other than mouse models; only abstract available with unidentifiable cases.

  1. aThis also includes the SMA subtypes, e.g. ‘type 0’, ‘type 1a’, ‘type 1b’, ‘type 3a’ and ‘type 3b’. SMA spinal muscular atrophy; SMARD spinal muscular atrophy with respiratory distress; IGHMBP2 Immunoglobulin Mu Binding Protein 2