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April 10, 2017Orphanet Journal of Rare DiseasesOpen Access

Cardiac pathology in spinal muscular atrophy: a systematic review

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Population

264 patients with spinal muscular atrophy and reported cardiac pathology from 72 studies, along with 14…

Design

Systematic_review

Authors

CWCamiel A. WijngaardeUniversity Medical Center UtrechtABA. Christian BlankUniversity Medical Center UtrechtMSMarloes StamUtrecht University

Discussion

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Implication

Cardiac screening in SMA warrants caution without controlled data; leaves open whether SMN deficiency elevates structural or arrhythmic risk.

Structured PICO

P
Population
264 patients with spinal muscular atrophy (SMA) and reported cardiac pathology from 72 studies, along with 14 publications on SMA mouse models.
O
Outcome
Structural cardiac defects and arrhythmias

Spinal muscular atrophy is associated with specific cardiac abnormalities, including structural defects in severe forms and arrhythmias in milder forms, highlighting the need for standardized cardiac evaluation in these patients.

Limitations

  • All included studies lacked control groups
  • Lack of a standardized approach for cardiac evaluation

Cite This Study

Wijngaarde et al. (2017) studied this question.

synapsesocial.com/papers/6a967fc0696bb040c5fba99bhttps://doi.org/10.1186/s13023-017-0613-5
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Also Consider

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  3. 3Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy2015 · 64 citations
  4. 4A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy2014 · 60 citations