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Cardiac pathology in spinal muscular atrophy: a systematic review

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2017
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Title
Cardiac pathology in spinal muscular atrophy: a systematic review
Published in
Orphanet Journal of Rare Diseases, April 2017
DOI 10.1186/s13023-017-0613-5
Pubmed ID
Authors

C. A. Wijngaarde, A. C. Blank, M. Stam, R. I. Wadman, L. H. van den Berg, W. L. van der Pol

Abstract

Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models. We systematically reviewed reported cardiac pathology in relation to SMN deficiency. To investigate the relevance of the possible association in more detail, we used clinical classification systems to characterize structural cardiac defects and arrhythmias. Seventy-two studies with a total of 264 SMA patients with reported cardiac pathology were identified, along with 14 publications on SMA mouse models with abnormalities of the heart. Structural cardiac pathology, mainly septal defects and abnormalities of the cardiac outflow tract, was reported predominantly in the most severely affected patients (i.e. SMA type 1). Cardiac rhythm disorders were most frequently reported in patients with milder SMA types (e.g. SMA type 3). All included studies lacked control groups and a standardized approach for cardiac evaluation. The convergence to specific abnormalities of cardiac structure and function may indicate vulnerability of specific cell types or developmental processes relevant for cardiogenesis. Future studies would benefit from a controlled and standardized approach for cardiac evaluation in patients with SMA.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 1%
Unknown 75 99%

Demographic breakdown

Readers by professional status Count As %
Other 13 17%
Student > Ph. D. Student 11 14%
Student > Master 11 14%
Researcher 10 13%
Student > Bachelor 7 9%
Other 15 20%
Unknown 9 12%
Readers by discipline Count As %
Medicine and Dentistry 21 28%
Neuroscience 16 21%
Biochemistry, Genetics and Molecular Biology 10 13%
Agricultural and Biological Sciences 4 5%
Nursing and Health Professions 3 4%
Other 9 12%
Unknown 13 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 April 2017.
All research outputs
#5,206,984
of 9,716,694 outputs
Outputs from Orphanet Journal of Rare Diseases
#764
of 1,208 outputs
Outputs of similar age
#137,910
of 264,548 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#31
of 43 outputs
Altmetric has tracked 9,716,694 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,208 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.8. This one is in the 31st percentile – i.e., 31% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 264,548 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.