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Diagnostics Genetics and epigenetics, Screening and monitoring

Small Patients, Big Hearts

Genetic screening can play a vital role in improving outcomes in pediatric cardiomyopathy – a disease burdened with high morbidity and mortality rates. And though guidelines for this testing exist, uptake between practices varies.

A study led by the University at Buffalo aimed to identify the genetic mechanisms underlying the disease and investigate current clinical genetic testing practices. Their findings? Genetic testing rates varied from 0–97 percent across sites, with positive family history and hypertrophic cardiomyopathy subtype increasing the likelihood of testing (1).

21 percent of children who did not undergo genetic testing were found to have a molecular cause; both familial and idiopathic cases were among the positive results. “Even in families without a family history of cardiomyopathy, we found that many children with cardiomyopathy have a genetic cause that we can establish,” said principal investigator Steven E. Lipshultz (2), highlighting the need for routine genetic testing.

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  1. SM Ware et al., J Am Heart Assoc, 10, e017731 (2021). PMID: 33906374.
  2. University at Buffalo (2021). Available at: https://bit.ly/3hQ8uJJ.

About the Author

Olivia Gaskill

During my undergraduate degree in psychology and Master’s in neuroimaging for clinical and cognitive neuroscience, I realized the tasks my classmates found tedious – writing essays, editing, proofreading – were the ones that gave me the greatest satisfaction. I quickly gathered that rambling on about science in the bar wasn’t exactly riveting for my non-scientist friends, so my thoughts turned to a career in science writing. At Texere, I get to craft science into stories, interact with international experts, and engage with readers who love science just as much as I do.

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