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Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Georgina Wren1, Emily Baker2,3, Jack Underwood3,4
1School of Psychology, Cardiff University, Cardiff, UK.
Journal of Medical Genetics
|November 15, 2022
Summary
Genetic deletions at Xp22.31 increase the risk of abnormal heart rhythms (AHRs) in males with X-linked ichthyosis (XLI). Associated gastrointestinal and respiratory conditions were identified, suggesting targeted cardiac screening for deletion carriers.
Area of Science:
- Genetics
- Cardiology
- Dermatology
Background:
- Xp22.31 genetic deletions are linked to X-linked ichthyosis (XLI) and an increased risk of atrial fibrillation/flutter (AF) in males.
- AF poses significant risks for thrombosis, heart failure, stroke, and dementia.
Purpose of the Study:
- Investigate the manifestation of abnormal heart rhythms (AHRs) in Xp22.31 deletion carriers.
- Identify risk factors, comorbidities, and candidate genes associated with AHRs in these individuals.
- Assess deletion carriers' attitudes towards cardiac screening.
Main Methods:
- Analysis of UK Biobank data for deletion carriers with AF.
- Online survey on AHRs in males with XLI and female carriers.
- Genetic screening for common variants in Xp22.31 associated with idiopathic AF.
Main Results:
- AHRs affect up to 35% of deletion carriers, with onset patterns varying and potential triggers including stress.
- Gastrointestinal conditions and asthma/anemia were significant comorbidities in male and female carriers, respectively.
- Genetic analysis revealed AF risk variants near *STS* in males and GI/asthma risk variants near *PNPLA4* in both sexes.
Conclusions:
- AHRs are frequently associated with Xp22.31 deletions, identifying specific subgroups for prioritized screening.
- Further research into cardiac function in deletion carriers and steroid sulfatase-deficient models is needed to understand AF pathophysiology.
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