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Heart cell DNA test could improve rare disease diagnosis

NCT ID NCT03177018

First seen Dec 16, 2025 · Last updated May 20, 2026 · Updated 20 times

Summary

This study looked at whether DNA taken from heart muscle cells during a routine heart mapping procedure can be used to diagnose arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare heart condition. Researchers tested 34 adults to see if they could collect good-quality DNA from these cells. The goal was to see if this method could help find genetic mutations linked to the disease.

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Contacts and locations

Locations

  • Cardiology-rytmology service

    Paris, France

  • University Hospital Toulouse - Cardiology Department

    Toulouse, 31000, France

Conditions

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