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Related Experiment Videos

Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation.

Aleksandra Nijak1, Maaike Alaerts1, Cuno Kuiperi2

  • 1Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

European Journal of Medical Genetics
|October 13, 2017
PubMed
Summary

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Genetic analysis identified a TPM1 variant in a family with left ventricular non-compaction and Ebstein anomaly. This finding links TPM1 to this combined cardiac condition, suggesting broader genetic testing is needed.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Left ventricular non-compaction (LVN(C)) is a rare inherited cardiomyopathy from abnormal heart development.
  • It can co-occur with other congenital heart defects like Ebstein anomaly (EA), characterized by tricuspid valve displacement.
Keywords:
Ebstein anomalyExome sequencingLeft-ventricular non-compactionTPM1

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