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ABCC6-Related Left Ventricular Papillary Muscle Calcification
Lukas Nollet1, Ruben Pauwels2, Julie De Zaeytijd3
1Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Extensive papillary muscle calcification can indicate Pseudoxanthoma Elasticum (PXE), a rare genetic disorder. This case highlights the importance of genetic testing for cardiovascular calcification when PXE is suspected.
Area of Science:
- Cardiovascular Medicine
- Medical Genetics
- Ophthalmology
Background:
- Extensive papillary muscle calcification is associated with ischemic heart disease and radiotherapy.
- Rarely, it can be a manifestation of Mendelian disorders.
- Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder affecting connective tissue.
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