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Published on: August 28, 2018
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.
Insights
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.
Background:
Extensive papillary muscle calcification may be observed in ischemic heart disease or after thoracic radiotherapy. Rarely, it can be part of an underlying Mendelian disorder.
Case Summary:
A 70-year-old woman presented with bilateral angioid streaks on funduscopy, identified after a transient ischemic attack. Echocardiography when she was 49 years old had revealed extensive papillary muscle calcification, partially involving the left ventricular apex. A diagnosis of pseudoxanthoma elasticum (PXE) was suspected based on genetic analysis (multiexon deletion in ABCC6), skin biopsy, and plasma pyrophosphate measurement.
Discussion:
This is to our knowledge the first case of papillary muscle calcification due to ABCC6-related PXE.
Take-Home Message:
Extensive or peculiar cardiovascular calcification observed in a patient-including extensive papillary muscle calcification-should prompt further diagnostic evaluation of other organ systems, followed by a low threshold for genetic testing if an underlying hereditary calcification disorder such as PXE is suspected.
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