JACC. Case reports · 2025
ABCC6-Related Left Ventricular Papillary Muscle Calcification.
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Nollet Lukas, Pauwels Ruben, De Zaeytijd Julie, Strubbe Beatrijs, Dendooven Amélie, Vanakker Olivier M
Аннотация
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.
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.