Related Experiment Video
Updated: May 8, 2026
Mouse Abdominal Aortic Aneurysm Model Induced by Perivascular Application of Elastase
Published on: February 11, 2022
Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model
Fabrice Prunier1, Gwenola Terrien, Yannick Le Corre
1LUNAM Université, Angers, France. FaPrunier@chu-angers.fr
Insights
Pseudoxanthoma elasticum (PXE) patients show few cardiac issues, but PXE mice develop hypertrophy later in life. This suggests older PXE individuals may face late-onset heart problems.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Pseudoxanthoma elasticum (PXE) is a rare genetic disorder affecting connective tissue due to ABCC6 gene mutations.
- PXE is characterized by mineralization and fragmentation of elastic fibers, with cardiac complications primarily documented in case reports.
Purpose of the Study:
- To prospectively assess cardiac involvement in a cohort of PXE patients.
- To investigate cardiac function and structure in a PXE mouse model (Abcc6(-/-)) compared to wild-type controls.
Main Methods:
- 67 PXE patients underwent comprehensive cardiac evaluations including ECG, echocardiography, CMR, treadmill tests, and SPECT.
- PXE mouse models (Abcc6(-/-)) and wild-type controls were analyzed for cardiac function and histology at various ages.
Main Results:
- PXE patients showed no frequent cardiac complications; treadmill tests were negative, and SPECT revealed mild perfusion abnormalities in two patients.
- While LV dimensions and function were normal, 10.4% of PXE patients had LV hypertrophy of unknown etiology. Valvulopathies were frequent but insignificant.
- Abcc6(-/-) mice developed cardiac hypertrophy by 24 months without contractile dysfunction, unlike younger mice or WT controls.
Conclusions:
- PXE is not frequently associated with cardiac complications in humans, contrary to some case reports.
- Cardiac hypertrophy observed in aged Abcc6(-/-) mice indicates a potential for late-onset cardiopathy in elderly PXE patients.
Background:
Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue. Cardiac complications reportedly associated with PXE are mainly based on case reports.
Methods:
A cohort of 67 PXE patients was prospectively assessed. Patients underwent physical examination, electrocardiogram, transthoracic echocardiography, cardiac magnetic resonance imaging (CMR), treadmill testing, and perfusion myocardial scintigraphy (SPECT). Additionally, the hearts of a PXE mouse models (Abcc6(-/-)) and wild-type controls (WT) were analyzed.
Results:
Three patients had a history of proven coronary artery disease. In total, 40 patients underwent exercise treadmill tests, and 28 SPECT. The treadmill tests were all negative. SPECT showed mild perfusion abnormalities in two patients. Mean left ventricular (LV) dimension and function values were within the normal range. LV hypertrophy was found in 7 (10.4%) patients, though the hypertrophy etiology was unknown for 3 of those patients. Echocardiography revealed frequent but insignificant mitral and tricuspid valvulopathies. Mitral valve prolapse was present in 3 patients (4.5%). Two patients exhibited significant aortic stenosis (3.0%). While none of the functional and histological parameters diverged significantly between the Abcc6(-/-) and WT mice groups at age of 6 and 12 months, the 24-month-old Abcc6(-/-) mice developed cardiac hypertrophy without contractile dysfunction.
Conclusions:
Despite sporadic cases, PXE does not appear to be associated with frequent cardiac complications. However, the development of cardiac hypertrophy in the 24-month-old Abcc6(-/-) mice suggests that old PXE patients might be prone to developing late cardiopathy.
