Manifestations of pseudoxanthoma elasticum in childhood.

Background: Pseudoxanthoma elasticum (PXE) affects the skin, retina and cardiovascular system. Most cases are related to mutations in the ABCC6 gene. The diagnosis is most often made late in the second or third decade of life.

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

Objectives: To illustrate a phenotypic overlap consisting of usual, but limited, or atypical manifestations of pseudoxanthoma elasticum (PXE) between heterozygous carriers of a single ABCC6 mutation and patients diagnosed with PXE, carriers of homozygous or compound heterozygous mutations.

Design: Evaluation for full and typical, incomplete, mild, or overlooked PXE during a 5-year period (2001-2005) based on the following 1992 expert consensus conference items: (1) yellowish papular skin eruption, (2) dermal elastorrhexis and mineralization of elastic fibers in lesional skin, and (3) angioid streaks. Testing for ABCC6 mutations was performed in all cases after informed consent.

Left ventricular systolic and diastolic function by echocardiogram in pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is an inherited systemic disease of connective tissue with possible cardiac involvement. Nineteen patients with pseudoxanthoma elasticum without a history of cardiac disease were investigated by echocardiography using standard measurements and tissue Doppler imaging. Systolic function was normal, but diastolic parameters were abnormal in 7 patients.

Early and late hemodynamic evaluation after cardiac transplantation: a study of 28 cases.

Right heart catheterization was performed in 28 patients 1 week and 6 to 24 months after orthotopic cardiac transplantation. All patients were receiving cyclosporine and methylprednisolone orally. At early catheterization, right heart pressures as well as pulmonary capillary wedge pressure still remained above normal values in the majority of patients.

[Operative risk in coronary bypass. A multivariate analysis of prognostic factors].

In order to determine the predictors of operative risk in coronary bypass surgery, we have studied 2112 consecutive patients who underwent isolated coronary bypass surgery between January 1979 and September 1984. The overall operative mortality (OM) was 4.4 percent (3.