OBJECTIVESTo 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.DESIGNEvaluation 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.SETTINGFrench multidisciplinary outpatient clinic for patients with PXE.PARTICIPANTSPatients prospectively referred for PXE and first-degree relatives. Main Outcome Measure Prevalence of PXE with a limited or atypical phenotype and manifesting heterozygosity.RESULTSNinety-four patients were diagnosed as having PXE. Fifty-eight relatives were also examined, and none displayed the characteristic signs of the disease. Despite the histoclinical items and ABCC6 genotyping, we were unable to establish a definite diagnosis in 5 additional referred cases, ie, to distinguish between PXE with a limited or atypical phenotype and heterozygosity with skin and/or ophthalmologic and/or cardiovascular manifestations suggestive of PXE.CONCLUSIONSWe assume that all categories established at the 1992 consensus conference correspond to PXE, but that the 5 patients reported herein also have PXE. Homozygous, compound heterozygous, or heterozygous individuals may fulfill only some of the clinical and/or histopathologic consensus criteria of PXE. They cannot be placed into any category. Expressivity is highly variable in carriers of 1 or 2 ABCC6 mutations, and the disease manifestations overlap between both genotypes. Physicians should thus be more cautious with respect to the prognosis when faced with heterozygous relatives of a patient diagnosed with undisputable PXE. Indeed, heterozygotes may uncommonly experience severe ophthalmologic complications. Whether they may also have cardiovascular complications related to or worsened by PXE remains to be determined.

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. Explanations for these abnormalities could be silent myocardial ischemia due to early coronary involvement and/or the direct consequences of ultrastructural defects of the elastic tissue of the heart.

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. Systemic arterial hypertension was already present in 29% of the patients and cardiac index was usually in the normal range, without any inotropic support. Results of late catheterization showed continuing improvement with return of right heart pressures to normal values in most but not all patients. Systemic arterial hypertension was noted in nearly all patients and is likely to be the result of hypervolemia secondary to cyclosporineinduced sodium retention. The increase in cardiac index, which was above normal values in 39% of the patients, was also consistent with hypervolemia in the setting of cardiac denervation. Thus, cardiac function at rest is satisfactory at shortand long-term assessment after cardiac transplantation, but the development and persistence of systemic arterial hypertension associated with cyclosporine use are a matter of concern in such patients.

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 (3.5 percent during the last 3 years). OM increases significantly with age (from O before the age of 30 to 12.3 percent after 70), the functional class (FC) of angina, the FC of dyspnea (NYHA), the creatinine blood level (23.5 percent if greater than 200 mumol/l), the left ventricular end-diastolic pressure and in case of reoperation (16.7 percent), as well as in women (11.6 percent). There is a trend toward higher OM in case of past history of ventricular tachycardia or arterial hypertension, atherosclerotic disease of the lower extremities, left ventricular dysfunction or severe stenosis of the left main coronary artery. OM is not increased in patients with multivessel disease, diabetes or with a past history of myocardial infarction, and is even decreased in obese patients. The variables selected by multivariate analysis were: creatinine blood level, then angina FC, sex, dyspnea FC, age, the absence os obesity, left ventricular dysfunction, the year of surgery and finally reoperation. These results, mainly based on simple clinical variables, should facilitate the therapeutic decisions in borderline indications of coronary bypass surgery.

Supraventricular tachyarrhythmias are common after coronary artery bypass graft surgery (CABG) and may have deleterious hemodynamic consequences. To determine if acebutolol, a cardioselective beta-blocking drug, prevents such tachyarrhythmias after CABG, 100 consecutive patients, aged 30 to 77 years (mean +/- standard deviation 53 +/- 9), were entered into a randomized, controlled study. Exclusion criteria were: contraindications to beta-blocking drugs, left ventricular aneurysm, major renal failure, history of cardiac arrhythmia and cardiac arrhythmia during the immediate postoperative period. From 36 hours after surgery until discharge (usually on the seventh day), 50 patients were given 200 mg of acebutolol (or 400 mg if weight was more than 80 kg) orally twice a day (dosage than modified to maintain a heart rate at rest between 60 and 90 beats/min). The 50 patients in the control group did not receive beta-blocking drugs after CABG. The 2 groups were comparable in angina functional class, ejection fraction, number of diseased vessels, antianginal therapy before CABG, number of bypassed vessels and duration of cardiopulmonary bypass All patients were clinically evaluated twice daily and had continuous electrocardiographic monitoring and daily electrocardiograms. A 24-hour continuous electrocardiogram was recorded in the last 20 patients.(ABSTRACT TRUNCATED AT 250 WORDS)

To determine the excellent operative procedure to treat mitral valve prolapse (MVP).Fifty seven patients with MVP were divided into three groups: Group I received traditional chordal reconstruction; Group II underwent chordal replacement using expanded polytetrafluorethylene(e-PTFE) sutures and artificial ring valvuloplasty reconstruction; Group III submitted mitral valve replacement.Mitral regurgitation volume was reduced significantly in Group II [(1.3 +/- 3.8) ml] and Group III [(1.2 +/- 3.4) ml] than that in Group I [(4.7 +/- 7.7) ml] (P < 0.05).The utilization of e-PTFE sutures as artificial chordae and artificial ring valvuloplasty for MVP is a more reliable and safe procedure than traditional mitral valve reconstruction, and can avoid the complications of long term anticoagulant therapy after mechanical valve replacement.