The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue - GLA p.

Utility of real-time three-dimensional transesophageal echocardiography in evaluating the success of percutaneous transcatheter closure of mitral paravalvular leaks.

Background: The percutaneous closure of mitral paravalvular leaks has been reported in patients who are poor operative candidates. Unsuccessful percutaneous closure of leaks may be related to morphologic characteristics of the defects.

Methods: Ten patients were selected from a database for mitral dehiscence closure, in whom two-dimensional transesophageal echocardiography revealed inadequate leak closure.

Etiology and short-term prognosis of severe mitral regurgitation.

Purpose: To describe the etiology and to document the course of severe mitral regurgitation (MR).

Methods: Prospective registry of 272 patients diagnosed with chronic severe MR in an echocardiographic study.

Results: Mean age was 70.

Successful transcatheter closure of a postmyocardial infarction ventricular septal rupture in a patient rejected for cardiac surgery: usefulness of transesophageal echocardiography.

Acute ventricular septal rupture is a high-risk complication of myocardial infarction. Although early surgical treatment improves the prognosis of this condition, hospital mortality after emergency surgery ranges from 10% to 60%. Transcatheter closure is an established method of treating selected congenital septal defects; less experience exists regarding its usefulness for postmyocardial infarction ventricular septal defect.

Isolated noncompaction of the ventricular myocardium: infrequent because of missed diagnosis?

Isolated noncompaction of the ventricular myocardium is frequently mistaken for other cardiomyopathies. We report a case of a 49-year-old woman admitted to hospital for heart failure and initially given the diagnosis of apical hypertrophic cardiomyopathy. In this case, myocardial contrast echocardiography and magnetic resonance imaging played a pivotal role in establishing the diagnosis of isolated noncompaction of the ventricular myocardium.

[Influence of gender on the etiology of mitral regurgitation].

Our aim was to investigate the prevalence of the different causes of severe mitral regurgitation and the influence of gender on that prevalence. We performed a prospective study of 272 consecutive patients with severe mitral regurgitation that had been detected echocardiographically. Their mean age was 70.

Heart failure in the elderly: age-related differences in clinical profile and mortality.

Background: Age influence in the prognosis in unselected patients with heart failure has not been widely studied.

Aims: To evaluate possible differences in clinical profile and outcome of patients hospitalized with HF according to age.

Methods And Results: During 1996, a total of 1065 hospital in-patients had confirmed heart failure, with follow-up data through 2002.

Pharmacological treatment in patients with heart failure: patients knowledge and occurrence of polypharmacy, alternative medicine and immunizations.

Aims: To evaluate in patients with heart failure (HF) due to systolic dysfunction the occurrence of polypharmacy, alternative medicine, immunization against influenza, and patients' knowledge about their medication.

Methods And Results: Sixty-five patients, 49 men, mean age 60.5+/-12.

Systolic dysfunction is a predictor of long term mortality in men but not in women with heart failure.

Aims: To evaluate possible gender differences in clinical profile and outcome of patients hospitalised with heart failure.

Methods And Results: During 1996 a total of 1065 hospital in-patients had confirmed heart failure, with follow-up data through 2002. Women (58%) were significantly older, had higher prevalence of hypertension and diabetes, and lower prevalence of ischaemic heart disease, chronic pulmonary disease and alcoholism.

[Risk stratification using combined ECG, clinical, and biochemical assessment in patients with chest pain without ST-segment elevation. How long should we wait? ].

Introduction: We use clinical, ECG, and biochemical data to stratify risk in patients with chest pain without ST segment elevation. However, the prognostic performance of these studies in relation to time from onset of symptoms is unknown.

Patients And Method: In a single-center, prospective study, 321 consecutive patients who had been admitted in the emergency room with a suspected acute coronary syndrome without ST segment elevation were included in the study.

Annual rates of admission and seasonal variations in hospitalizations for heart failure.

Aims: To investigate the annual hospitalization rate and seasonal variation in confirmed heart failure (HF) admissions.

Methods And Results: Records from all admissions to one hospital during 1 year with a HF diagnostic code were reviewed. From 1953 admissions, 595 were excluded because they did not fulfill the diagnostic criteria.

[Utility of the serum biochemical markers CPK, CPK MB mass, myoglobin, and cardiac troponin T in a chest pain unit. Which marker determinations should be requested and when?].

Background: The prognostic value of biochemical markers in relation to time since onset of chest pain was evaluated in an emergency room with a chest pain unit.

Methods: In a single-center, prospective study we included 321 consecutive patients admitted to the emergency room with suspected unstable angina IIIB and an evolution of less than 12 hours. Blood samples were collected for CPK, CPK MB mass, myoglobin, and cardiac troponin T assays 6, 12, and 18 h after the onset of pain.

[Hospitalized congestive heart failure patients with preserved versus abnormal left ventricular systolic function].

Objectives: To compare the clinical characteristics of hospitalized patients with congestive heart failure and left ventricular dysfunction versus normal systolic function.

Methods: Clinical records of all admissions with a heart failure diagnostic code over a one-year period were reviewed retrospectively. Of 1,953 admissions, 595 were excluded because they did not fulfill diagnostic criteria.