Diagnosis, management and mortality in acute aortic syndrome: results of the Spanish Registry of Acute Aortic Syndrome (RESA-II).

Background: Recent advances in the diagnosis and treatment of acute aortic syndrome should improve the outcome of this disease. The Spanish Registry of Acute Aortic Syndrome aimed to assess current results in acute aortic syndrome management in a wide cohort of hospitals in the same geographical area.

Methods: From January 2012 to January 2014, 26 tertiary hospitals included 629 consecutive patients with acute aortic syndrome: 73% men, mean age 64.

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.

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.