Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene. The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent. Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy for this new type of CDG syndrome classified as CDGS type Ib.

Commissural fusion, leaflet thickening and alteration of the subvalvular apparatus are dominant mechanisms causing clinically important mitral stenosis (MS) of rheumatic origin. Calcification and a consequent decrease in leaflet mobility are subsequent features in rheumatic MS and may be the primary mechanisms in MS of degenerative origin. In 1051 consecutive patients with pure or predominant MS requiring surgical intervention, aetiology was rheumatic in 76.9%, infective in 3.3%, degenerative (severe annular and leaflet calcification) in 2.7% and congenital (Lutembacher syndrome) in 1.2%; it was the result of systemic lupus erythematosus (n = 4), carcinoid heart disease (n = 2), endomyocardial fibrosis (n = 2) and rheumatoid arthritis (n = 2) in less than 1%, while in 14.5% of these patients aetiology remained unclassified. The natural history of rheumatic MS is characterized by an asymptomatic latent period, following the initial rheumatic fever (RF). In a prospective study of MS (n = 159) the mean interval between RF and the appearance of symptoms was 16.3 +/- 5.2 years. Twenty-five years after the initial RF 8% of the patients were still asymptomatic, 9% were class II (NYHA), 33% class III and 50% had been operated or were class IV. Progress from mild to severe disability took 9.2 +/- 4.3 years on average. When valve surgery was indicated but refused by the patients, survival with medical treatment was 0.44 +/- 0.06 after 5 years, 0.32 +/- 0.08 after 10 years and 0.19 +/- 0.09 after 15 years.(ABSTRACT TRUNCATED AT 250 WORDS)

Prosthetic valve endocarditis remains an extremely serious complication, with a low but increasing incidence. 'Late' endocarditis, occurring more than 60 days after surgery, is relatively infrequently associated with staphylococci, Gram-negative bacteria and fungi so characteristic of the endocarditis that occurs earlier. A probable source of infection can be found in 25%-80% of patients, the most frequent causes being dental procedures, urological infections and interventions, and indwelling catheters. The most common organisms are S. epidermidis, S. aureus, viridans streptococci and enterococci. The general principles of antibiotic treatment are similar to those for native valve endocarditis, but antibiotic treatment needs to be more prolonged and dosages should be used which result in maximal, nontoxic concentrations. Oral anticoagulants should be stopped and replaced by intravenous heparins. Surgical reintervention is called for if there are large highly mobile vegetations in the mitral position or within 72 h if there are cerebral thrombo-embolic episodes.

Multimodality imaging permits clear depiction of left ventricular inferoseptal clefts, which should be distinguished from different entities such as left ventricular noncompaction cardiomyopathy (LVNC), cardiac diverticula and cardiac aneurysms. Inferoseptal clefts have yet to be widely recognized as a distinct variant of regional left ventricular structure.

Though nocardiosis is still rare, it should early be included in the differential diagnosis of infections in immunocompromised patients to allow timely diagnosis and therapy.

The coincidence of aortic valve stenosis and cryptogenic gastrointestinal bleeding usually from angiodysplasia of the cecum and ascending colon has been called Heyde syndrome. The pathophysiologic link between both remains unclear and may be due to subtle changes in plasmatic coagulation. There are some statistic and numerous casuistic reports, and recently the existence of the syndrome has been questioned. We describe two cases of aortic valve stenosis and cryogenic gastrointestinal bleeding in which bleeding subsided after replacement with a bioprosthesis. We give an overview of the current literature.

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