Outlet type of interventricular septal defect in SanFilippo type-B syndrome.

Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders, due to deficiency of glycosaminoglycans breakdown enzymes. MPS type III is also known as SanFilippo syndrome, which is further subdivided into four distinct forms--A, B, C and D--caused by different enzyme deficiencies, but with similar clinical characteristics. Cardiac involvement in SanFilippo syndrome is less common compared with the other MPS types.

Bosentan in Eisenmenger syndrome and chronic thromboembolic pulmonary hypertension.

Background: Bosentan, a dual endothelin receptor antagonist, has been used for symptomatic improvement of patients with idiopathic pulmonary arterial hypertension (PAH) and specific types of secondary (e.g. scleroderma and human immunodeficiency virus infection) PAH, but its efficacy in patients with congenital heart disease and chronic thromboembolic pulmonary hypertension is still under evaluation.

Left ventricular function in patients with obstructive sleep apnoea syndrome before and after treatment with nasal continuous positive airway pressure.

Background: Previous studies have yielded disparate results regarding the effect of obstructive sleep apnoea (OSA) syndrome on left ventricular (LV) function.

Objectives: In order to clarify this, we performed a prospective study investigating OSA patients with no history of systemic hypertension, coronary artery disease, myocardial, pericardial or valvular problems, asthma or chronic obstructive pulmonary disease before and after treatment with nasal continuous positive airway pressure (nCPAP).

Methods: Fifteen patients (3 women, 12 men) with an apnoea/hypopnoea index >15 (mean +/- SD = 52 +/- 21) were studied with complete polysomnography, ambulatory blood pressure monitoring, M-mode two-dimensional echocardiography and pulsed Doppler echocardiography in two phases, i.