We read with interest the report by MONTANI et al. [1] of fatal rupture of pulmonary arteriovenous malformation (AVM) in a patient with hereditary haemorrhagic telangiectasis (HHT) and severe pulmonary arterial hypertension (PAH) confirmed by right heart catheterisation. The authors hypothesised that bleeding from pulmonary AVM may have been facilitated by increased mean pulmonary artery pressu...

Recent trials on secondary prophylaxis after venous thromboembolism (VTE) have provided a wealth of data on the risk factors for recurrence and, to some extent, also for bleeding. Some of the results are consistent across the studies, but there are also conflicting data. Certain risk factors, such as pulmonary embolism versus deep vein thrombosis or presence of cardiolipin antibodies, have a mo...

BACKGROUND AND OBJECTIVES Hepatitis C virus (HCV) infection is an important cause of morbidity and mortality in patients affected by hereditary bleeding disorders and treated with non-virus inactivated clotting factor concentrates during the 1970s. INFORMATION SOURCES In this review, we briefly report the present knowledge about HCV infection in hemophilic patients. The natural course of hepa...

The authors present the case of a 41-year-old patient with hereditary hemorrhagic telangiectasia (HHT), who in the past had an aortic valve replacement surgery, currently takes anticoagulant drugs and has sustained an extensive trauma to the nose as a result of a dog bite. The HHT is diagnosed basing on the presence of at least three out of four symptoms or signs: spontaneous epistaxis, vascula...

Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alte...

alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...

Brugada Syndrome (BS) is a hereditary disorder characterized by primary electrical abnormality, absence of structural heart disease, an elevated risk sudden death, polymorphous ventricular tachycardia, and fibrillation, which mainly affects young men