Neurofibromatosis-associated pulmonary hypertension: an ominous duo.

The authors report a rare clinical case of a patient with neurofibromatosis type 1 (NF1) complicated by pulmonary hypertension (PH), which presents with rapid progression. An exhaustive investigation was performed to identify the main aetiology of the PH. It was concluded that the PH could be associated with NF1, and so belonged in group 5 of the clinical classification of PH. In general, such patients have a poor long-term prognosis due to the inexistence of proven, effective treatment. Further studies are needed to better understand the mechanisms of NF1-associated PH.

Marfan syndrome revisited: From genetics to the clinic. / Síndrome de Marfan revisitada ­ da genética à clínica.

Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin-1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin-1 mutations interfere with local TGF-ß signaling, in addition to impairing tissue integrity. The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagnosis of Marfan syndrome is made according to the revised Ghent nosology. Early identification and appropriate management are critical for patients with Marfan syndrome, who are prone to the life-threatening cardiovascular complications of aortic aneurysms and aortic dissection. The standard treatment includes prophylactic beta-blockers in order to slow down dilation of the ascending aorta, and prophylactic aortic surgery. The success of current medical and surgical treatment of aortic disease in Marfan syndrome has substantially improved mean life expectancy, extending it above 72 years. This review aims to provide an overview of this hereditary disorder.