© Science and Education Publishing DOI:10.12691/ajmsm-3-2-3 Russian Family with X-linked Alport Syndrome and Cardiovascular Abnormalities

Abstract Background: Alport syndrome (AS) is an inherited disease. Clinical findings usually include hematuria, proteinuria and arterial hypertension. Hearing loss and ocular abnormalities are common symptoms. In the last years there are some clinical observations of arterial disease (aortic aneurysm, aortic dissection) in males with AS. Methods: coding exons and splice sites of the abovementioned genes were sequenced in on Ion Torrent platform. Detailed clinical examination was obtained. Ophthalmologic and otologic evaluations, pure tone audiometry, electrocardiography, ECHO-cardiography, 24-hour blood pressure monitoring and retroperitoneal ultrasonography were performed. Results: a novel dominant missense mutation c.G3098A, p.1033 G>D in the collagen type IV alpha-5 gene (COL4A5) was revealed in five family members. New aspects of phenotype evaluated: cardiovascular abnormalities (asymptomatic aortic enlargement, left ventricular dilatation, aortic insufficiency); early childhood onset of systemic hypertension; absents of ocular abnormalities. Microhematuria, proteinuria (in progress up to 2,0 g/l) and early childhood onset of systemic hypertension are discussed as a result of heterozygous COL4A5 mutations in affected females. Conclusions: molecular genetics help to understand variable clinical phenotypes of AS patients. New findings about cardiovascular abnormalities should stimulate doctors to make cardiology examination in al