Ventricular septal defect in a child with Alport syndrome: a case reportReport as inadecuate

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BMC Cardiovascular Disorders

, 10:48

First Online: 05 October 2010Received: 08 July 2010Accepted: 05 October 2010DOI: 10.1186-1471-2261-10-48

Cite this article as: Bassareo, P.P., Marras, A.R. & Mercuro, G. BMC Cardiovasc Disord 2010 10: 48. doi:10.1186-1471-2261-10-48


BackgroundAlport syndrome AS is a rare inherited disorder characterized by an inflammation of the kidneys and damage to the glomerular capillaries, ultimately leading to renal failure at an early age. To date, rare reports of cardiac involvement in AS have been described, due in the majority of cases to the higher risk of heart conduction abnormalities in these patients, at times requiring implantation of a transcutaneous pacemaker. An increased risk of hypertension is likewise commonly featured.

Case presentationWe report the case of a 17-year-old female affected by a very severe early form of AS. A previously unreported association of the syndrome with congenital heart disease CHD, in this case membranous ventricular septal defect, is also reported. A possible pathophysiological mechanism underlying the concomitant manifestation of these two disorders is suggested. Complications implicated in surgical treatment of CHD are described. Clinical and therapeutic management of AS with cardiovascular involvement are discussed, and a short literature review performed.

ConclusionsThis first report of a cardiovascular association highlights the possible involvement of collagen mutations in the two pathologies. Even when drug-resistance appears to be responsible for the failure to control secondary hypertension in AS, clonidine may represent a safe, effective option in the normalization of high blood pressure.

AbbreviationsASAlport syndrome

CHDcongenital heart disease

VSDventricular septal defect

ABPM24-hours ambulatory blood pressure monitoring

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2261-10-48 contains supplementary material, which is available to authorized users.

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Author: Pier Paolo Bassareo - Andrea Raffaele Marras - Giuseppe Mercuro


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