Ventricular septal defect in a child with Alport syndrome: a case report

Abstract

BACKGROUND Alport 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 PRESENTATION We 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. CONCLUSIONS This 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.

DOI: 10.1186/1471-2261-10-48

Extracted Key Phrases

4 Figures and Tables

Statistics

010020020132014201520162017
Citations per Year

78 Citations

Semantic Scholar estimates that this publication has 78 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@inproceedings{Bassareo2010VentricularSD, title={Ventricular septal defect in a child with Alport syndrome: a case report}, author={Pier Paolo Bassareo and Andrea Raffaele Marras and Giuseppe Mercuro}, booktitle={BMC cardiovascular disorders}, year={2010} }