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Case Reports
. 2010 Oct 5:10:48.
doi: 10.1186/1471-2261-10-48.

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

Pier Paolo Bassareo  1 , Andrea Raffaele Marras, Giuseppe Mercuro
Affiliations
Case Reports

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

Pier Paolo Bassareo et al. BMC Cardiovasc Disord. .

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.

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Figures

Figure 1
Figure 1
Chest antero-posterior X-ray showing a normal heart size, and a more marked pulmonary vasculature, particularly at basal level. A central venous catheter is evident as well.
Figure 2
Figure 2
Transthoracic echocardiogram: parasternal log axis view showing septal paradoxical movement at M-mode modality.
Figure 3
Figure 3
Closure of the ventricular septal defect by a patch (white arrow).
Figure 4
Figure 4
24-hour ambulatory blood pressure monitoring profile showing a persistent elevation of both systolic and diastolic blood pressure. The physiological decline in nocturnal pressure was absent (non-dipper pattern)
See this image and copyright information in PMC

References

    1. Alport AC. Hereditary familial congenital haemorrhagic nephritis. BMJ. 1927;i:504–506. doi: 10.1136/bmj.1.3454.504. - DOI - PMC - PubMed
    1. Williamson DAJ. Alport's syndrome of hereditary nephritis with deafness. Lancet. 1961;ii:1321–1323. doi: 10.1016/S0140-6736(61)90899-6. - DOI - PubMed
    1. Heidet L, Gubler MC. The renal lesions of Alport syndrome. J Am Soc Nephrol. 2009;20:1210–1215. doi: 10.1681/ASN.2008090984. - DOI - PubMed
    1. Heikkilä P, Soininen R. In: Molecular Pathology and Genetics of Alport Syndrome. 1. Tryggvason K, editor. Basel: Karger; 1996. The type IV collagen family; pp. 105–129.
    1. Kashtan CE, Kim Y. Distribution of the alpha 1 and alpha 2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int. 1992;42:115–126. doi: 10.1038/ki.1992.269. - DOI - PubMed

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