Dilated cardiomyopathy and left ventricular non-compaction in a patient with Alport syndrome
Abstract
Alport syndrome is a hereditary multisystem disorder with kidneys, hearing and eyes involvements. About 80% of cases are X-linked, due to mutations in the COL4A5 gene (MIM: #301050), with more severe manifestations in men. Cardiovascular manifestation in Alport syndrome includes mainly mitral valve dysplasia and prolapse, and aortic dilation and spontaneous dissection of the coronary arteries; cases of structural and functional cardiac remodeling (cardiomyopathy) are extremely rare. In this paper, we present a clinical case of a young patient with a combination of Alport syndrome, left ventricular non-compaction, and progressive dilated cardiomyopathy that had required consecutive heart and kidney transplantation. To clarify the risk of the disease transmission and the prospects for prenatal DNA-diagnostics, an extended genetic testing was performed. However even the identification of known mutation is not always make the prognosis for the offspring completely clear.
Keywords:Alportsyndrome,COL4A5, dilatedcardiomyopathy,left ventricularnon-compaction, geneticcounseling
For citation: Surikova Yu.A., Balkarova O.V., Polyak M.E., Povolotskaya I.S., Каymоnоv V.S., Blagova O.V., Mershina E.A., Zaklyazminskaya E.V. Clin Experiment Surg. Petrovsky J. 2019; 7 (1): 17–22. doi: 10.24411/2308-1198-2019-11002. (in Russian)
Received 21.10.2018. Accepted 06.02.2019.
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