Novel Genetic Systemic Obstructive Microvascular Dysplasia

Andrea Frustaci; Romina Verardo; Rosario Cianci; Bruna Cerbelli; Maria Cecilia D'Asdia; Alessandro De Luca

doi:10.20944/preprints202310.1363.v1

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preprints.org > medicine and pharmacology > cardiac and cardiovascular systems > doi: 10.20944/preprints202310.1363.v1

Preprint Communication Version 1 Preserved in Portico This version is not peer-reviewed

Novel Genetic Systemic Obstructive Microvascular Dysplasia

^* ,

Maria Cecilia D'Asdia

Alessandro De Luca

Version 1 : Received: 20 October 2023 / Approved: 20 October 2023 / Online: 20 October 2023 (14:13:54 CEST)

A peer-reviewed article of this Preprint also exists.

Frustaci, A.; Cianci, R.; Verardo, R.; Cerbelli, B.; D’Asdia, M.C.; De Luca, A. Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation. J. Clin. Med. 2023, 12, 7150. Frustaci, A.; Cianci, R.; Verardo, R.; Cerbelli, B.; D’Asdia, M.C.; De Luca, A. Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation. J. Clin. Med. 2023, 12, 7150.

Abstract

Here in it is described a new genetic microvascular obstructive disease causing progressive hypo-perfusion of human brain, heart and kidney. Since the age of 30 years a male patient developed recurrent angina with normal coronary epicardial vessels but remarkable slow flow at angiography causing cardiac micro-aneurysms that at endomyocardial biopsy were associated to obstructive microvascular dysplasia. His history was followed in the seven decade by micro-hematuria characterized at kidney biopsy by renal microvascular dysplasia and frequent cerebral ischemic attacks with preserved structure of main brain arteries. Analysis of 5,600 genetic disease-causing genes revealed mutation of ABCC6, MMP2 and XYLT1 genes.

Keywords

New strategies for recovery of damaged functions

Subject

Medicine and Pharmacology, Cardiac and Cardiovascular Systems

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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