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.
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:
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