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Genetics and pathophysiology of mitral valve prolapse.
Front Cardiovasc Med
February 2023
Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.
Mitral valve prolapse (MVP) is a common condition affecting 2-3% of the general population, and the most complex form of valve pathology, with a complication rate up to 10-15% per year in advanced stages. Complications include mitral regurgitation which can lead to heart failure and atrial fibrillation, but also life-threatening ventricular arrhythmia and cardiovascular death. Sudden death has been recently brought to the forefront of MVP disease, increasing the complexity of management and suggesting that MVP condition is not properly understood.
View Article and Find Full Text PDFX-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
Kardiol Pol
March 2023
Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warszawa, Poland.
Genetic background of mitral valve prolapse.
Rev Cardiovasc Med
March 2022
Arrhythmia Unit and Electrophysiology Laboratories, IRCCS San Raffaele Scientific Institute, 20132 Milano, Italy.
Mitral valve prolapse (MVP) has a prevalence of 2-3% among the population. It involves a heterogeneous group of patients with different expressions and according to the phenotype can be further divided into fibroelastic deficiency, which is mainly considered as a degeneration due to aging, and myxomatous disease, frequently associated with familiar clusters. Thus, MVP can be present in syndromic, when part of a well-defined syndrome, and non-syndromic forms.
View Article and Find Full Text PDFGenetics of syndromic and non-syndromic mitral valve prolapse.
Heart
June 2018
l'institut du thorax, INSERM, CNRS, Université de Nantes, Nantes, France.
Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP.
View Article and Find Full Text PDFIn-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.
Rev Esp Cardiol (Engl Ed)
July 2018
Instituto de Genética Médica y Molecular (INGEMM), Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain; Unidad de Genética Clínica, Hospital Universitario HM Montepríncipe, Madrid, Spain.
Introduction And Objectives: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype.
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