Background: It has been suggested that collagen abnormalities of the mitral valve are present in patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP). Genetic factors determining collagen synthesis and degradation have not been well defined in these patients. This study was undertaken to determine whether selective polymorphisms of matrix metalloproteinase-2 (MMP2) or transforming growth factor-β (TGFβ), with known or putative effects on collagen turnover, are more frequent in FMV/MVP.
Methods: Single nucleotide polymorphisms (SNPs) in select genes related to collagen turnover, including MMP2 rs2285053, MMP2 rs243865, TGFβ1 rs1800469, and TGFβ2 rs900, were determined in 98 patients with FMV/MVP who had severe mitral regurgitation and compared to 99 controls.
Results: MMP2 rs243865 was the only SNP significantly associated with FMV/MVP as compared to the control (odds ratio 2.07, 95% CI 1.23-3.50, p = 0.006). MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032).
Conclusion: The frequency of certain MMP2 polymorphisms is higher in patients with the FMV/MVP syndrome and patients with FMV/MVP without the syndrome. The data suggest that a genetic predisposition that alters collagen turnover may play a role in the pathogenesis and development of FMV/MVP.
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Floppy mitral valve/mitral valve prolapse: A complex entity with multiple genotypes and phenotypes.
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Department of Medicine, Division of Cardiovascular Medicine, The Ohio State University, Columbus, OH, USA; Biomedical Research Foundation, Academy of Athens, Athens, Greece.
Floppy mitral valve/mitral valve prolapse (FMV/MVP) is a common valvular abnormality affecting 2% to 3% of the general population. It occurs in a heterogeneous group of patients with varying and age dependent expressions. FMV/MVP can be familial or sporadic, isolated (called non-syndromic) or as a part of a well-defined syndrome of heritable connective tissue disorders or other diseases.
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August 2018
Division of Cardiovascular Medicine, Department of Medicine, The Ohio State University, Columbus, OH, USA.
Background: It has been suggested that collagen abnormalities of the mitral valve are present in patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP). Genetic factors determining collagen synthesis and degradation have not been well defined in these patients. This study was undertaken to determine whether selective polymorphisms of matrix metalloproteinase-2 (MMP2) or transforming growth factor-β (TGFβ), with known or putative effects on collagen turnover, are more frequent in FMV/MVP.
View Article and Find Full Text PDFFloppy Mitral Valve (FMV) - Mitral Valve Prolapse (MVP) - Mitral Valvular Regurgitation and FMV/MVP Syndrome.
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June 2017
The Ohio State University, Division of Cardiovascular Medicine, Columbus, OH, USA; Aristotelian University of Thessaloniki, Thessaloniki, Greece Biomedical Research Foundation Academy of Athens, Greece. Electronic address:
Mitral valve prolapse (MVP) results from the systolic movement of a portion(s) or segment(s) of the mitral valve leaflet(s) into the left atrium during left ventricular (LV) systole. It should be emphasised that MVP alone, as defined by imaging techniques, may comprise a non-specific finding because it also depends on the LV volume, myocardial contractility and other LV hemodynamics. Thus, a floppy mitral valve (FMV) should be the basis for the diagnosis of MVP.
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The Ohio State University, Division of Cardiovascular Medicine, Columbus, OH, USA; Aristotelian University of Thessaloniki, Thessaloniki, Greece. Electronic address:
Background: Certain patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP) may have symptoms that cannot be explained on the severity of mitral valvular regurgitation (MVR) alone; hypersensitivity to adrenergic stimulation has been suggested in this group defined as the FMV/MVP syndrome.
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Floppy mitral valve (FMV)/mitral valve prolapse (MVP) and the FMV/MVP syndrome: pathophysiologic mechanisms and pathogenesis of symptoms.
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April 2014
Division of Cardiovascular Medicine, Section of Intervention Cardiology, at The Ohio State University, Columbus, Ohio, USA.
Mitral valve prolapse (MVP) results from the systolic movement of a portion or segments of the mitral valve leaflets into the left atrium during left ventricular systole. It is well appreciated today that floppy mitral valve (FMV) is the central issue in the MVP and mitral valve regurgitation (MVR) story. The term FMV refers to the expansion of the area of the mitral valve leaflets with elongated chordae tendineae, chordae rupture and mitral annular dilation.
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