Genomic analysis in patients with myxomatous mitral valve prolapse: current state of knowledge

Table 3 Molecular pathways leading to MMVD discussed in the studies

	Hagler et al. [19]	Thalji et al. [20]	Geirsson et al. [21]
Underlying disease	Surgery due to myxomatous mitral valve disease, histological confirmation of myxomatous changes	Surgery due to myxomatous mitral valve disease	Surgery due to myxomatous mitral valve disease
No° of mitral valves	48	22	49
Individuals with myxomatous valves	24 (50%)	11 (50%)	26 (53%)
Echocardiographical findings	Severe mitral regurgitation: - 100% with MMVD vs. 58% with non-myxomatous valves	n/a	Severe mitral regurgitation in 26 diseased patients, not more than mild MVR in 23 non-diseased patients
Control group	Visually normal mitral valves from cardiac transplant recipients	Visually normal mitral valves from transplant patients	organ/tissue donors and explanted hearts of transplant recipients without abnormalities of mitral valve
Affected signalling protein	TGF-ß2-; BMP-; WNT/ß-catenin activation	TGF-ß, increased phosphorylation of SMAD2/3, increased oxidative stress	TGF-ß

Myxomatous valves were obtained through surgical excision of patients with myxomatous changes confirmed by histological examination. Cardiac transplant recipients with visually normal mitral valves formed the control groups. Five different signalling proteins as well as increased oxidative were found to play a role in development of MMVD
No° number, MMVD myxomatous mitral valve disease, n/a not available, MVR mitral valve regurgitation, TGF-ß transforming growth factor beta, BMP bone morphogenetic protein

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