Ahmed MI, Andrikopoulou E, Zheng J et al (2022) Interstitial collagen loss, myocardial remodeling, and function in primary mitral regurgitation. JACC Basic Transl Sci 7(10):973–981

PubMed  PubMed Central  Google Scholar 

Ariyachet C, Nokkeaw A, Boonkaew B et al (2024) ZNF469 is a profibrotic regulator of extracellular matrix in hepatic stellate cells. J Cell Biochem 125(7):e30578

CAS  PubMed  Google Scholar 

Chin CH, Chen SH, Wu HH et al (2014) cytoHubba: identifying hub objects and sub-networks from complex interactome. BMC Syst Biol 8(Suppl 4):S11

PubMed  PubMed Central  Google Scholar 

Chivulescu M, Aabel EW, Gjertsen E et al (2022) Electrical markers and arrhythmic risk associated with myocardial fibrosis in mitral valve prolapse. Europace 24(7):1156–1163

PubMed  PubMed Central  Google Scholar 

Delwarde C, Capoulade R, Mérot J et al (2023) Genetics and pathophysiology of mitral valve prolapse. Front Cardiovasc Med. https://doi.org/10.3389/fcvm.2023.1077788

Article  PubMed  PubMed Central  Google Scholar 

Dong C, Wei P, Jian X et al (2015) Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet 24(8):2125–2137

CAS  PubMed  Google Scholar 

Driesbaugh KH, Branchetti E, Grau JB et al (2018) Serotonin receptor 2B signaling with interstitial cell activation and leaflet remodeling in degenerative mitral regurgitation. J Mol Cell Cardiol 115:94–103

CAS  PubMed  Google Scholar 

Durst R, Sauls K, Peal DS et al (2015) Mutations in DCHS1 cause mitral valve prolapse. Nature 525(7567):109–113

CAS  PubMed  PubMed Central  Google Scholar 

Giudicessi JR, Maleszewski JJ, Tester DJ et al (2021) Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome. Heart Rhythm O2 2(5):431–438

PubMed  PubMed Central  Google Scholar 

Guicciardi NA, De Bonis M, Di Resta C et al (2022) Genetic background of mitral valve prolapse. Rev Cardiovasc Med 23(3):96

PubMed  Google Scholar 

Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26(5):589–595

PubMed  PubMed Central  Google Scholar 

Lim SJ, Koo HJ, Cho MS et al (2021) Late gadolinium enhancement of left ventricular papillary muscles in patients with mitral regurgitation. Korean J Radiol 22(10):1609–1618

PubMed  PubMed Central  Google Scholar 

Linke WA, Hamdani N (2014) Gigantic business: titin properties and function through thick and thin. Circ Res 114(6):1052–1068

CAS  PubMed  Google Scholar 

Mckenna A, Hanna M, Banks E et al (2010) The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297–1303

CAS  PubMed  PubMed Central  Google Scholar 

Moore P, Wolf A, Sathyamoorthy M (2024) An eye into the aorta: the role of extracellular matrix regulatory genes ZNF469 and PRDM5, from their previous association with brittle cornea syndrome to their novel association with aortic and arterial aneurysmal diseases. Int J Mol Sci 25(11):5848

CAS  PubMed  PubMed Central  Google Scholar 

Morningstar JE, Nieman A, Wang C et al (2021) Mitral valve prolapse and its motley crew-syndromic prevalence, pathophysiology, and progression of a common heart condition. J Am Heart Assoc. https://doi.org/10.1161/JAHA.121.020919

Article  PubMed  PubMed Central  Google Scholar 

Neubauer J, Haas C, Bartsch C et al (2016) Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. Int J Legal Med 130(4):1011–1021

PubMed  Google Scholar 

Oyama MA, Elliott C, Loughran KA et al (2020) Comparative pathology of human and canine myxomatous mitral valve degeneration: 5HT and TGF-β mechanisms. Cardiovasc Pathol 46:107196

CAS  PubMed  PubMed Central  Google Scholar 

Parwani P, Avierinos J, Levine RA et al (2017) Mitral valve prolapse: multimodality imaging and genetic insights. Prog Cardiovasc Dis 60(3):361–369

PubMed  PubMed Central  Google Scholar 

Roselli C, Yu M, Nauffal V et al (2022) Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse. Eur Heart J 43(17):1668–1680

PubMed  PubMed Central  Google Scholar 

Salih MA, Hamad MH, Savarese M et al (2021) Exome sequencing reveals novel TTN variants in Saudi patients with congenital titinopathies. Genet Test Mol Biomarkers 25(12):757–764

CAS  PubMed  Google Scholar 

Sauls K, de Vlaming A, Harris BS et al (2012) Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res 96(1):109–119

CAS  PubMed  PubMed Central  Google Scholar 

Tessler I, Reshef N, Shpitzen S et al (2022) Mitral valve prolapse: from new mechanisms to diagnostic challenges. Kardiol Pol 80(9):891–896

PubMed  Google Scholar 

van Wijngaarden AL, Hiemstra YL, Koopmann TT et al (2020) Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology. J Med Genet 57(12):843–850

PubMed  Google Scholar 

van Wijngaarden AL, Kruithof BPT, Vinella T et al (2021) Characterization of degenerative mitral valve disease: differences between fibroelastic deficiency and Barlow’s disease. J Cardiovasc Dev Dis 8(2):23

PubMed  PubMed Central  Google Scholar 

Vogel KG, Peters JA (2005) Histochemistry defines a proteoglycan-rich layer in bovine flexor tendon subjected to bending. J Musculoskelet Neuronal Interact 5(1):64–69

CAS  PubMed  Google Scholar 

Yu M, Kyryachenko S, Debette S et al (2021) Genome-wide association meta-analysis supports genes involved in valve and cardiac development to associate with mitral valve prolapse. Circ Genomic Precis Med. https://doi.org/10.1161/CIRCGEN.120.003148

Article  Google Scholar 

Zanotti S, Magri F, Salani S et al (2023) Extracellular matrix disorganization and sarcolemmal alterations in COL6-related myopathy patients with new variants of COL6 genes. Int J Mol Sci 24(6):5551

CAS  PubMed  PubMed Central  Google Scholar