Research graph
References from Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications. Local targets link to admitted publications; unresolved targets remain external evidence.
Arrhythmic mitral valve prolapse and sudden cardiac death
10.1161/circulationaha.115.016291 · 2015 · External reference
Arrhythmic mitral valve prolapse and mitral annular disjunction: pathophysiology, risk stratification, and management
10.1093/eurheartj/ehad491 · 2023 · External reference
Association between genetic diagnosis and clinical outcomes in patients with heritable thoracic aortic disease
10.1161/jaha.122.028625 · 2023 · External reference
Atrial fibrosis in atrial fibrillation: mechanistic insights, diagnostic challenges, and emerging therapeutic targets
10.3390/ijms26010209 · 2025 · External reference
TGF-beta-driven atrial fibrosis in atrial fibrillation: from mechanistic insights to targeted therapies
10.14336/ad.2025.0564 · 2025 · External reference
Long-term outcomes in heritable thoracic aortic disease
10.3389/fcvm.2022.1009947 · 2022 · External reference
Lysyl oxidase like-2 in fibrosis and cardiovascular disease
10.1152/ajpcell.00176.2023 · 2023 · External reference
The function of SPARC as a mediator of fibrosis
10.2174/1874312901206010146 · 2012 · External reference
The role of HIF-1alpha in atrial fibrillation: recent advances and therapeutic potentials
10.31083/rcm26787 · 2025 · External reference
EHRA Expert consensus statement on arrhythmic mitral valve prolapse and mitral annular disjunction complex in collaboration with the ESC council on valvular heart disease and the European association of cardiovascular imaging endorsed by the heart rhythm society, the Asia Pacific heart rhythm society, and the Latin American heart rhythm society
10.1093/europace/euac125 · 2022 · External reference
Prevalence of diastolic and systolic mitral annular disjunction in patients with mitral valve prolapse
10.1016/j.echo.2024.10.004 · 2025 · External reference
Mitral annular disjunction arrhythmia syndrome in Marfan syndrome
10.1093/ehjcr/ytaa306 · 2020 · External reference
Primary cilia defects causing mitral valve prolapse
10.1126/scitranslmed.aax0290 · 2019 · External reference
Mutations in DCHS1 cause mitral valve prolapse
10.1038/nature14670 · 2015 · External reference
Mutations in NOTCH1 cause aortic valve disease
10.1038/nature03940 · 2005 · External reference
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy
10.1161/circulationaha.106.622621 · 2007 · External reference
Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies
10.1016/j.jacc.2016.09.927 · 2016 · External reference
Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy
10.1016/j.jacc.2019.06.072 · 2019 · External reference
LRP1 Protects against excessive superior mesenteric artery remodeling by modulating angiotensin II-mediated signaling
10.1172/jci.insight.164751 · 2023 · External reference
Bearing my heart: the role of extracellular matrix on cardiac development, homeostasis, and injury response
10.3389/fcell.2020.621644 · 2020 · External reference
Connexin43, a promising target to reduce cardiac arrhythmia burden in pulmonary arterial hypertension
10.3390/ijms25063275 · 2024 · External reference
Desmosomal arrhythmogenic cardiomyopathy: the story telling of a genetically determined heart muscle disease
10.3390/biomedicines11072018 · 2023 · External reference
Desmoplakin cardiomyopathy: comprehensive review of an increasingly recognized entity
10.3390/jcm12072660 · 2023 · External reference
The expanding genetic architecture of arteriopathies: from canonical TAAD genes to emerging connective tissue and signaling pathways
10.3390/medsci13030155 · 2025 · External reference
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: an international retrospective cohort study
10.1016/j.ejmg.2022.104503 · 2022 · External reference
A review of the molecular mechanisms underlying cardiac fibrosis and atrial fibrillation
10.3390/jcm10194430 · 2021 · External reference
Mitral annular disjunction in heritable thoracic aortic disease: insights from the Montalcino Aortic Consortium
10.1161/jaha.124.036274 · 2024 · External reference
Loeys-Dietz syndrome: a primer for diagnosis and management
10.1038/gim.2014.11 · 2014 · External reference
Aneurysm syndromes caused by mutations in the TGF-beta receptor
10.1056/nejmoa055695 · 2006 · External reference
Constitutive expression of a dominant-negative TGF-beta type II receptor in the posterior left atrium leads to beneficial remodeling of atrial fibrillation substrate
10.1161/circresaha.115.307878 · 2016 · External reference
Pivotal role of TGF-beta/smad signaling in cardiac fibrosis: non-coding RNAs as effectual players
10.3389/fcvm.2020.588347 · 2020 · External reference
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene
10.1002/mgg3.396 · 2018 · External reference
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
10.1038/ng.744 · 2011 · External reference
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
10.1016/j.ajhg.2011.05.007 · 2011 · External reference
FBN2 Pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
10.1080/03008207.2024.2340004 · 2024 · External reference
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction
10.1136/jmg-2023-109278 · 2024 · External reference
Cerebral small vessel disease-related protease HtrA1 processes latent TGF-beta binding protein 1 and facilitates TGF-beta signaling
10.1073/pnas.1418087111 · 2014 · External reference
HTRA1 Expression profile and activity on TGF-beta signaling in HTRA1 mutation carriers
10.1002/jcp.29609 · 2020 · External reference
Genetics of syndromic and non-syndromic mitral valve prolapse
10.1136/heartjnl-2017-312420 · 2018 · External reference
DZIP1 Regulates mammalian cardiac valve development through a Cby1-beta-catenin mechanism
10.1002/dvdy.342 · 2021 · External reference
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study
10.1093/eurheartj/ehx505 · 2018 · External reference
Filamin-A as a balance between erk/smad activities during cardiac valve development
10.1002/ar.23911 · 2019 · External reference
Genetic association analyses highlight biological pathways underlying mitral valve prolapse
10.1038/ng.3383 · 2015 · External reference
Endocardial to myocardial notch-wnt-bmp axis regulates early heart valve development
10.1371/journal.pone.0060244 · 2013 · External reference
LMCD1/Dyxin Is a novel transcriptional cofactor that restricts GATA6 function by inhibiting DNA binding
10.1128/mcb.25.20.8864-8873.2005 · 2005 · External reference
Arrhythmogenic mitral valve prolapse: can we risk stratify and prevent sudden cardiac death?
10.15420/aer.2023.26 · 2024 · External reference
Contribution of LRP1 in human congenital heart disease correlates with its roles in the outflow tract and atrioventricular cushion development
10.3390/genes14040947 · 2023 · External reference
Low-density lipoprotein receptor-related protein-1: role in the regulation of vascular integrity
10.1161/atvbaha.113.301924 · 2014 · External reference
Integrin beta1D deficiency-mediated RyR2 dysfunction contributes to catecholamine-sensitive ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy
10.1161/circulationaha.119.043504 · 2020 · External reference
Novel role for vinculin in ventricular myocyte mechanics and dysfunction
10.1016/j.bpj.2013.02.021 · 2013 · External reference
MYH11 Mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
10.1093/hmg/ddm201 · 2007 · External reference
Molecular structure and function of microfibrillar-associated proteins in skeletal and metabolic disorders and cancers
10.1002/jcp.29893 · 2021 · External reference
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
10.1186/s12881-016-0326-y · 2016 · External reference
MYLK Pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
10.1038/s41436-018-0038-0 · 2019 · External reference
Managing the aorta in patients with a PRKG1 mutation
10.1016/j.jtcvs.2018.09.097 · 2019 · External reference
Cyclic GMP and PKG signaling in heart failure
10.3389/fphar.2022.792798 · 2022 · External reference
Ehlers-Danlos syndrome
10.1136/bcr.05.2009.1850 · 2009 · External reference
Clinical and genetic aspects of ehlers-danlos syndrome, classic type
10.1097/gim.0b013e3181eed412 · 2010 · External reference
Arterial fragility in kyphoscoliotic ehlers-danlos syndrome
10.1136/bcr-2018-224423 · 2018 · External reference
Single-cell analysis reveals lysyl oxidase (Lox)(+) fibroblast subset involved in cardiac fibrosis of diabetic mice
10.1016/j.jare.2023.01.018 · 2023 · External reference
The role of lysyl oxidase enzymes in cardiac function and remodeling
10.3390/cells8121483 · 2019 · External reference
Elastin, arterial mechanics, and cardiovascular disease
10.1152/ajpheart.00087.2018 · 2018 · External reference
Arterial stiffness and atrial fibrillation: a review
10.1016/j.clinsp.2022.100014 · 2022 · External reference
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
10.1186/s13023-021-01696-6 · 2021 · External reference
Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome
10.1086/504304 · 2006 · External reference
Compromised cardiopulmonary function in fibulin-5 deficient mice
10.1115/1.4053873 · 2022 · External reference
Focus on molecules: fibulin-3 (EFEMP1)
10.1016/j.exer.2009.09.018 · 2010 · External reference
PUM2 Regulates the formation of thoracic aortic dissection through EFEMP1
10.1016/j.yexcr.2023.113602 · 2023 · External reference
Association of mitral annular disjunction with cardiovascular outcomes among patients with Marfan syndrome
10.1001/jamacardio.2021.2312 · 2021 · External reference
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections
10.1016/j.ajhg.2014.10.018 · 2014 · External reference
MFAP5 variant-induced multiple giant thoracic aortic aneurysm
10.1017/s1047951123004122 · 2024 · External reference
ADAMTS10 Mutations in autosomal recessive Weill-Marchesani syndrome
10.1086/425231 · 2004 · External reference
Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment
10.1007/s11033-024-09255-5 · 2024 · External reference
Role of ADAM and ADAMTS proteases in pathological tissue remodeling
10.1038/s41420-023-01744-z · 2023 · External reference
Ablation of biglycan attenuates cardiac hypertrophy and fibrosis after left ventricular pressure overload
10.1016/j.yjmcc.2016.10.011 · 2016 · External reference
Perlecan (HSPG2) promotes structural, contractile, and metabolic development of human cardiomyocytes
10.1016/j.celrep.2023.113668 · 2024 · External reference
Mutation in TNXB gene causes moderate to severe ehlers-danlos syndrome
10.5496/wjmg.v6.i2.17 · 2016 · External reference
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
10.1016/j.ajhg.2013.04.003 · 2013 · External reference
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic ehlers-danlos syndrome
10.1186/s13023-017-0704-3 · 2017 · External reference
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
10.1093/hmg/ddy234 · 2018 · External reference
Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican
10.1083/jcb.141.5.1277 · 1998 · External reference
The extracellular matrix proteoglycan lumican improves survival and counteracts cardiac dilatation and failure in mice subjected to pressure overload
10.1038/s41598-019-45651-9 · 2019 · External reference
Recombinant decorin fusion protein attenuates murine abdominal aortic aneurysm formation and rupture
10.1038/s41598-017-16194-8 · 2017 · External reference
ADAMTS2: more than a procollagen N-proteinase
10.1016/j.gendis.2025.101686 · 2025 · External reference
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
10.1038/ng1764 · 2006 · External reference
SPARC Production by bone marrow-derived cells contributes to myocardial fibrosis in pressure overload
10.1152/ajpheart.00552.2020 · 2021 · External reference
Homozygous/compound heterozygous triadin mutations associated with autosomal-recessive long-QT syndrome and pediatric sudden cardiac arrest: elucidation of the triadin knockout syndrome
10.1161/circulationaha.115.015397 · 2015 · External reference
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness
10.1038/nn.2694 · 2011 · External reference
Catecholaminergic polymorphic ventricular tachycardia: a review of therapeutic strategies
10.1016/j.ccep.2023.04.002 · 2023 · External reference
Current updates on arrhythmia within timothy syndrome: genetics, mechanisms and therapeutics
10.1017/erm.2023.11 · 2023 · External reference
Yield of the RYR2 genetic test in suspected catecholaminergic polymorphic ventricular tachycardia and implications for test interpretation
10.1161/circgen.116.001424 · 2018 · External reference
SCN5A Variants: association with cardiac disorders
10.3389/fphys.2018.01372 · 2018 · External reference
Defining the cellular phenotype of “ankyrin-B syndrome” variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes
10.1161/circulationaha.106.656512 · 2007 · External reference
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
10.1038/nature01335 · 2003 · External reference
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
10.1073/pnas.0402546101 · 2004 · External reference
A novel CACNA1C mutation identified in a patient with timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects
10.1016/j.hrcr.2018.03.003 · 2018 · External reference
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia
10.1161/01.res.0000038886.18992.6b · 2002 · External reference
Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms
10.1093/cvr/cvaa082 · 2020 · External reference
HCN4 And arrhythmias: insights into base mutations
10.1016/j.mrrev.2025.108534 · 2025 · External reference
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel
10.1056/nejmoa052475 · 2006 · External reference
PO-03-098 distinct atrial arrhythmia profiles among heritable aortopathies: comparative analysis of Marfan, Loeys-Dietz, and vascular EDS
10.1016/j.hrthm.2026.03.837 · 2026 · External reference
Ventricular tachycardia in patients with vascular Ehlers-Danlos syndrome vs Marfan syndrome: an international database analysis
10.1093/eurheartj/ehaf784.606 · 2025 · External reference
Cardiac surgical outcomes and predictors of redo sternotomy in patients with Marfan syndrome: a retrospective multicentre cohort study
10.1136/openhrt-2026-004138 · 2026 · External reference
Postoperative outcomes and valvular involvement in Loeys-Dietz syndrome: a multicenter cohort study of surgical risk and complications
10.1016/j.amjcard.2025.08.032 · 2025 · External reference
26-A-16150-ACC Prevalence and sex-based differences in cardiac arrhythmias among adults with nonsyndromic thoracic aortic disease
10.1016/j.jacc.2026.02.139 · 2026 · External reference
Frequency of arrhythmias and postural orthostatic tachycardia syndrome in patients with Marfan syndrome: a nationwide inpatient study
10.1161/jaha.121.024939 · 2022 · External reference
Assessment of myocardial fibrosis in Marfan syndrome using cardiac magnetic resonance imaging
10.1002/mgg3.70024 · 2024 · External reference
Mitral annular disjunction is associated with ventricular arrhythmias in children with Marfan syndrome
10.1016/j.echo.2025.02.014 · 2025 · External reference
Genetic problems, diagnosis, and cardiovascular manifestations of Loeys-Dietz syndrome
10.1097/crd.0000000000000544 · 2024 · External reference
The burden of cardiac arrhythmias in Loeys-Dietz syndrome: prevalence, etiology, and therapeutic interventions
10.1016/j.jacadv.2025.102269 · 2025 · External reference
Mitral annular disjunction on cardiac MRI: prevalence and association with disease severity in Loeys-Dietz syndrome
10.1016/j.ijcard.2023.131276 · 2023 · External reference
Arrhythmias and myocardial fragility in Ehlers-Danlos syndrome: complications after routine ICD placement
10.1016/j.hrcr.2018.03.008 · 2018 · External reference
Therapeutic difficulties in a patient with Ehlers-Danlos syndrome and numerous symptomatic premature ventricular contractions-case report and literature review
10.3389/fcvm.2023.1171541 · 2023 · External reference
The utility of the implantable loop recorder in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorder
10.1515/jom-2025-0036 · 2026 · External reference
Arrhythmias in Williams syndrome
10.1016/j.amjcard.2023.03.004 · 2023 · External reference
Is osteogenesis Imperfecta associated with cardiovascular abnormalities? A systematic review of the literature
10.1007/s00223-023-01171-3 · 2024 · External reference
The role of cardiovascular surgery in the management of a patient diagnosed with congenital cutis laxa syndrome complicated by multivalvular heart disease
10.7759/cureus.19359 · 2021 · External reference
Weill-Marchesani syndrome
External reference
Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation
10.1016/j.rec.2019.10.010 · 2020 · External reference
Efficacy and safety of atrial fibrillation ablation in patients with Marfan syndrome: a multicenter analysis
10.1016/j.hroo.2026.03.022 · 2026 · External reference
