Research & Literature

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome.

von Kodolitsch Y, De Backer J, Schüler H, et al.

The application of clinical genetics 2015; (8()):137-55 doi:10.2147/TACG.S60472.

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.

Kwun Y, Kim SJ, Lee J, et al.

Journal of Korean medical science 2015; (30(7)):911-6 doi:10.3346/jkms.2015.30.7.911.

Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.

Zeyer KA, Reinhardt DP

Mutation research. Reviews in mutation research 2015; (765()):7-18.

Prevalence, incidence, and age at diagnosis in Marfan Syndrome.

Groth KA, Hove H, Kyhl K, et al.

Orphanet journal of rare diseases 2015; (10()):153 doi:10.1186/s13023-015-0369-8.

Long-term outcomes of aortic root operations for Marfan syndrome: A comparison of Bentall versus aortic valve-sparing procedures.

Price J, Magruder JT, Young A, et al.

The Journal of thoracic and cardiovascular surgery 2016; (151(2)):330-6.

Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.

Singh MN, Lacro RV

The Canadian journal of cardiology 2016; (32(1)):66-77.

Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.

Maeda J, Kosaki K, Shiono J, et al.

Heart and vessels 2016; (31(10)):1717-23 doi:10.1007/s00380-016-0793-2.

Infantile Marfan syndrome in a Korean tertiary referral center.

Seo YJ, Lee KE, Kim GB, et al.

Korean journal of pediatrics 2016; (59(2)):59-64 doi:10.3345/kjp.2016.59.2.59.

Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

Yang H, Luo M, Chen Q, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (459()):30-35 doi:10.1016/j.cca.2016.05.021.

Marfan syndrome: current perspectives.

Pepe G, Giusti B, Sticchi E, et al.

The application of clinical genetics 2016; (9()):55-65 doi:10.2147/TACG.S96233.

Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders.

Penpattharakul W, Pithukpakorn M

Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2016; (99(1)):34-9.

Clinical Characteristics of Marfan Syndrome in Korea.

Lim AY, Song JS, Kim EK, et al.

Korean circulation journal 2016; (46(6)):841-845 doi:10.4070/kcj.2016.46.6.841.

Peripartum type B aortic dissection in patients with Marfan syndrome who underwent aortic root replacement: a case series study.

Sayama S, Takeda N, Iriyama T, et al.

BJOG : an international journal of obstetrics and gynaecology 2018; (125(4)):487-493 doi:10.1111/1471-0528.14635.

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.

Gibson C, Nielsen C, Alex R, et al.

Journal of applied physiology (Bethesda, Md. : 1985) 2017; (123(1)):147-160 doi:10.1152/japplphysiol.00132.2017.

Marfan Syndrome.

Sivasankari T, Mathew P, Austin RD, Devi S

Journal of pharmacy & bioallied sciences 2017; (9(1)):73-77 doi:10.4103/jpbs.JPBS_326_16.

Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.

Martínez-Quintana E, Caballero-Sánchez N, Rodríguez-González F, et al.

Molecular syndromology 2017; (8(3)):148-154 doi:10.1159/000467909.

Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.

Rippe M, De Backer J, Kutsche K, et al.

International journal of cardiology. Heart & vasculature 2016; (10()):39-46 doi:10.1016/j.ijcha.2016.01.002.

The N-Terminal Region of Fibrillin-1 Mediates a Bipartite Interaction with LTBP1.

Robertson IB, Dias HF, Osuch IH, et al.

Structure (London, England : 1993) 2017; (25(8)):1208-1221.e5 doi:10.1016/j.str.2017.06.003.

Cardiovascular outcomes of pregnancy in Marfan's syndrome patients: A literature review.

Kim SY, Wolfe DS, Taub CC

Congenital heart disease 2018; (13(2)):203-209 doi:10.1111/chd.12546.

Unprovoked Pulmonary Embolism in a Young Patient with Marfan Syndrome.

Pak S, Kilgore A, Thornhill R, et al.

Cureus 2017; (9(9)):e1655 doi:10.7759/cureus.1655.

Three-Channeled Aortic Dissection in a Patient without Marfan Syndrome.

Arita YI, Akutsu K, Yamamoto T, et al.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia 2018; (24(2)):110-114 doi:10.5761/atcs.cr.17-00066.

Betaglycan (TGFBR3) up-regulation correlates with increased TGF-β signaling in Marfan patient fibroblasts in vitro.

Groeneveld ME, Bogunovic N, Musters RJP, et al.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2018; (32()):44-49 doi:10.1016/j.carpath.2017.10.003.

Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

Quiñones-Pérez B, VanNoy GE, Towne MC, et al.

American journal of medical genetics. Part A 2018; (176(3)):560-569 doi:10.1002/ajmg.a.38590.

Executive function and quality of life in individuals with Marfan syndrome.

Ratiu I, Virden TB, Baylow H, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2018; (27(8)):2057-2065 doi:10.1007/s11136-018-1859-7.

Losartan Versus Atenolol for Prevention of Aortic Dilation in Patients With Marfan Syndrome.

Teixido-Tura G, Forteza A, Rodríguez-Palomares J, et al.

Journal of the American College of Cardiology 2018; (72(14)):1613-1618 doi:10.1016/j.jacc.2018.07.052.

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.

Handisides JC, Hollenbeck-Pringle D, Uzark K, et al.

The Journal of pediatrics 2019; (204()):250-255.e1 doi:10.1016/j.jpeds.2018.08.061.

Renal cystic disease in the Fbn1C1039G/+ Marfan mouse is associated with enhanced aortic aneurysm formation.

Hibender S, Wanga S, van der Made I, et al.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2019; (38()):1-6 doi:10.1016/j.carpath.2018.10.002.

The impact of co-morbidity on the quality of life of people with dementia: findings from the IDEAL study.

Nelis SM, Wu YT, Matthews FE, et al.

Age and ageing 2019; (48(3)):361-367 doi:10.1093/ageing/afy155.

Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults.

Wozniak-Mielczarek L, Sabiniewicz R, Drezek-Nojowicz M, et al.

Pediatric cardiology 2019; (40(2)):393-403 doi:10.1007/s00246-018-2025-2.

Marfan syndrome in a term-pregnant woman with aortic root dilatation between 40 and 45 mm.

Delgado García DR, Latorre Andreu P, Fernández Tomás B, Tébar Cuesta MI

Revista espanola de anestesiologia y reanimacion 2019; (66(1)):49-52 doi:10.1016/j.redar.2018.08.007.

Pregnancy after Aortic Root Replacement in Marfan's Syndrome: A Case Series and Review of the Literature.

Williams D, Lindley KJ, Russo M, et al.

AJP reports 2018; (8(4)):e234-e240 doi:10.1055/s-0038-1675347.

Stanford type B aortic dissection associated with pregnancy in patients with Marfan syndrome-A case report and review of the literature.

Nishino H, Suda K, Kuramaoto A, et al.

Journal of cardiology cases 2010; (1(3)):e180-e183 doi:10.1016/j.jccase.2009.12.010.

Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective.

Esfandiari H, Ansari S, Mohammad-Rabei H, Mets MB

Journal of ophthalmic & vision research 2019; (14(1)):71-77 doi:10.4103/jovr.jovr_29_18.

Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome.

Milleron O, Ropers J, Arnoult F, et al.

Circulation. Cardiovascular imaging 2019; (12(3)):e008129 doi:10.1161/CIRCIMAGING.118.008129.

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.

Madar L, Szakszon K, Pfliegler G, et al.

Journal of biotechnology 2019; (301()):105-111 doi:10.1016/j.jbiotec.2019.05.012.

Transforming Growth Factor β Receptor Type I Inhibitor, Galunisertib, Has No Beneficial Effects on Aneurysmal Pathological Changes in Marfan Mice.

Park JH, Kim MS, Ham S, et al.

Biomolecules & therapeutics 2020; (28(1)):98-103 doi:10.4062/biomolther.2019.042.

Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.

Warnink-Kavelaars J, Beelen A, Goedhart TMHJ, et al.

European journal of pediatrics 2019; (178(12)):1883-1892 doi:10.1007/s00431-019-03469-7.

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Mannucci L, Luciano S, Salehi LB, et al.

Clinica chimica acta; international journal of clinical chemistry 2020; (501()):154-164 doi:10.1016/j.cca.2019.10.037.

Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.

Vanem TT, Böker T, Sandvik GF, et al.

American journal of medical genetics. Part A 2020; (182(2)):397-408 doi:10.1002/ajmg.a.61441.

Acute aortic dissection in a patient with Marfan syndrome during advanced pregnancy.

Kostadinovska B, Nikolic A, Slaveski D, Milojevic M

Journal of cardiac surgery 2020; (35(2)):499-502 doi:10.1111/jocs.14408.

Biomarkers of Aortopathy in Marfan Syndrome.

Iskandar Z, Mordi I, Lang CC, et al.

Cardiology in review 2020; (28(2)):92-97 doi:10.1097/CRD.0000000000000289.

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome.

Milleron O, Arnoult F, Delorme G, et al.

Journal of the American College of Cardiology 2020; (75(8)):843-853 doi:10.1016/j.jacc.2019.12.043.

A Case of an Abdominal Aortic Dissection in a Hemodynamically Stable Marfan Syndrome Patient Presenting without Pain.

Al-Mohamad H, Stout K, Bolling T, Walsh R

Case reports in cardiology 2020; (2020()):1704150 doi:10.1155/2020/1704150.

Ulnar Artery Aneurysm as a Late Sequela of Marfan Syndrome.

Goodenough CJ, Afifi RO, Prakash SK, et al.

The Journal of hand surgery 2020; (45(11)):1090.e1-1090.e5 doi:10.1016/j.jhsa.2020.01.010.

Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.

Bombardieri E, Rohrbach M, Greutmann M, et al.

Swiss medical weekly 2020; (150()):w20189.

Aortic root valve-sparing repair and dissections in Marfans syndrome during pregnancy: A case series.

Cottrell J, Calhoun J, Szczepanski J, et al.

Journal of cardiac surgery 2020; (35(7)):1439-1443 doi:10.1111/jocs.14592.

Marfan syndrome revisited: From genetics to the clinic.

Coelho SG, Almeida AG

Revista portuguesa de cardiologia 2020; (39(4)):215-226 doi:10.1016/j.repc.2019.09.008.

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.

Grange T, Aubart M, Langeois M, et al.

Genes 2020; (11(5)) doi:10.3390/genes11050574.

Comparison of Evolution of Aortic Root Dilation and Ghent Criteria in Preadolescents and Adolescents with and without Marfan Syndrome.

Monteil DC, Shikany A, Aljeaid D, et al.

The Journal of pediatrics 2020; (221()):188-195.e1 doi:10.1016/j.jpeds.2020.03.005.

Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial.

van Andel MM, Indrakusuma R, Jalalzadeh H, et al.

European heart journal 2020; (41(43)):4181-4187 doi:10.1093/eurheartj/ehaa377.

Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link.

Yap WF, Chong HC

International journal of rheumatic diseases 2020; (23(11)):1568-1573 doi:10.1111/1756-185X.13965.

Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review.

Demolder A, von Kodolitsch Y, Muiño-Mosquera L, De Backer J

Diagnostics (Basel, Switzerland) 2020; (10(10)) doi:10.3390/diagnostics10100751.

Orthopaedic Conditions Associated with Aneurysms.

Marrache M, Byers PH, Sponseller PD

JBJS reviews 2020; (8(6)):e0122 doi:10.2106/JBJS.RVW.19.00122.

Challenges and experiences in correcting scoliosis of a patient with Marfan Syndrome: A case report.

Lumban Tobing SDA, Akbar DL

International journal of surgery case reports 2020; (76()):85-89 doi:10.1016/j.ijscr.2020.09.166.

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.

Hernándiz A, Zúñiga A, Valera F, et al.

Clinical genetics 2021; (99(2)):269-280 doi:10.1111/cge.13879.

A reimplantation valve-sparing root replacement (T. David-V) and aortic valve repair procedure in a patient with Marfan syndrome.

Van Praet KM, Stamm C, Kofler M, et al.

Multimedia manual of cardiothoracic surgery : MMCTS 2020; (2020()) doi:10.1510/mmcts.2020.070.

Dural ectasia and intracranial hypotension in Marfan syndrome.

Pichott A, Bernstein T, Guzmán G, et al.

Revista chilena de pediatria 2020; (91(4)):591-596 doi:10.32641/rchped.v91i4.1233.

Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease.

Campens L, Baris L, Scott NS, et al.

Heart (British Cardiac Society) 2021; (107(21)):1704-1709 doi:10.1136/heartjnl-2020-318183.

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.

Gezdirici A, Teralı K, Gülec EY, et al.

Journal of human genetics 2021; (66(7)):647-657 doi:10.1038/s10038-021-00899-w.

Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome.

Chen T, Deng M, Zhang M, et al.

Scientific reports 2021; (11(1)):2994 doi:10.1038/s41598-021-82586-6.

Giant Aortic Root Aneurysm in Marfan's Syndrome.

Bhasin D, Arora GK, Agstam S, et al.

The Journal of invasive cardiology 2021; (33(3)):E231-E232 doi:10.25270/jic/20.00130.

Acute Type A Dissection during Pregnancy with Marfan's Syndrome.

Heim C, Müller PP, Weyand M, Harig F

The Thoracic and cardiovascular surgeon reports 2021; (10(1)):e18-e21 doi:10.1055/s-0040-1722705.

Clinical relevance of genotype-phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants.

Arnaud P, Milleron O, Hanna N, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(7)):1296-1304 doi:10.1038/s41436-021-01132-x.

[Marfan syndrome and related disorders].

Eliahou L, Milleron O, Jondeau G

La Revue du praticien 2020; (70(9)):1005-1009.

Surgical options for aortic root aneurysm disease: which procedure, which patient.

Schill MR, Kachroo P

Current opinion in cardiology 2021; (36(6)):683-688 doi:10.1097/HCO.0000000000000902.

An Overview of Investigational and Experimental Drug Treatment Strategies for Marfan Syndrome.

Deleeuw V, De Clercq A, De Backer J, Sips P

Journal of experimental pharmacology 2021; (13()):755-779 doi:10.2147/JEP.S265271.

Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.

Duan Y, Li P, Ding T, et al.

Annals of palliative medicine 2021; (10(9)):9953-9962 doi:10.21037/apm-21-2305.

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.

Pollock L, Ridout A, Teh J, et al.

Current rheumatology reports 2021; (23(11)):81 doi:10.1007/s11926-021-01045-3.

How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination-Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus.

Wozniak-Mielczarek L, Osowicka M, Radtke-Lysek A, et al.

International journal of environmental research and public health 2022; (19(2)) doi:10.3390/ijerph19020772.

Clinical profile and outcome of ocular manifestation in Marfans syndrome in India.

Shah S, Shah M, Chandane P, et al.

Indian journal of ophthalmology 2022; (70(2)):626-629 doi:10.4103/ijo.IJO_1651_21.

An update of medical care in Marfan syndrome.

Chiu HH

Tzu chi medical journal 2022; (34(1)):44-48 doi:10.4103/tcmj.tcmj_95_20.

A Case Report of Marfan Syndrome Presenting With Atypical Chest Pain: A 28-Year-Old Male With Non-ST-Elevation Myocardial Infarction (NSTEMI).

Cheema T, Balek M, Smith P, Hanan S

Cureus 2022; (14(2)):e22040 doi:10.7759/cureus.22040.

Current trends in minimally invasive valve-sparing aortic root replacement-Best available evidence.

Sef D, Bahrami T, Raja SG, Klokocovnik T

Journal of cardiac surgery 2022; (37(6)):1684-1690 doi:10.1111/jocs.16453.

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

Suliman A, Yan W, Yamashita MH, et al.

European heart journal. Case reports 2022; (6(3)):ytac063 doi:10.1093/ehjcr/ytac063.

Valve-sparing versus valve-replacing aortic root replacement in patients with aortic root aneurysm.

Malaisrie SC, Kislitsina ON, Wilsbacher L, et al.

Journal of cardiac surgery 2022; (37(7)):1947-1956 doi:10.1111/jocs.16473.

Valve-sparing aortic root replacement using a straight tube graft (David I procedure).

Shrestha M, Boethig D, Krüger H, et al.

The Journal of thoracic and cardiovascular surgery 2023; (166(5)):1387-1397.e10 doi:10.1016/j.jtcvs.2022.01.061.

Swallowing and quality of life in individuals with Marfan syndrome: a cross-sectional study.

Baylow HE, Esfandiarei M, Ratiu I

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2022; (31(12)):3365-3375 doi:10.1007/s11136-022-03192-1.

A Forme Fruste of Marfan Syndrome: A Case Report.

Alsheikh N, Hawsawi SA, AlGhamdi A, et al.

Cureus 2022; (14(11)):e31231 doi:10.7759/cureus.31231.

Twenty-year experience of aortic valve reimplantation using the Valsalva graft.

Chirichilli I, Scaffa R, Irace FG, et al.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2023; (63(3)) doi:10.1093/ejcts/ezac591.

Health Supervision for Children and Adolescents With Marfan Syndrome.

Tinkle BT, Lacro RV, Burke LW,

Pediatrics 2023; (151(4)) doi:10.1542/peds.2023-061450.

Drug-based cardiovascular prevention in patients with Marfan Syndrome: a systematic review.

Pavasini R, Sanguettoli F, Deserio MA, et al.

Minerva cardiology and angiology 2023; (71(6)):611-621 doi:10.23736/S2724-5683.23.06184-7.

Ocular Involvement and Treatment Pattern in Korean Patients with Marfan Syndrome: A Population-Based Study.

Kim S, Han K, Park S, et al.

Ophthalmic epidemiology 2024; (31(2)):112-118 doi:10.1080/09286586.2023.2204153.

Nanoscale Structural Comparison of Fibrillin-1 Microfibrils Isolated from Marfan and Non-Marfan Syndrome Human Aorta.

Șulea CM, Mártonfalvi Z, Csányi C, et al.

International journal of molecular sciences 2023; (24(8)) doi:10.3390/ijms24087561.

Outcome of Stanford type B dissection in patients with Marfan syndrome.

Yildiz M, Nucera M, Jungi S, et al.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2023; (64(1)) doi:10.1093/ejcts/ezad178.

Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

Nyktari E, Drakopoulou M, Rozos P, et al.

Medicina (Kaunas, Lithuania) 2023; (59(5)) doi:10.3390/medicina59050942.

A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.

Lin J, Lin Y, Wang G

BMC medical genomics 2023; (16(1)):118 doi:10.1186/s12920-023-01551-6.

Early-onset Marfan syndrome with a novel missense mutation: A case report.

Soma K, Kitagawa Y, Toki T, et al.

Journal of cardiology cases 2023; (27(6)):283-286 doi:10.1016/j.jccase.2023.02.019.

Diverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.

Dhiman R, Kaur L, Sharma N, Pandey ML

Oman journal of ophthalmology 2023; (16(2)):310-313 doi:10.4103/ojo.ojo_108_22.

Life-Threatening Aortic Dissection during Pregnancy: A Case Report of Undiagnosed FBN1-Related Marfan Syndrome at 39 Weeks Gestation.

Gurrieri C, Manske WT, Williams C, et al.

The American journal of case reports 2023; (24()):e940628 doi:10.12659/AJCR.940628.

Genotype-phenotype spectrum and prognosis of early-onset Marfan syndrome.

Kemezyte A, Gegieckiene R, Burnyte B

BMC pediatrics 2023; (23(1)):539 doi:10.1186/s12887-023-04357-8.

[Depressive and anxiety symptoms in hereditary connective tissue disorders : case description and systematic literature review].

Vanwesemael M, Danckaerts M, Schevenels S, et al.

Tijdschrift voor psychiatrie 2023; (65(9)):572-579.

Research Progress on Aortic Root Aneurysms.

Du T, Wang W, Wang Y, et al.

Medical science monitor : international medical journal of experimental and clinical research 2024; (30()):e943216 doi:10.12659/MSM.943216.

Quality of life in young patients with acute type a aortic dissection in China: comparison with Marfan syndrome and non-Marfan syndrome.

Lin XF, Xie LF, Zhang ZF, et al.

BMC cardiovascular disorders 2024; (24(1)):132 doi:10.1186/s12872-024-03740-2.

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.

Baban A, Parlapiano G, Cicenia M, et al.

Journal of cardiovascular development and disease 2024; (11(4)) doi:10.3390/jcdd11040114.

An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome.

Van Den Heuvel LJF, Peeters S, Meester JAN, et al.

Drug discovery today 2024; (29(7)):104023 doi:10.1016/j.drudis.2024.104023.

MRI-Derived Dural Sac and Lumbar Vertebrae 3D Volumetry Has Potential for Detection of Marfan Syndrome.

Naas O, Norajitra T, Lückerath C, et al.

Diagnostics (Basel, Switzerland) 2024; (14(12)) doi:10.3390/diagnostics14121301.

Management of a pregnant woman with Marfan syndrome and aortic root and aberrant right subclavian artery aneurysm: a case report.

Voges I, Hoffmann U, Attman T, Uebing A

European heart journal. Case reports 2024; (8(8)):ytae411 doi:10.1093/ehjcr/ytae411.

Elective root replacement increases the risk of type B dissection in patients with Marfan syndrome.

Thomas R, Dhanekula AS, Byers P, et al.

The Journal of thoracic and cardiovascular surgery 2025; (170(3)):659-669.e5 doi:10.1016/j.jtcvs.2024.09.027.

Health-related quality of life in adults with Marfan syndrome.

Stanek Sörner A, Enelund M, Cider Å, Ashman Kröönström L

Cardiology in the young 2024; (34(12)):2514-2520 doi:10.1017/S1047951124025770.

Florida Sleeve Technique for an Aortic Root Aneurysm in a Marfan Syndrome Patient.

Kanemitsu S, Ishikawa R, Sakamoto S, Mizumoto T

Annals of vascular diseases 2024; (17(3)):304-308 doi:10.3400/avd.cr.24-00024.

Rare locations of peripheral aneurysms in Marfan syndrome treated surgically: a case report.

Ebrahimi N, Azari A, Maadarani O, et al.

BMC cardiovascular disorders 2024; (24(1)):610 doi:10.1186/s12872-024-04298-9.

A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum.

Hegazy Y, Abdallah A, Salem A, et al.

Cureus 2024; (16(12)):e76583 doi:10.7759/cureus.76583.

The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study.

Böker T, Kirkhus E, Pripp AH, et al.

Orphanet journal of rare diseases 2025; (20(1)):118 doi:10.1186/s13023-025-03628-0.

Prevalence of psychiatric and sleep disorders and their impact on quality of life in children with hypermobile Ehlers-Danlos syndrome: an observational study.

Hertel AK, Jones JT, Lytch A, et al.

Rheumatology international 2025; (45(4)):81 doi:10.1007/s00296-025-05836-0.

Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome.

Su C, Zeng L, Lu H, et al.

Frontiers in cardiovascular medicine 2025; (12()):1533138 doi:10.3389/fcvm.2025.1533138.

Clinical and Phenotypic Correlates of Mitral Valve Prolapse in Marfan Syndrome: The Cornell Aortic Aneurysm Registry.

Narula N, Schwartz Y, Devereux RB, et al.

Journal of the American Heart Association 2025; (14(10)):e040947 doi:10.1161/JAHA.125.040947.

Physical fitness and level of physical activity in adult patients with Marfan syndrome.

Nordeborn M, Brandt N, Cider Å, Ashman Kröönström L

Orphanet journal of rare diseases 2025; (20(1)):346 doi:10.1186/s13023-025-03869-z.

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome.

Mhlongo F, Feben C, Krause A, Carstens N

Frontiers in genetics 2025; (16()):1612411 doi:10.3389/fgene.2025.1612411.

Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.

Feng X, Qu C, Jia P, Zhang DD

Drug design, development and therapy 2025; (19()):7365-7379 doi:10.2147/DDDT.S523571.

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

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Journal of family medicine and primary care 2025; (14(9)):4073-4075 doi:10.4103/jfmpc.jfmpc_329_25.

Exercise Recommendations for Patients with Marfan Syndrome: An updated review.

Jayaratne N, Gianni A, Riding N, et al.

European journal of preventive cardiology 2025; doi:10.1093/eurjpc/zwaf692.

Pediatric Marfan Syndrome and Heart Transplantation: Insights From the PHIS Database.

Philip SS, Martinez HR, Mikulski MF, et al.

Pediatric transplantation 2025; (29(8)):e70227 doi:10.1111/petr.70227.

Role of Angiotensin Receptor Blockers on Cardiovascular Protection in Marfan Syndrome: A Literature Review.

Siraj HM, Bidkar SP, Hassan M, et al.

Health science reports 2025; (8(12)):e71592 doi:10.1002/hsr2.71592.