Research

Arterial tortuosity syndrome: 40 new families and literature review. Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, CallewaertB.Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] PMID: 29323665

Pregnancy in Women With SMAD3 Mutation.van Hagen IM, van der Linde D, van de Laar IM, MuiñoMosquera L, De Backer J, Roos-Hesselink JW. J Am CollCardiol. 2017 Mar 14;69(10):1356-1358. doi: 10.1016/j.jacc.2016.12.029. No abstract available. PMID: 28279300

Organisation of care for pregnancy in patients with congenital heart disease. Roos-Hesselink JW1, Budts W2, Walker F3, De Backer JFA4, Swan L5, Stones W6,7, Kranke P8,9, Sliwa-Hahnle K10,11, Johnson MR12. Heart. 2017 Dec;103(23):1854-1859. doi: 10.1136/heartjnl-2017-311758. Epub 2017 Jul 24. PMID: 28739807

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C.J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. PMID: 27582083

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3. Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Hum Mutat. 2018 Feb 1. doi: 10.1002/humu.23407. [Epub ahead of print]

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM.J Med Genet. 2019 Jan 19. pii: jmedgenet-2018-105583. doi: 10.1136/jmedgenet-2018-105583. [Epub ahead of print] PMID: 30661052

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era. Benke K, Ágg B, Meienberg J, Kopps AM, Fattorini N, Stengl R, Daradics N, Pólos M, Bors A, Radovits T, Merkely B, De Backer J, Szabolcs Z, Mátyás G.J Thorac Dis. 2018 Apr;10(4):2456-2460. doi: 10.21037/jtd.2018.04.40. PMID: 29850152

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.PMID: 30071989

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. Review. PMID: 29452988

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A.Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12.

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B.J Med Genet. 2018 Jul 2. pii: jmedgenet-2018-105304. doi: 10.1136/jmedgenet-2018-105304. [Epub ahead of print]PMID: 29967133

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. PMID: 29392890

Campens L, Baris L, Scott NS, Broberg CS, Bondue A, Jondeau G, Grewal J, Johnson MR, Hall R, De Backer J, Roos-Hesselink JW; ROPAC investigators group. Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease Heart. 2021 Jan 19:heartjnl-2020-318183. doi: 10.1136/heartjnl-2020-318183. Epub ahead of print. PMID: 33468574.

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M.Genet Med. 2020 Aug 28. doi: 10.1038/s41436-020-00947-4. Online ahead of print. PMID: 32855533

*Features of Marfan syndrome not listed in the Ghent nosology – The Dark Side of the Disease.von Kodolitsch Y, Demolder A, Girdauskas E, Kaemmerer H, Kornhuber K, Muino Mosquera L, Morris S, Neptune E, Pyeritz R, Rand-Hendriksen S, Rahman A, Riise N, Robert L, Staufenbiel I, Szöcs K, Vanem TT, Linke SJ, Vogler M, Yetman A, De Backer J.Expert Rev Cardiovasc Ther. 2019 Dec 12. doi: 10.1080/14779072.2019.1704625. [Epub ahead of print]PMID: 31829751*J Clin Med. 2019 Nov 29;8(12). pii: E2079. doi: 10.3390/jcm8122079. 

Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome. Mühlstädt K, De Backer J, von Kodolitsch Y, Kutsche K, Muiño Mosquera L, Brickwedel J, Girdauskas E, Mir TS, Mahlmann A, Tsilimparis N, Staebler A, Schoof L, Seidel H, Berger J, Bernhardt AM, Blankenberg S, Kölbel T, Detter C, Szöcs K, Kaemmerer H.

*European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixidó-Turà G, Robert L, Emmanuel Y, Evangelista A, Pini A, von Kodolitsch Y, Jondeau G, De Backer J.Orphanet J Rare Dis. 2019 Nov 21;14(1):264. doi: 10.1186/s13023-019-1186-2.PMID: 31752940 Free PMC Article

*Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. De Backer J, Bondue A, Budts W, Evangelista A, Gallego P, Jondeau G, Loeys B, Peña ML, Teixido-Tura G, van de Laar I, Verstraeten A, Roos Hesselink J.Eur J Prev Cardiol. 2019 Jun 11:2047487319854552. doi: 10.1177/2047487319854552. [Epub ahead of print]PMID: 31184212

*Curr Opin Cardiol. 2019 Aug 7. doi: 10.1097/HCO.0000000000000669. [Epub ahead of print]Genetic testing for aortopathies: primer for the nongeneticist. De Backer J, Jondeau G, Boileau C.

Eur Heart J. 2019 Mar 25. pii: ehz136. doi: 10.1093/eurheartj/ehz136. [Epub ahead of print] Pregnancy outcomes in women with cardiovascular disease: evolving trends over 10 years in the ESC Registry Of Pregnancy And Cardiac disease (ROPAC).Roos-Hesselink J, Baris L, Johnson M, De Backer J, Otto C, Marelli A, Jondeau G, Budts W, Grewal J, Sliwa K, Parsonage W, Maggioni AP, van Hagen I, Vahanian A, Tavazzi L, Elkayam U, Boersma E, Hall R.

*Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease. Campens L, Baris L, Scott NS, Broberg CS, Bondue A, Jondeau G, Grewal J, Johnson MR, Hall R, De Backer J, Roos-Hesselink JW; ROPAC investigators group.Heart. 2021 Jan 19:heartjnl-2020-318183. doi: 10.1136/heartjnl-2020-318183. Online ahead of print.PMID: 33468574.

Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.de la Fuente-Alonso A, Toral M, Alfayate A, Ruiz-Rodríguez MJ, Bonzón-Kulichenko E, Teixido-Tura G, Martínez-Martínez S, Méndez-Olivares MJ, López-Maderuelo D, González-Valdés I, Garcia-Izquierdo E, Mingo S, Martín CE, Muiño-Mosquera L, De Backer J, Nistal JF, Forteza A, Evangelista A, Vázquez J, Campanero MR, Redondo JM. Nat Commun. 2021 May 11;12(1):2628. doi: 10.1038/s41467-021-22933-3. PMID: 33976159.

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Pitcher A, Spata E, Emberson J, Davies K, Halls H, Holland L, Wilson K, Reith C, Child AH, Clayton T, Dodd M, Flather M, Jin XY, Sandor G, Groenink M, Mulder B, De Backer J, Evangelista A, Forteza A, Teixido-Turà G, Boileau C, Jondeau G, Milleron O, Lacro RV, Sleeper LA, Chiu HH, Wu MH, Neubauer S, Watkins H, Dietz H, Baigent C; Marfan Treatment Trialists’ Collaboration. Lancet. 2022 Sep 10;400(10355):822-831. doi: 10.1016/S0140-6736(22)01534-3. Epub 2022 Aug 29. PMID: 36049495; PMCID: PMC7613630.

* = VASCERN acknowledged