Loeys-Dietz syndrome: 2026 updated care management primer

Gretchen MacCarrick; Rana O. Afifi; Rebecca Allen; Konstantinia Almpani; James H. Black; Alison M. Boyce; Alan C. Braverman; Duke E. Cameron; Justin Caplan; Elena Cervi; Myung Jin Cha; Julie Christensen; Ingrid M.B.H. van de Laar; Erin Demo; Wendy Dewals; Alexander J. Doyle; Jefferson J. Doyle; Michael P. Fischbein; Julie Fleischer; Fernando Fleischman; Pamela A. Frischmeyer-Guerrerio; Anthony L. Guerrerio; Anna L. Huguenard; Priyam H. Jani; Christopher P. Jordan; H. Jeffrey Kim; Alice Krebsová; Radka Kockova; Janice S. Lee; Katie Lobner; Nupoor Narula; Ava Niknahad; Enid Neptune; Albert J. Pedroza; Monique Perry; Julie Richer; Jennifer Rios-Sanchez; Mary J. Roman; Melissa Russo; Jonathan Schweber; Sherene Shalhub; Rebecca Sorber; Traci Speed; Paul D. Sponseller; T. L. Vincent; Anna Whelan; Steven R. Zeiler; Bart Loeys; Harry C. Dietz

doi:10.1016/j.gim.2026.102577

Loeys-Dietz syndrome: 2026 updated care management primer

Gretchen MacCarrick^*
, Rana O. Afifi
, Rebecca Allen
, Konstantinia Almpani
, James H. Black
, Alison M. Boyce
, Alan C. Braverman
, Duke E. Cameron
, Justin Caplan
, Elena Cervi
, Myung Jin Cha
, Julie Christensen
, Ingrid M.B.H. van de Laar
, Erin Demo
, Wendy Dewals
, Alexander J. Doyle
, Jefferson J. Doyle
, Michael P. Fischbein
, Julie Fleischer
, Fernando Fleischman

Pamela A. Frischmeyer-Guerrerio, Anthony L. Guerrerio, Anna L. Huguenard, Priyam H. Jani, Christopher P. Jordan, H. Jeffrey Kim, Alice Krebsová, Radka Kockova, Janice S. Lee, Katie Lobner, Nupoor Narula, Ava Niknahad, Enid Neptune, Albert J. Pedroza, Monique Perry, Julie Richer, Jennifer Rios-Sanchez, Mary J. Roman, Melissa Russo, Jonathan Schweber, Sherene Shalhub, Rebecca Sorber, Traci Speed, Paul D. Sponseller, T. L. Vincent, Anna Whelan, Steven R. Zeiler, Bart Loeys, Harry C. Dietz

^*Corresponding author for this work

Clinical Genetics

Johns Hopkins School of Medicine
University of Texas Health Science Center at Houston
Alpert Medical School of Brown University
National Institutes of Health
Washington University School of Medicine in St. Louis
Great Ormond Street Hospital for Children NHS Foundation Trust
Children's Healthcare of Atlanta
University of Antwerp
Royal Cornwall Hospitals NHS Trust
Wilmer Eye Institute
Stanford University School of Medicine
Southern Illinois University School of Medicine
University of Southern California
University of Maryland, Baltimore
Inova Health System
Georgetown University
Institute for Clinical and Experimental Medicine
Na Homolce Hospital
Cornell University
University of Ottawa
University of Toronto
Oregon Health and Science University
University of Oxford
University of Massachusetts Medical School

Research output: Contribution to journal › Review article › Academic › peer-review

1 Citation (Scopus)

62 Downloads (Pure)

Abstract

Loeys-Dietz syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations, such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The article provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform health care providers, and improve patient outcomes through individualized care strategies for those living with LDS.

Original language	English
Article number	102577
Journal	Genetics in Medicine
Volume	28
Issue number	7
DOIs	https://doi.org/10.1016/j.gim.2026.102577
Publication status	Published - Jul 2026

Bibliographical note

Publisher Copyright:
© 2026 The Authors.

Access to Document

10.1016/j.gim.2026.102577Licence: CC BY-NC-ND

Loeys-Dietz syndromeFinal published version, 1.41 MBLicence: CC BY-NC-ND

Cite this

MacCarrick, G., Afifi, R. O., Allen, R., Almpani, K., Black, J. H., Boyce, A. M., Braverman, A. C., Cameron, D. E., Caplan, J., Cervi, E., Cha, M. J., Christensen, J., van de Laar, I. M. B. H., Demo, E., Dewals, W., Doyle, A. J., Doyle, J. J., Fischbein, M. P., Fleischer, J., ... Dietz, H. C. (2026). Loeys-Dietz syndrome: 2026 updated care management primer. Genetics in Medicine, 28(7), Article 102577. https://doi.org/10.1016/j.gim.2026.102577

@article{eb5226412f5b4d7cbbebed222bdd3e30,

title = "Loeys-Dietz syndrome: 2026 updated care management primer",

abstract = "Loeys-Dietz syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations, such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The article provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform health care providers, and improve patient outcomes through individualized care strategies for those living with LDS.",

author = "Gretchen MacCarrick and Afifi, \{Rana O.\} and Rebecca Allen and Konstantinia Almpani and Black, \{James H.\} and Boyce, \{Alison M.\} and Braverman, \{Alan C.\} and Cameron, \{Duke E.\} and Justin Caplan and Elena Cervi and Cha, \{Myung Jin\} and Julie Christensen and \{van de Laar\}, \{Ingrid M.B.H.\} and Erin Demo and Wendy Dewals and Doyle, \{Alexander J.\} and Doyle, \{Jefferson J.\} and Fischbein, \{Michael P.\} and Julie Fleischer and Fernando Fleischman and Frischmeyer-Guerrerio, \{Pamela A.\} and Guerrerio, \{Anthony L.\} and Huguenard, \{Anna L.\} and Jani, \{Priyam H.\} and Jordan, \{Christopher P.\} and Kim, \{H. Jeffrey\} and Alice Krebsov{\'a} and Radka Kockova and Lee, \{Janice S.\} and Katie Lobner and Nupoor Narula and Ava Niknahad and Enid Neptune and Pedroza, \{Albert J.\} and Monique Perry and Julie Richer and Jennifer Rios-Sanchez and Roman, \{Mary J.\} and Melissa Russo and Jonathan Schweber and Sherene Shalhub and Rebecca Sorber and Traci Speed and Sponseller, \{Paul D.\} and Vincent, \{T. L.\} and Anna Whelan and Zeiler, \{Steven R.\} and Bart Loeys and Dietz, \{Harry C.\}",

note = "Publisher Copyright: {\textcopyright} 2026 The Authors.",

year = "2026",

month = jul,

doi = "10.1016/j.gim.2026.102577",

language = "English",

volume = "28",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier",

number = "7",

}

MacCarrick, G, Afifi, RO, Allen, R, Almpani, K, Black, JH, Boyce, AM, Braverman, AC, Cameron, DE, Caplan, J, Cervi, E, Cha, MJ, Christensen, J, van de Laar, IMBH, Demo, E, Dewals, W, Doyle, AJ, Doyle, JJ, Fischbein, MP, Fleischer, J, Fleischman, F, Frischmeyer-Guerrerio, PA, Guerrerio, AL, Huguenard, AL, Jani, PH, Jordan, CP, Kim, HJ, Krebsová, A, Kockova, R, Lee, JS, Lobner, K, Narula, N, Niknahad, A, Neptune, E, Pedroza, AJ, Perry, M, Richer, J, Rios-Sanchez, J, Roman, MJ, Russo, M, Schweber, J, Shalhub, S, Sorber, R, Speed, T, Sponseller, PD, Vincent, TL, Whelan, A, Zeiler, SR, Loeys, B & Dietz, HC 2026, 'Loeys-Dietz syndrome: 2026 updated care management primer', Genetics in Medicine, vol. 28, no. 7, 102577. https://doi.org/10.1016/j.gim.2026.102577

TY - JOUR

T1 - Loeys-Dietz syndrome

T2 - 2026 updated care management primer

AU - MacCarrick, Gretchen

AU - Afifi, Rana O.

AU - Allen, Rebecca

AU - Almpani, Konstantinia

AU - Black, James H.

AU - Boyce, Alison M.

AU - Braverman, Alan C.

AU - Cameron, Duke E.

AU - Caplan, Justin

AU - Cervi, Elena

AU - Cha, Myung Jin

AU - Christensen, Julie

AU - van de Laar, Ingrid M.B.H.

AU - Demo, Erin

AU - Dewals, Wendy

AU - Doyle, Alexander J.

AU - Doyle, Jefferson J.

AU - Fischbein, Michael P.

AU - Fleischer, Julie

AU - Fleischman, Fernando

AU - Frischmeyer-Guerrerio, Pamela A.

AU - Guerrerio, Anthony L.

AU - Huguenard, Anna L.

AU - Jani, Priyam H.

AU - Jordan, Christopher P.

AU - Kim, H. Jeffrey

AU - Krebsová, Alice

AU - Kockova, Radka

AU - Lee, Janice S.

AU - Lobner, Katie

AU - Narula, Nupoor

AU - Niknahad, Ava

AU - Neptune, Enid

AU - Pedroza, Albert J.

AU - Perry, Monique

AU - Richer, Julie

AU - Rios-Sanchez, Jennifer

AU - Roman, Mary J.

AU - Russo, Melissa

AU - Schweber, Jonathan

AU - Shalhub, Sherene

AU - Sorber, Rebecca

AU - Speed, Traci

AU - Sponseller, Paul D.

AU - Vincent, T. L.

AU - Whelan, Anna

AU - Zeiler, Steven R.

AU - Loeys, Bart

AU - Dietz, Harry C.

PY - 2026/7

Y1 - 2026/7

N2 - Loeys-Dietz syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations, such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The article provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform health care providers, and improve patient outcomes through individualized care strategies for those living with LDS.

AB - Loeys-Dietz syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations, such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The article provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform health care providers, and improve patient outcomes through individualized care strategies for those living with LDS.

UR - https://www.scopus.com/pages/publications/105041342234

U2 - 10.1016/j.gim.2026.102577

DO - 10.1016/j.gim.2026.102577

M3 - Review article

C2 - 41988792

AN - SCOPUS:105041342234

SN - 1098-3600

VL - 28

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 7

M1 - 102577

ER -

Loeys-Dietz syndrome: 2026 updated care management primer

Abstract

Bibliographical note

Access to Document

Other files and links

Fingerprint

Cite this