Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

Yordi-Michaël Bouhatous; Pauline Arnaud; Guillaume Jondeau; Dominique Bonneau; Frédéric Rouleau; Ghislaine Plessis; Aline Vincent; Fabien Labombarda; Pascale Maragnes; Julian Delanne; Matthias Muller; Christine Coubes; Charlene Bredy; Laurent Gouya; Sylvie Odent; Adeline Basquin; Sophie Dupuis-Girod; Martine Barthelet; Emmanuelle Ginglinger; Bruno Delobel; Guy Vaksmann; Jean-Luc Alessandri; Louis André Arsac; Edouard Thomas; Sophie Julia; Bertrand Chesneau; Yves Dulac; Bert Callewaert; Bart Loeys; Maxim Vaerle; Leonie A. Menke; Maarten Groenink; Lesley Ades; Maria Juliana Ballesta-Martinez; Alan L. Shanske; Sigrid Tinschert; Petra Gehle; Christel Thauvin-Robinet; Jean-Christophe Eicher; Sylvie Falcon-Eicher; Catherine Boileau; Christine Binquet; Nadine Hanna; Laurence Faivre

doi:10.1136/jmg-2024-110341

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

Yordi-Michaël Bouhatous^*
, Pauline Arnaud
, Guillaume Jondeau
, Dominique Bonneau
, Frédéric Rouleau
, Ghislaine Plessis
, Aline Vincent
, Fabien Labombarda
, Pascale Maragnes
, Julian Delanne
, Matthias Muller
, Christine Coubes
, Charlene Bredy
, Laurent Gouya
, Sylvie Odent
, Adeline Basquin
, Sophie Dupuis-Girod
, Martine Barthelet
, Emmanuelle Ginglinger
, Bruno Delobel

Guy Vaksmann, Jean-Luc Alessandri, Louis André Arsac, Edouard Thomas, Sophie Julia, Bertrand Chesneau, Yves Dulac, Bert Callewaert, Bart Loeys, Maxim Vaerle, Leonie A. Menke, Maarten Groenink, Lesley Ades, Maria Juliana Ballesta-Martinez, Alan L. Shanske, Sigrid Tinschert, Petra Gehle, Christel Thauvin-Robinet, Jean-Christophe Eicher, Sylvie Falcon-Eicher, Catherine Boileau, Christine Binquet, Nadine Hanna, Laurence Faivre^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Background: Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics. Methods: We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS. Results: The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036). Conclusion: Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.

Original language	English
Pages (from-to)	600-606
Number of pages	7
Journal	Journal of medical genetics
Volume	62
Issue number	9
Early online date	2025
DOIs	https://doi.org/10.1136/jmg-2024-110341
Publication status	Published - 1 Sept 2025
Externally published	Yes

Keywords

Aneurysm
Arrhythmias, Cardiac
Genetic Diseases, Inborn
Vascular Diseases

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10.1136/jmg-2024-110341

Cite this

Bouhatous, Y.-M., Arnaud, P., Jondeau, G., Bonneau, D., Rouleau, F., Plessis, G., Vincent, A., Labombarda, F., Maragnes, P., Delanne, J., Muller, M., Coubes, C., Bredy, C., Gouya, L., Odent, S., Basquin, A., Dupuis-Girod, S., Barthelet, M., Ginglinger, E., ... Faivre, L. (2025). Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS. Journal of medical genetics, 62(9), 600-606. https://doi.org/10.1136/jmg-2024-110341

@article{f3781378804549179eafae991e0f89f4,

title = "Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS",

abstract = "Background: Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics. Methods: We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS. Results: The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8\%) had mitral regurgitation (MR), 11 (37.9\%) had a thoracic aortic aneurysm (TAA) and 9 (31.1\%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47\%, 33\% and 22\% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036). Conclusion: Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.",

keywords = "Aneurysm, Arrhythmias, Cardiac, Genetic Diseases, Inborn, Vascular Diseases",

author = "Yordi-Micha{\"e}l Bouhatous and Pauline Arnaud and Guillaume Jondeau and Dominique Bonneau and Fr{\'e}d{\'e}ric Rouleau and Ghislaine Plessis and Aline Vincent and Fabien Labombarda and Pascale Maragnes and Julian Delanne and Matthias Muller and Christine Coubes and Charlene Bredy and Laurent Gouya and Sylvie Odent and Adeline Basquin and Sophie Dupuis-Girod and Martine Barthelet and Emmanuelle Ginglinger and Bruno Delobel and Guy Vaksmann and Jean-Luc Alessandri and Arsac, \{Louis Andr{\'e}\} and Edouard Thomas and Sophie Julia and Bertrand Chesneau and Yves Dulac and Bert Callewaert and Bart Loeys and Maxim Vaerle and Menke, \{Leonie A.\} and Maarten Groenink and Lesley Ades and Ballesta-Martinez, \{Maria Juliana\} and Shanske, \{Alan L.\} and Sigrid Tinschert and Petra Gehle and Christel Thauvin-Robinet and Jean-Christophe Eicher and Sylvie Falcon-Eicher and Catherine Boileau and Christine Binquet and Nadine Hanna and Laurence Faivre",

note = "Publisher Copyright: {\textcopyright} Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ Group.",

year = "2025",

month = sep,

day = "1",

doi = "10.1136/jmg-2024-110341",

language = "English",

volume = "62",

pages = "600--606",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "9",

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Bouhatous, Y-M, Arnaud, P, Jondeau, G, Bonneau, D, Rouleau, F, Plessis, G, Vincent, A, Labombarda, F, Maragnes, P, Delanne, J, Muller, M, Coubes, C, Bredy, C, Gouya, L, Odent, S, Basquin, A, Dupuis-Girod, S, Barthelet, M, Ginglinger, E, Delobel, B, Vaksmann, G, Alessandri, J-L, Arsac, LA, Thomas, E, Julia, S, Chesneau, B, Dulac, Y, Callewaert, B, Loeys, B, Vaerle, M, Menke, LA , Groenink, M, Ades, L, Ballesta-Martinez, MJ, Shanske, AL, Tinschert, S, Gehle, P, Thauvin-Robinet, C, Eicher, J-C, Falcon-Eicher, S, Boileau, C, Binquet, C, Hanna, N & Faivre, L 2025, 'Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS', Journal of medical genetics, vol. 62, no. 9, pp. 600-606. https://doi.org/10.1136/jmg-2024-110341

TY - JOUR

T1 - Shprintzen-Goldberg syndrome

T2 - follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

AU - Bouhatous, Yordi-Michaël

AU - Arnaud, Pauline

AU - Jondeau, Guillaume

AU - Bonneau, Dominique

AU - Rouleau, Frédéric

AU - Plessis, Ghislaine

AU - Vincent, Aline

AU - Labombarda, Fabien

AU - Maragnes, Pascale

AU - Delanne, Julian

AU - Muller, Matthias

AU - Coubes, Christine

AU - Bredy, Charlene

AU - Gouya, Laurent

AU - Odent, Sylvie

AU - Basquin, Adeline

AU - Dupuis-Girod, Sophie

AU - Barthelet, Martine

AU - Ginglinger, Emmanuelle

AU - Delobel, Bruno

AU - Vaksmann, Guy

AU - Alessandri, Jean-Luc

AU - Arsac, Louis André

AU - Thomas, Edouard

AU - Julia, Sophie

AU - Chesneau, Bertrand

AU - Dulac, Yves

AU - Callewaert, Bert

AU - Loeys, Bart

AU - Vaerle, Maxim

AU - Menke, Leonie A.

AU - Groenink, Maarten

AU - Ades, Lesley

AU - Ballesta-Martinez, Maria Juliana

AU - Shanske, Alan L.

AU - Tinschert, Sigrid

AU - Gehle, Petra

AU - Thauvin-Robinet, Christel

AU - Eicher, Jean-Christophe

AU - Falcon-Eicher, Sylvie

AU - Boileau, Catherine

AU - Binquet, Christine

AU - Hanna, Nadine

AU - Faivre, Laurence

PY - 2025/9/1

Y1 - 2025/9/1

N2 - Background: Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics. Methods: We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS. Results: The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036). Conclusion: Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.

AB - Background: Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics. Methods: We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS. Results: The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036). Conclusion: Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.

KW - Aneurysm

KW - Arrhythmias, Cardiac

KW - Genetic Diseases, Inborn

KW - Vascular Diseases

UR - https://www.scopus.com/pages/publications/105009741246

U2 - 10.1136/jmg-2024-110341

DO - 10.1136/jmg-2024-110341

M3 - Article

C2 - 40562530

SN - 0022-2593

VL - 62

SP - 600

EP - 606

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 9

ER -

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

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