Article
Cardiac & Cardiovascular Systems
Monica Chivulescu, Kirsten Krohg-Sorensen, Esther Scheirlynck, Beate R. Lindberg, Lars A. Dejgaard, Oyvind H. Lie, Thomas Helle-Valle, Eystein T. Skjolsvik, Mette E. Estensen, Thor Edvardsen, Per S. Lingaas, Kristina H. Haugaa
Summary: The study found a high prevalence of MAD in patients with MFS and LDS, and MAD was closely associated with aortic events and the need for mitral valve surgery, suggesting that MAD may be a marker of severe disease in MFS and LDS patients.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2021)
Article
Genetics & Heredity
Konstantinia Almpani, Denise K. Liberton, Priyam Jani, Cyrus Keyvanfar, Rashmi Mishra, Natasha Curry, Pamela Orzechowski, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee
Summary: The study provides a comprehensive analysis of craniofacial and functional features among LDS subtypes and SGS, revealing developmental abnormalities associated with mutation variants along the TGF-beta signalling pathway. Results show that LDS type 2 patients exhibit the greatest craniofacial shape variation, while SGS patients cluster distinctly. The study highlights the impact of mutations on the TGF-beta pathway on craniofacial anomalies with severe downstream effects on cranial base structures and clinical phenotypes.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Daniel Maghsoudi, Thomas R. W. Nixon, Martin P. Snead
Summary: Loeys-Dietz syndrome is a connective tissue disorder similar to Marfan syndrome, but retinal detachment is rarely reported. This study reports a 5-generation family affected by LDS, where 6 eyes of 4 individuals had retinal detachment. The study suggests that ophthalmic examination should be added to the initial assessment of LDS patients and patients should be informed of the early warning symptoms of retinal detachment.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Cardiac & Cardiovascular Systems
Yoshimasa Seike, Hitoshi Matsuda, Yosuke Inoue, Hiroaki Sasaki, Hiroko Morisaki, Takayuki Morisaki, Junjiro Kobayashi
Summary: This study compares the surgical outcomes between Marfan syndrome with mutations in the fibrillin gene and Loeys-Dietz syndrome with mutations in transforming growth factor-beta receptor 1 and 2. The results show that Loeys-Dietz syndrome patients have higher rates of reoperation, particularly for aortic arch. The study suggests that aggressive arch surgery should be recommended in the initial operation for Loeys-Dietz syndrome patients to prevent additional aortic events.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Otorhinolaryngology
Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim
Summary: LDS is a rare genetic disorder characterized by a wide spectrum of aortic aneurysm and arterial tortuosity. This study focused on the audiologic, otologic, and craniofacial manifestations of LDS, finding that conductive hearing loss, bifid uvula/cleft palate, and tympanic membrane perforation are more common in certain types of LDS. Sensorineural hearing loss, on the other hand, is only present in specific types of LDS.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2022)
Article
Genetics & Heredity
Stefano Nistri, Rosina De Cario, Elena Sticchi, Gaia Spaziani, Matteo Della Monica, Sabrina Giglio, Silvia Favilli, Betti Giusti, Pierluigi Stefano, Guglielmina Pepe
Summary: Marfan syndrome (MFS) and Loeys-Dietz syndrome type 4 (LDS4) are two hereditary connective tissue disorders with overlapping clinical manifestations but different characteristics, and age plays a role in the onset of symptoms.
Article
Cardiac & Cardiovascular Systems
Yoshimasa Seike, Koki Yokawa, Shigeki Koizumi, Kenta Masada, Yosuke Inoue, Hiroko Morisaki, Takayuki Morisaki, Hiroaki Sasaki, Hitoshi Matsuda
Summary: This study evaluated the surgical outcomes of valve-sparing root replacement in patients with Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). The results showed that patients with MFS and LDS had similar incidences of aortic valve insufficiency and aortic valve reoperation. However, patients with LDS had a higher risk of aortic dissection and aortic reoperation after the initial operation.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2022)
Article
Psychology, Multidisciplinary
Carolina Baeza-Velasco, Nuria Rodriguez, Laura Parra, Teresa Gutierrez-Rosado
Summary: This study examined the impact of vascular Ehlers-Danlos syndrome (vEDS) and Loeys-Dietz syndrome (LDS) on patients' daily lives. The results showed that these patients experienced higher levels of anxiety, depression, fatigue, sleep problems, and lower quality of life compared to healthy individuals. However, they displayed optimal psychosocial adjustment and utilized appropriate coping strategies. Further research is needed to better understand the psychosocial aspects and needs of individuals with these rare diseases.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Gastroenterology & Hepatology
Xiao Jing Wang, Mary Babameto, Dusica Babovic-Vuksanovic, Juan M. Bowen, Michael Camilleri
Summary: This study summarized the abdominal manifestations in patients with LDS and vEDS, revealing a propensity for gastrointestinal symptoms, abdominal hernias, and aneurysm formation in both disorders. However, arterial repair was more prevalent in LDS patients compared to vEDS patients.
DIGESTIVE DISEASES AND SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Aroa Ruiz-Munoz, Andrea Guala, Jose Rodriguez-Palomares, Lydia Dux-Santoy, Luz Servato, Angela Lopez-Sainz, Lucia La Mura, Chiara Granato, Javier Limeres, Teresa Gonzalez-Alujas, Laura Galian-Gay, Laura Gutierrez, Kevin Johnson, Oliver Wieben, Augusto Sao-Aviles, Ignacio Ferreira-Gonzalez, Arturo Evangelista, Gisela Teixido-Tura
Summary: Aortic stiffness is higher in Loeys-Dietz syndrome (LDS) patients, with reduced rotational flow and abnormal wall shear stress compared to healthy volunteers (HV). However, LDS patients showed similar aortic stiffness and overlapping aortic flow features when compared to Marfan syndrome (MFS) patients.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Peter Ewert, Frank Harig
Summary: The aim of the study was to explore the relationship between aortic size and body composition in Marfan syndrome and Loeys-Dietz syndrome patients. The results revealed that many patients did not fit the expected slender phenotype and were obese, which was associated with a more severe aortic phenotype.
CARDIOVASCULAR DIAGNOSIS AND THERAPY
(2022)
Article
Cardiac & Cardiovascular Systems
Sebastian Freilinger, Mathieu N. Suleiman, Gert Bischoff, Peter Ewert, Annika Freiberger, Michael Huntgeburth, Ann-Sophie Kaemmerer, Judith Schopen, Christian Meierhofer, Nicole Nagdyman, Harald Kaemmerer, Michael Weyand, Frank Harig
Summary: In this study, the body composition of patients with MFS/LDS was assessed using bioelectrical impedance analysis. It was found that many patients with MFS/LDS are obese, which is often overlooked. BIA was shown to be a superior method for evaluating body composition compared to routine anthropometric parameters. These findings highlight the importance of assessing obesity in MFS/LDS patients for vascular risk evaluation.
REVIEWS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Przemyslaw Chmielewski, Joanna K. Poninska, Ewa Michalak, Ilona Michalowska, Ilona Kowalik, Grazyna Truszkowska, Monika Kugaudo, Ilona Minota, Piotr Stawinski, Rafal Ploski, Zofia T. Bilinska
Summary: Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder associated with aortic complications, commonly occurring in young individuals. This study analyzed clinical data of LDS patients and observed a high prevalence of cardiovascular complications.
KARDIOLOGIA POLSKA
(2023)
Article
Genetics & Heredity
Anthony L. Guerrerio, Allyson Mateja, Marjohn Rasooly, Samara Levin, Alaina Magnani, Caeden Dempsey, Gretchen MacCarrick, Harry C. Dietz, Erica Brittain, Alison M. Boyce, Pamela A. Frischmeyer-Guerrerio
Summary: Loeys-Dietz syndrome (LDS) patients commonly have reduced bone density and increased risk of fractures, possibly due to increased bone resorption. Certain clinical features can predict a subgroup of patients at highest risk of low bone density and fractures.
GENETICS IN MEDICINE
(2022)
Review
Cardiac & Cardiovascular Systems
Pishoy Gouda, Robert Kay, Marina Habib, Amir Aziz, Eitan Aziza, Robert Welsh
Summary: Loeys-Dietz syndrome (LDS) is a multisystem connective tissue disorder caused by mutations in the transforming growth factor 1 signalling pathway. It is characterized by features such as aortic aneurysms and dissections, arterial tortuosity, and high arched palate. Different types of LDS have varying clinical features and complications, with LDS Type 2 being associated with more severe aortic disease.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
