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
Genetics & Heredity
Jinjie Li, Liu Yang, Yanjun Diao, Lei Zhou, Yijuan Xin, Liqing Jiang, Rui Li, Juan Wang, Weixun Duan, Jiayun Liu
Summary: This study utilized NGS to screen 212 TAAD patients in northwestern China and found a 31.60% positive rate of (likely) pathogenic variants, with 77 variants first reported. A genotype-phenotype correlation of FBN1 was assessed, and it was observed that family history may affect the positive rate of genetic testing in TAAD patients.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
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
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
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
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
Pediatrics
Pierluigi Zaza, Flavia Indrio, Annalisa Fracchiolla, Matteo Rinaldi, Giovanni Meliota, Alessia Salatto, Antonio Bonacaro, Gianfranco Maffei
Summary: Loeys-Dietz syndrome is a rare genetic disorder with diverse manifestations, diagnosis relies on genetic testing, and early diagnosis is crucial for prognosis.
Article
Cardiac & Cardiovascular Systems
Yue Xuan, Sara N. D'Souza, Zhongjie Wang, Alejandro Suarez Pierre, Jennifer S. Lawton, Liang Ge, Elaine E. Tseng
Summary: Peak wall stresses in Marfan SOV-thoracic aortic aneurysm were highest in SOV compared to STJ and AscAo. Diameter was poorly correlated with peak stresses.
ANNALS OF THORACIC SURGERY
(2022)
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
Clinical Neurology
Anna L. Huguenard, Gabrielle W. Johnson, Rupen R. Desai, Joshua W. Osbun, Ralph G. Dacey, Alan C. Braverman
Summary: This study evaluated the incidence of phenotypic abnormalities, craniofacial features, and Chiari malformation type I (CM-I) in patients with Loeys-Dietz syndrome (LDS), as well as explored possible risk factors for the development of intracranial aneurysms. The results showed a significant association between CM-I and the presence of intracranial aneurysms, while the craniofacial severity index (CFI) was not correlated. Therefore, surveillance for intracranial aneurysms should be conducted in all LDS patients, regardless of the severity of their phenotypes.
JOURNAL OF NEUROSURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
Angela Lopez-Sainz, Laia Mila, Jose Rodriguez-Palomares, Javier Limeres, Chiara Granato, Lucia La Mura, Ana Sabate, Andrea Guala, Laura Gutierrez, Laura Galian-Gay, Augusto Sao-Aviles, Sergi Bellmunt, Rafael Rodriguez, Hug Cuellar-Calabria, Albert Roque, Ignacio Ferreira-Gonzalez, Artur Evangelista, Gisela Teixido-Tura
Summary: This study revealed that aortic branch aneurysms are present in approximately one-quarter of patients with MFS, are associated with patient age and aortic dilation, and independently predict the need for aortic surgery.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Oncology
Yanyu Duan, Haiying Chang, Jiayuan Ling, Shaoqiang Liu, Yiming Zhong
Summary: This study aims to further understand Marfan syndrome by analyzing the clinical manifestation of a novel FBN1 variant. The FBN1 variant c.5081_5082insT (p.Leu1694fs*9) was found to be a pathogenic mutation associated with early-onset familial thoracic aortic aneurysms in MFS patients.
ANNALS OF TRANSLATIONAL MEDICINE
(2021)
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.
Review
Cardiac & Cardiovascular Systems
Xuan Odofin, Nour Houbby, Arwa Hagana, Ibrahim Nasser, Amna Ahmed, Amer Harky
Summary: Patients with connective tissue diseases are at high risk of developing thoracic aortic aneurysms. Early detection and treatment are crucial to prevent complications.
JOURNAL OF CARDIAC SURGERY
(2021)
Article
Genetics & Heredity
Guoyan Zhu, Mingyao Luo, Qianlong Chen, Yinhui Zhang, Kun Zhao, Yujing Zhang, Chang Shu, Hang Yang, Zhou Zhou
Summary: This study identified the first TAAD case in an Asian population with biallelic LTBP3 null mutations. Furthermore, rare heterozygous LTBP3 variants were also detected in other sporadic TAAD patients, providing more clinical evidence to support LTBP3's association with TAAD. The incorporation of LTBP3 into routine genetic analysis of heritable aortopathy could improve the understanding of its phenotypic spectrum and enhance the diagnostic rate of TAAD.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Oncology
Marina Wang, Saud Aldubayan, Ashton A. Connor, Beatrix Wong, Kate Mcnamara, Tahsin Khan, Kara Semotiuk, Sam Khalouei, Spring Holter, Melyssa Aronson, Zane Cohen, Steve Gallinger, George Charames, Aaron Pollett, Jordan Lerner-Ellis
Article
Multidisciplinary Sciences
Amaro Taylor-Weiner, Travis Zack, Elizabeth O'Donnell, Jennifer L. Guerriero, Brandon Bernard, Anita Reddy, G. Celine Han, Saud AlDubayan, Ali Amin-Mansour, Steven E. Schumacher, Kevin Litchfield, Clare Turnbull, Stacey Gabriel, Rameen Beroukhim, Gad Getz, Scott L. Carter, Michelle S. Hirsch, Anthony Letai, Christopher Sweeney, Eliezer M. . Van Allen
Article
Medicine, General & Internal
C. C. Pritchard, J. Mateo, M. F. Walsh, N. De Sarkar, W. Abida, H. Beltran, A. Garofalo, R. Gulati, S. Carreira, R. Eeles, O. Elemento, M. A. Rubin, D. Robinson, R. Lonigro, M. Hussain, A. Chinnaiyan, J. Vinson, J. Filipenko, L. Garraway, M. -E. Taplin, S. AlDubayan, G. C. Han, M. Beightol, C. Morrissey, B. Nghiem, H. H. Cheng, B. Montgomery, T. Walsh, S. Casadei, M. Berger, L. Zhang, A. Zehir, J. Vijai, H. I. Scher, C. Sawyers, N. Schultz, P. W. Kantoff, D. Solit, M. Robson, E. M. Van Allen, K. Offit, J. de Bono, P. S. Nelson
NEW ENGLAND JOURNAL OF MEDICINE
(2016)
Article
Emergency Medicine
Saud H. Aldubayan, Lance H. Rodan, Gerard T. Berry, Harvey L. Levy
PEDIATRIC EMERGENCY CARE
(2017)
Article
Oncology
Franklin W. Huang, Juan Miguel Mosquera, Andrea Garofalo, Coyin Oh, Maria Baco, Ali Amin-Mansour, Bokang Rabasha, Samira Bahl, Stephanie A. Mullane, Brian D. Robinson, Saud Aldubayan, Francesca Khani, Beerinder Karir, Eejung Kim, Jeremy Chimene-Weiss, Matan Hofree, Alessandro Romanel, Joseph R. Osborne, Jong Wook Kim, Gissou Azabdaftari, Anna Woloszynska-Read, Karen Sfanos, Angelo M. De Marzo, Francesca Demichelis, Stacey Gabriel, Eliezer M. Van Allen, Jill Mesirov, Pablo Tamayo, Mark A. Rubin, Isaac J. Powell, Levi A. Garraway
Article
Emergency Medicine
Saud H. Aldubayan, Lance H. Rodan, Gerard T. Berry, Harvey L. Levy
PEDIATRIC EMERGENCY CARE
(2017)