Article
Clinical Neurology
Carlos Perez-Vega, Ricardo A. Domingo, Shashwat Tripathi, Andres Ramos-Fresnedo, Jaime L. Martinez Santos, Rudy J. Rahme, William D. Freeman, Sukhwinder S. Sandhu, David A. Miller, Bernard R. Bendok, Waleed Brinjikji, Alfredo Quinones-Hinojosa, Fredric B. Meyer, Rabih G. Tawk, W. Christopher Fox
Summary: Patients with Loeys-Dietz syndrome have an increased risk of intracranial aneurysms, especially in those with a history of smoking. The prevalence rate of intracranial aneurysms in this series was 30%. Screening imaging should be considered at diagnosis, and patients should be encouraged to quit smoking. Further studies are needed to determine the risk of aneurysm rupture and treatment considerations in this unique population.
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)
Review
Pediatrics
Francesco Baldo, Laura Morra, Agnese Feresin, Flavio Faletra, Yasmin Al Naber, Luigi Memo, Laura Travan
Summary: Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by cardiovascular manifestations, craniofacial and skeletal features, and other abnormalities. Early diagnosis is crucial in preventing complications. Case reports and literature review suggest that early intervention can modify the natural history of the disease, highlighting the multiple benefits of early diagnosis.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Cardiac & Cardiovascular Systems
Felipe Sanchez Tijmes, Victor Siang Hua Chan, Jillian Murphy, Dalia Abdulmonem L. Hashem, Kate Hanneman, Rachel M. Wald, Paaladinesh Thavendiranathan, Maral Ouzounian, Erwin Oechslin, Gauri R. Karur
Summary: This study evaluated the impact of mitral annular disjunction (MAD) on cardiac magnetic resonance imaging in Loeys-Dietz Syndrome (LDS) and found that MAD is highly prevalent in LDS, associated with progressive aortic dilatation and aortic events at younger age. MAD may be a marker of disease severity necessitating close surveillance.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
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
Cardiac & Cardiovascular Systems
Albert J. Pedroza, Paul Cheng, Alex R. Dalal, Kathrin Baeumler, Aya Kino, Emily Tognozzi, Rohan Shad, Nobu Yokoyama, Ken Nakamura, Olivia Mitchel, William Hiesinger, Elena Gallo Macfarlane, Dominik Fleischmann, Y. Joseph Woo, Thomas Quertermous, Michael P. Fischbein
Summary: Patients with Loeys-Dietz syndrome who undergo prophylactic aortic arch replacement during valve-sparing aortic root replacement demonstrate excellent surgical outcomes without overt downstream flow or shear stress disturbances. Abnormal smooth muscle cell-mediated aortic remodeling occurs within the normal diameter, clinically at-risk Loeys-Dietz syndrome arch segment.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2023)
Article
Cardiac & Cardiovascular Systems
Zachary T. Jost, Charlie J. Sang, Pongtawat Lertwilaiwittaya, Gregory D. Chapman
Summary: This case report discusses a patient with Loeys-Dietz syndrome who was found to have a coronary artery aneurysm, which is a rare finding in the initial presentation of the disease. Guidelines regarding evaluation and management of aortic root disease and coronary aneurysms are also examined in this discussion.
EUROPEAN HEART JOURNAL-CASE REPORTS
(2022)
Article
Surgery
Haruki Tanaka, Kazuki Naito, Shota Kobayashi, Kazunori Komatsu
Summary: A 60-year-old man with Loeys-Dietz syndrome (LDS) underwent surgery for multiple left deep femoral artery aneurysms (DFAAs). Intraoperative graft replacement was performed, with the common femoral artery connected to the distal DFAAs and the superficial femoral artery sutured to the graft. Coexistence of DFAAs with LDS and the occurrence of multiple DFAAs are rare, with no previous studies reporting this. Graft replacement was chosen as the optimal treatment for this patient, emphasizing the importance of individualized treatment plans for patients with LDS. Lower limb arterial examination should be considered alongside screening for LDS.
JOURNAL OF VASCULAR SURGERY CASES INNOVATIONS AND TECHNIQUES
(2023)
Article
Surgery
Sandrine Darigny, Parla Astarci, Maxime Elens
Summary: This case report highlights the major aortic complications in a male patient with Loeys-Dietz syndrome and the need for multiple surgical procedures to achieve complete recovery.
VASCULAR AND ENDOVASCULAR SURGERY
(2022)
Article
Cardiac & Cardiovascular Systems
Ivan I. Skopin, Valerii S. Arakelyan, Nickolai A. Tchurikov, Andrei M. Belyaev
Summary: A 16-year-old female presented with left iliac fossa pain and was diagnosed with Loeys-Dietz syndrome due to mutations in the SMAD3 gene. Surgery successfully treated the left internal iliac artery aneurysm.
INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Willa Li, William Cohen, Pamela Combs, Joshua Wong, Rohit Loomba, Brian K. Lee, Chawki El-Zein, Michel Ilbawi, Luca Vricella, Narutoshi Hibino
Summary: Loeys-Dietz syndrome, a connective tissue disorder known for aggressive aortopathy in paediatric patients, rarely presents cardiovascular events in infancy. We report the first successful aortic repair in a neonate with LDS who presented in extremis with an early onset, massive aortic aneurysm.
CARDIOLOGY IN THE YOUNG
(2021)
Article
Genetics & Heredity
Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro
Summary: Loeys-Dietz syndrome is a heritable disorder closely related to Marfan syndrome. This study identified a novel SMAD3 variant, leading to reduced transcription activity in vitro, but paradoxical upregulation of TGF-beta signaling in the aortic wall. Further research is needed to clarify the mechanism underlying this paradox and the impact of SMAD3 variant on the syndrome phenotype.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Silvy Dekker, Carlijn G. E. Thijssen, Denise Vd Linde, Ingrid M. B. H. Vd Laar, Jasper J. Saris, Adriaan C. G. M. van Es, Pieter-Jan Van Doormaal, Paul van Bronswijk, Fop van Kooten, Jolien W. Roos-Hesselink
Summary: The aim of this study was to investigate neurovascular findings and their clinical impact in patients with Loeys Dietz syndrome type III. The results showed that the majority of patients had neurovascular abnormalities such as aneurysms, tortuosity, coiling, and kinking, but clinical events were rare. Neurovascular screening and follow-up are recommended for all patients with Loeys Dietz syndrome type III.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Editorial Material
Ophthalmology
Varsha S. Sathappan, Kanwal S. Matharu, David K. Coats, Evelyn A. Paysse
Summary: A 19-year-old male with Loeys-Dietz syndrome and Duane syndrome presented with recurrent progressive exotropia 17 years after initial surgery. Surgical correction was aborted due to extreme atrophy of the right medial rectus, lateral rectus, and superior rectus muscles.
Article
Radiology, Nuclear Medicine & Medical Imaging
A. Zugazaga, M. A. Stachno, A. Garcia, G. Tovar, V. Benito, I. Guasch, I. Nogueira, P. Puyalto, J. Sampere
Summary: Pulmonary artery pseudoaneurysms (PAPs) are rare vascular abnormalities mainly caused by infections and trauma, with endovascular techniques replacing surgical approaches as the primary treatment method for their lower invasiveness and higher safety. Early and accurate diagnosis of PAP is crucial for prompt endovascular management to prevent life-threatening hemoptysis.
EUROPEAN RADIOLOGY
(2021)