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
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.
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
Genetics & Heredity
Laia Brunet-Garcia, Pirasuja Prabaharan, Luc Bruyndonckx, Ella Field, Felice DArco, Claudio Capelli, Elena Cervi
Summary: This study investigated the differences in tortuosity index (TI) between genotypes of LDS and found that patients with LDS and TGFBR2 variants have greater values of TI. The greatest values of TI are associated with increased aortic root z-scores. As time progresses, TI decreases and less frequent follow-up can be considered.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
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
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)
Article
Physiology
Satoru Yamada, Kenichiro Tsushima, Masaki Kinoshita, Hiromi Sakashita, Tetsuhiro Kajikawa, Chiharu Fujihara, Hang Yuan, Shigeki Suzuki, Takayuki Morisaki, Shinya Murakami
Summary: The study revealed an association between Loeys-Dietz syndrome (LDS) and heterozygous missense mutations in TGF-beta receptor genes, leading to aggressive periodontitis in patients. By establishing a mouse model, it was shown that this mutation accelerates alveolar bone loss in periodontal tissues.
FRONTIERS IN PHYSIOLOGY
(2021)
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
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)
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)
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
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
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
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
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
Cardiac & Cardiovascular Systems
Yu Izawa, Shumpei Mori, Justin T. Tretter, James A. Quintessenza, Hiroyuki Toh, Takayoshi Toba, Yoshiaki Watanabe, Atsushi K. Kono, Kenji Okada, Ken-ichi Hirata
Summary: A study using coronary computed tomographic angiography investigated the anatomy of the aortic valve, revealing diversities and characteristic relationships among valvar dimensions. The aortic leaflets exhibited compensatory elongation to maintain a constant coaptation length.
CIRCULATION JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Kunihiko Kiuchi, Koji Fukuzawa, Mitsuru Takami, Yoshiaki Watanabe, Yu Izawa, Mayumi Shigeru, Hiroyuki Oonishi, Hideya Suehiro, Tomomi Akita, Makoto Takemoto, Atsusuke Yatomi, Toshihiro Nakamura, Jun Sakai, Kazutaka Nakasone, Yusuke Sonoda, Kyoko Yamamoto, Hiroyuki Takahara, Noriyuki Negi, Katsusuke Kyotani, Atsushi Kono, Ken-ichi Hirata
Summary: The study found that radiofrequency ablation of fragmented LGE areas in patients with persistent AF can result in favorable responses in half of the patients, either terminating AF or converting it to atrial tachycardia. The FLA ablation group had significantly lower AF recurrence at 12 months follow-up compared to the PVI group, and patients with a favorable response had lower rates of AT recurrence.
JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
(2021)
Article
Multidisciplinary Sciences
Munenobu Nogami, Feibi Zeng, Junko Inukai, Yoshiaki Watanabe, Mizuho Nishio, Tomonori Kanda, Yoshiko R. Ueno, Keitaro Sofue, Atsushi K. Kono, Masatoshi Hori, Akihito Ohnishi, Kazuhiro Kubo, Takako Kurimoto, Takamichi Murakami
Summary: This study retrospectively assessed the repeatability of physiological FDG uptake in the skin on PET/MRI, finding that uptake was highest in the face and varied between sexes, with age also influencing skin uptake.
Article
Cardiac & Cardiovascular Systems
Masataka Suzuki, Takayoshi Toba, Yu Izawa, Hiroshi Fujita, Keisuke Miwa, Yu Takahashi, Hiroyuki Toh, Hiroyuki Kawamori, Hiromasa Otake, Hidekazu Tanaka, Sei Fujiwara, Yoshiaki Watanabe, Atsushi K. Kono, Kenji Okada, Ken-Ichi Hirata
Summary: Myocardial ECV measured with dual-energy CT can serve as an independent predictor of adverse outcomes in patients undergoing aortic valve replacement.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yoko Shigemoto, Hiroshi Matsuda, Yukio Kimura, Emiko Chiba, Masahiro Ohnishi, Moto Nakaya, Norihide Maikusa, Masayo Ogawa, Yohei Mukai, Yuji Takahashi, Kazuya Sako, Hiroshi Toyama, Yoshitaka Inui, Yasuyuki Taki, Hiroshi Nagayama, Kenjiro Ono, Atsushi Kono, Kenji Sekiguchi, Shigeki Hirano, Noriko Sato
Summary: In this study, the effects of age and gender on striatal dopamine transporter (DaT) binding were investigated in a group of 256 healthy Japanese adults using single photon emission computed tomography (SPECT) scans. The results showed a decrease in DaT binding with advancing age, and higher DaT binding in the bilateral caudate in females compared to males. In the young to middle-aged subjects, females also showed higher DaT binding throughout the striatum. These findings provide important information for the construction of a detailed DaT database in healthy Japanese subjects.
ANNALS OF NUCLEAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Daisuke Tsuda, Shumpei Mori, Yu Izawa, Hiroyuki Toh, Masataka Suzuki, Yu Takahashi, Takayoshi Toba, Sei Fujiwara, Hidekazu Tanaka, Yoshiaki Watanabe, Atsushi K. Kono, Ken-ichi Hirata
Summary: The extent of septal bulge varies in normal hearts, and bidirectional bulge leads to the deformation and narrowing of the left ventricular outflow tract.
ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES
(2022)
Article
Cardiac & Cardiovascular Systems
Hiroshi Fujita, Takayoshi Toba, Keisuke Miwa, Masataka Suzuki, Yu Takahashi, Hiroyuki Toh, Yu Izawa, Hiroyuki Kawamori, Hiromasa Otake, Sei Fujiwara, Yoshiaki Watanabe, Atsushi Kono, Ken-ichi Hirata
Summary: The study found that pre-procedural aortic atheroma volume (AAV) is significantly associated with mortality after transcatheter aortic valve replacement (TAVR), with abdominal segment AAV having independent predictive value for all-cause mortality.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Toshihiro Nakamura, Kunihiko Kiuchi, Koji Fukuzawa, Mitsuru Takami, Yoshiaki Watanabe, Yu Izawa, Makoto Takemoto, Jun Sakai, Atsusuke Yatomi, Yusuke Sonoda, Hiroyuki Takahara, Kazutaka Nakasone, Kyoko Yamamoto, Yuya Suzuki, Ken-ichi Tani, Noriyuki Negi, Atsushi Kono, Takashi Ashihara, Ken-ichi Hirata
Summary: The impact of atrial wall thickness (AWT) in normal/mild late-gadolinium enhancement (LGE) areas on atrial fibrillation (AF) drivers was evaluated in this study. It was found that areas with thicker AWT in normal/mild LGE areas were more likely to have AF drivers.
JOURNAL OF ARRHYTHMIA
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Masataka Suzuki, Yu Izawa, Hiroshi Fujita, Keisuke Miwa, Yu Takahashi, Hiroyuki Toh, Takayoshi Toba, Sei Fujiwara, Hiromi Hashimura, Atsushi K. Kono, Ken-ichi Hirata
Summary: This study aimed to evaluate the association between the washout of Tc-99m-labeled tracer and FDG PET findings in patients with cardiac sarcoidosis (CS). The results showed that the washout score was significantly higher in the CS group compared to the non-CS group, and a washout score of >= 2 had the best accuracy for detecting CS and FDG positivity.
ANNALS OF NUCLEAR MEDICINE
(2022)
Article
Biology
Keisuke Miwa, Yu Taniguchi, Hiroyuki Fujii, Yoichiro Matsuoka, Hiroyuki Onishi, Kenichi Yanaka, Yu Izawa, Yasunori Tsuboi, Atsushi Kono, Noriaki Emoto, Kenichi Hirata
Summary: Poor subpleural perfusion (PSP) on dual-energy computed tomography (DE-CT) is a specific imaging finding in chronic thromboembolic pulmonary hypertension (CTEPH) and suggests a different mechanism of microvasculopathy from that in pulmonary arterial hypertension (PAH).
Meeting Abstract
Radiology, Nuclear Medicine & Medical Imaging
Junko Inukai, Munenobu Nogami, Feibi Zeng, Atsushi Kono, Kazuhiro Kubo, Takamichi Murakami
JOURNAL OF NUCLEAR MEDICINE
(2021)
Meeting Abstract
Radiology, Nuclear Medicine & Medical Imaging
Munenobu Nogami, Hidetoshi Matsuo, Mizuho Nishio, Feibi Zeng, Junko Inukai, Takako Kurimoto, Kazuhiro Kubo, Atsushi Kono, Takamichi Murakami
JOURNAL OF NUCLEAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Hiroyuki Onishi, Yu Taniguchi, Yoichiro Matsuoka, Kenichi Yanaka, Yu Izawa, Yasunori Tsuboi, Shumpei Mori, Atsushi Kono, Kazuhiko Nakayama, Noriaki Emoto, Ken-ichi Hirata
Summary: The presence of microvasculopathy in patients with chronic thromboembolic pulmonary hypertension has been suggested to impact pathophysiology. Evaluation of patients showed that those in the poorly perfused group had higher pulmonary vascular resistance and lower lung perfusion of blood volume score, indicating potential severe hemodynamics due to microvasculopathy.
PULMONARY CIRCULATION
(2021)
Article
Endocrinology & Metabolism
Hideki Fujii, Keiji Kono, Kentaro Watanabe, Shunsuke Goto, Tatsuya Nishii, Atsushi Kono, Shinichi Nishi
Summary: This study found that aortic calcification was more severe and more frequent in the abdominal aorta in ESKD patients with DM compared to those without DM. The 3D visualization and quantification method used in this study allowed for precise evaluation of the volume and distribution of aortic calcification.
JOURNAL OF BONE AND MINERAL METABOLISM
(2021)
Article
Cardiac & Cardiovascular Systems
Yu Takahashi, Takayoshi Toba, Hiromasa Otake, Yusuke Fukuyama, Shinsuke Nakano, Yoichiro Matsuoka, Kosuke Tanimura, Yu Izawa, Hiroyuki Kawamori, Atsushi K. Kono, Sei Fujiwara, Ken-ichi Hirata
Summary: The study examined the feasibility of pre-procedural morphological assessment of coronary artery calcification in severely calcified lesions using ECG-gated non-contrast CT. Results showed a strong correlation between CT- and OCT-derived MCA, indicating that CT could be a useful tool in obtaining detailed information about severe coronary artery calcification prior to PCI. Sensitivity and specificity of CT in identifying MCA > 270 degrees and NC were also evaluated, highlighting the potential benefits of ECG-gated non-contrast coronary CT in clinical practice.
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2021)
