Article
Biology
Pamela Franco, Julio Sotelo, Andrea Guala, Lydia Dux-Santoy, Arturo Evangelista, Jose Rodriguez-Palomares, Domingo Mery, Rodrigo Salas, Sergio Uribe
Summary: This research focuses on analyzing hemodynamic changes in BAV patients and accurately classifying healthy volunteers and patients using machine learning, identifying five potential hemodynamic biomarkers associated with the disease.
COMPUTERS IN BIOLOGY AND MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Flavien Vincent, Julien Ternacle, Tom Denimal, Mylene Shen, Bjorn Redfors, Cedric Delhaye, Matheus Simonato, Nicolas Debry, Basile Verdier, Bahira Shahim, Thibault Pamart, Hugues Spillemaeker, Guillaume Schurtz, Francois Pontana, Vinod H. Thourani, Philippe Pibarot, Eric Van Belle
Summary: TAVR is rapidly expanding its indications, but faces technical challenges and knowledge gaps when dealing with patients with bicuspid aortic valve (BAV). Physicians need to understand the BAV anatomy and TAVR procedure planning comprehensively to guide treatment decisions.
Article
Computer Science, Interdisciplinary Applications
Qianwen Hou, Keyi Tao, Tianming Du, Hongge Wei, Honghui Zhang, Shiliang Chen, Youlian Pan, Aike Qiao
Summary: This study compared the aortic blood flow differences during systole between tricuspid aortic valve (TAV) and different phenotypes of bicuspid aortic valve (BAV) using numerical simulation. The results showed that BAV had a significantly reduced maximum opening area, leading to alterations in aortic hemodynamics compared with TAV. Additionally, different phenotypes of BAV determined the direction of blood flow jet and changed the expression of dilation.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2022)
Review
Physiology
Jing Wang, Wenhui Deng, Qing Lv, Yuman Li, Tianshu Liu, Mingxing Xie
Summary: Bicuspid aortic valve is the most common congenital cardiac abnormality, and aortic dilatation associated with it poses a risk of adverse aortic events for patients. Elective surgical intervention is currently the main method of treatment, but the limited predictive value of aortic diameter remains a challenge.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Li-Tan Yang, Zi Ye, Muhammad Wajih Ullah, Joseph J. Maleszewski, Christopher G. Scott, Ratnasari Padang, Sorin Pislaru, Vuyisile T. Nkomo, Sunil Mankad, Patricia A. Pellikka, Jae K. Oh, Veronique L. Roger, Maurice Enriquez-Sarano, Hector Michelena
Summary: This study aimed to assess lifetime morbidity and long-term survival in patients with bicuspid aortic valve (BAV) in the community. The results showed that BAV patients have a high lifetime morbidity burden, with a high incidence of complications such as aortic stenosis or regurgitation, aortic surgery, aortic aneurysm, infective endocarditis, and aortic dissection. Compared to patients with typical valvulo-aortopathy, patients with complex valvulo-aortopathy have lower survival rates.
EUROPEAN HEART JOURNAL
(2023)
Review
Biology
Chloe Bernard, Marie Catherine Morgant, David Guillier, Nicolas Cheynel, Olivier Bouchot
Summary: Bicuspid aortic valve (BAV) disease is the most prevalent congenital heart disease worldwide, but knowledge about its subtypes origin, development, and evolution is still limited. This review aimed to describe the complex pathology of BAV and improve the management of patients. It also highlighted the impact of pathological development and genetic factors on the disease.
Article
Cardiac & Cardiovascular Systems
John K. Forrest, Basel Ramlawi, G. Michael Deeb, Firas Zahr, Howard K. Song, Neal S. Kleiman, Stanley J. Chetcuti, Hector I. Michelena, Abeel A. Mangi, Jeffrey A. Skiles, Jian Huang, Jeffrey J. Popma, Michael J. Reardon
Summary: The study aimed to evaluate the safety, efficacy, and 30-day outcomes of transcatheter aortic valve replacement in low-risk patients with bicuspid aortic valve stenosis. The results showed favorable 30-day outcomes, with low rates of death and stroke, and a high device success rate.
Article
Cardiac & Cardiovascular Systems
Shinjeong Song, Jiwon Seo, Iksung Cho, Geu-Ru Hong, Jong-Won Ha, Chi Young Shim
Summary: For patients with non-dysfunctional BAV, the initial valve function and degree of aorta dilation may be important factors influencing disease progression and outcomes. Patients without dysfunction or aorta dilation are likely to maintain good structure and function for 6 years.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Biotechnology & Applied Microbiology
Patrick Geeraert, Fatemehsadat Jamalidinan, Fiona Burns, Kelly Jarvis, Michael S. Bristow, Carmen Lydell, Silvia S. Hidalgo Tobon, Benito de Celis Alonso, Paul W. M. Fedak, James A. White, Julio Garcia
Summary: This study analyzed BAV disease using 4D-flow MRI and discovered novel voxel-by-voxel markers associated with aortic dilation and surgical treatment.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Daniel G. W. Cave, Hannah Panayiotou, Malenka M. Bissell
Summary: 4D flow MRI provides new tools for the assessment and prediction of pathological aortic dilatation in patients with bicuspid aortic valve (BAV) disease, and can help tailor interventions based on flow patterns seen post-bioprosthetic valve implantation. Additionally, it has the potential to support the development of artificial valve prostheses and aortic conduits with more physiological flow patterns.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Yas Sanaiha, Joseph E. Hadaya, Zachary Tran, Richard J. Shemin, Peyman Benharash
Summary: This study compared the use and outcomes of transcatheter aortic valve replacement (TAVR) and surgical aortic valve replacement (SAVR) in patients with bicuspid aortic valve (BAV) disease. The analysis showed similar in-hospital mortality and morbidity for TAVR and SAVR patients in the moderate-risk era. However, TAVR patients had higher rates of 90-day readmission, indicating the need to consider the implications of reintervention.
ANNALS OF THORACIC SURGERY
(2023)
Article
Biochemistry & Molecular Biology
Sarah J. Barnard, Josephina Haunschild, Linda Heiser, Maja T. Dieterlen, Kristin Klaeske, Michael A. Borger, Christian D. Etz
Summary: This study analyzed the tissue of patients with bicuspid and tricuspid aortic valve, finding increased expression of RAGE, AGE, and S100A6 in bicuspid patients, which may promote apoptosis through upregulation of caspase-3 activity. Additionally, increased expression of the 48 kDa fragment of vimentin was detected in BAV patients, while increased expression of Bcl-2 was observed in TAV patients, suggesting better protection against apoptosis. Autophagy-related proteins p62 and ERK1/2 were increased in BAV patients, indicating a higher likelihood of apoptotic cell death in bicuspid tissue, leading to changes in the aortic wall and aortopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Lola Gutierrez, Mauro Boiago, Chiara De Biase, Omar Oliva, Pietro Laforgia, Souheib Feliachi, Alessandro Beneduce, Nicolas Dumonteil, Didier Tchetche
Summary: Bicuspid aortic valve disease is the most common congenital heart disease, associated with unique morphological features and lack of consensus in sizing measurement. Multi-slice computed tomography plays a crucial role in TAVI procedure planning, and advancements in devices and procedure planning have improved clinical outcomes.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Dov Levine, Parth Patel, Yanling Zhao, Patra Childress, Megan Chung, Bradley G. Leshnower, Paul Kurlansky, Craig R. Smith, Edward P. Chen, Hiroo Takayama
Summary: Long-term outcomes of David V valve-sparing aortic root replacement (VSARR) in patients with bicuspid aortic valve (BAV) were compared to those with tricuspid aortic valve (TAV). The survival and reoperation rates after VSARR were similar between BAV and TAV patients, but a higher incidence of reoperation was observed in BAV patients in the late years postoperatively.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2023)
Review
Cardiac & Cardiovascular Systems
Ali Fatehi Hassanabad, Melissa A. King, Elena Di Martino, Paul W. M. Fedak, Julio Garcia
Summary: This article presents the latest research on the biomechanics of bicuspid aortic valve (BAV), including definitions and classifications, mechanisms driving valve disease, and the impact of abnormal flow patterns on aortic dilatation. The role of cardiac magnetic resonance imaging in assessing and managing patients with BAV and bicuspid aortopathy is also discussed.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Alexis Theron, Anissa Touil, Noemie Resseguier, Gwenaelle Collod-Beroud, Giulia Norscini, Anne-Sophie Simoni, Gaelle Odelin, Gilbert Habib, Frederic Collart, Stephane Zaffran, Jean-Francois Avierinos
Summary: The study found that valve dysfunction, particularly aortic stenosis and aortic regurgitation, are common in patients with BAV. Age, gender, and valve structure are important factors influencing valve dysfunction.
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2022)
Article
Genetics & Heredity
Hager Jaouadi, Hilla Gerard, Alexis Theron, Gwenaelle Collod-Beroud, Frederic Collart, Jean-Francois Avierinos, Stephane Zaffran
Summary: In this study, we report three siblings with Bicuspid aortic valve (BAV) and clinical differences. Genetic investigation revealed two non-synonymous variants in the ROBO1 and GATA5 genes, which are associated with BAV and ascending aortic aneurysm. Our findings suggest the involvement of the ROBO1 gene in BAV and the GATA5: p.(Gln3Arg) variant in ascending aortic aneurysm. We also confirm the incomplete penetrance and complex inheritance pattern of BAV within families.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Cardiac & Cardiovascular Systems
Marine Bouchat, Edeline Pelce, Alizee Porto, Rita Badaoui, Noemie Resseguier, Floriane Soler, Soumia Mammari, Vlad Gariboldi, Frederic Collart, Alexis Theron
Summary: This observational study evaluated the incidence, prognosis, and predictive factors of new onset of persistent left bundle branch block (NOP-LBBB) after rapid-deployment aortic valve replacement (RD-AVR). The results showed that NOP-LBBB occurred in 21.2% of patients after discharge and was associated with age, INTUITY valve diameter, and INTUITY Elite implantation. However, it did not significantly affect overall mortality or hospitalization for congestive heart failure.
ANNALS OF THORACIC SURGERY
(2023)
Article
Cell Biology
Laura Rolland, Alenca Harrington, Adele Faucherre, Jourdano Mancilla Abaroa, Girisaran Gangatharan, Laurent Gamba, Dany Severac, Marine Pratlong, Thomas Moore-Morris, Chris Jopling
Summary: Understanding how certain animals regenerate their hearts provides insights into potential regeneration in humans. Cardiac regeneration is influenced by interstitial cells, which were studied through RNA sequencing in zebrafish hearts. Using various techniques, the role of specific cell types in regeneration was investigated, revealing important processes within interstitial cell populations. This research increases understanding of how cardiac regeneration could be induced in humans.
JOURNAL OF MOLECULAR CELL BIOLOGY
(2023)
Article
Oncology
Hager Jaouadi, Alexis Theron, Giulia Norscini, Jean-Francois Avierinos, Stephane Zaffran
Summary: The present study investigated a female patient with polymalformative syndrome, including left arm agenesis, bicornuate uterus and bicuspid aortic valve. Whole exome sequencing identified two heterozygous missense variants, one in the HOXA13 gene [p.(Tyr290Ser)] and the other in the HOXA9 gene [p.(Ala102Pro)]. This is the first association of HOXA9/HOXA13 point mutations with a syndromic case. The study highlights the importance of different HOXA variants in severe clinical presentations of vertebral anomalies, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities/hand-foot-genital syndrome.
MOLECULAR MEDICINE REPORTS
(2023)
Article
Cell Biology
Etienne Lelievre, Charlotte Bureau, Yann Bordat, Maxence Fretaud, Christelle Langevin, Chris Jopling, Karima Kissa
Summary: In this study, the zebrafish endoglin locus was characterized and it was found that deficiency of endoglin leads to heart failure and hypochromic anemia. This study also establishes the zebrafish as a valuable model for studying hereditary hemorrhagic telangiectasia (HHT).
DISEASE MODELS & MECHANISMS
(2023)
Review
Biochemistry & Molecular Biology
Stephane Zaffran, Lilia Kraoua, Hager Jaouadi
Summary: This review discusses the genetic etiology of cardiac diseases related to calcium mishandling, focusing on catecholaminergic polymorphic ventricular tachycardia (CPVT) as a cardiac channelopathy and hypertrophic cardiomyopathy (HCM) as a primary cardiomyopathy. It emphasizes that calcium-handling perturbations are the common pathophysiological mechanism despite the genetic heterogeneity of cardiac defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Laura Rolland, Angelo Giovanni Torrente, Emmanuel Bourinet, Dounia Maskini, Aurelien Drouard, Philippe Chevalier, Chris Jopling, Adele Faucherre
Summary: The cardiovascular system generates dynamic mechanical forces due to its rhythmic nature. The heart, as the center of this system, detects and adjusts its performance according to these changes. Mechanoelectric feedback rapidly detects subtle changes in the mechanical environment and converts these signals into electrical responses, affecting various cardiac parameters. However, pathological conditions can disrupt this complex mechansensory system and lead to potentially life-threatening cardiac arrhythmias. Mechanosensitive ion channels, particularly PIEZO1, play a crucial role in mechanoelectric feedback, and their dysfunction may be associated with heritable cardiac arrhythmias in humans.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Hager Jaouadi, Chris Jopling, Fanny Bajolle, Alexis Theron, Adele Faucherre, Hilla Gerard, Sarab Al Dybiat, Caroline Ovaert, Damien Bonnet, Jean-Francois Avierinos, Stephane Zaffran
Summary: This study analyzed genetic variants in a cohort of BAV patients and found that only 10% of adult BAV patients had missense variants in ROBO and SLIT genes, while 61% of pediatric cases carried variants in these genes. Family segregation analysis showed that the ROBO4 gene variants followed an autosomal recessive pattern of inheritance. These findings suggest that the ROBO4 gene is not only implicated in BAV, but also in ToF.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Letter
Cardiac & Cardiovascular Systems
Alexandre Janin, Evan Gouy, Audrey Putoux, Thomas Perouse-de-Monclos, Philippe Chevalier, Adele Faucherre, Jourdano Mancilla Abaroa, Chris Jopling, Sophie Collardeau Frachon, Jelena Radojevic, Salima El Chehadeh, Gilles Millat
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Laura Rolland, Chris Jopling
Summary: Since the discovery of cardiac regeneration, studies have revealed the involvement of various cell types, signaling pathways, and mechanisms in this process. The review aims to highlight the essential processes for cardiac regeneration.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Elisabeth Petolat, Alexis Theron, Noemie Resseguier, Cyprien Fabre, Giulia Norscini, Rita Badaoui, Gilbert Habib, Frederic Collart, Stephane Zaffran, Alizee Porto, Jean-Francois Avierinos
Summary: This study aimed to evaluate the prognostic impact of preoperative forward flow indices on the occurrence of post-operative left ventricular systolic dysfunction. The results showed that LVOTTVI was the strongest independent predictor of post-operative LV dysfunction and could serve as an earlier marker than traditional echo parameters to optimize the timing of surgery.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Multidisciplinary Sciences
Gaelle Odelin, Adele Faucherre, Damien Marchese, Amelie Pinard, Hager Jaouadi, Solena Le Scouarnec, Emmanuelle FranceGenRef Consortium, Jean-Francois Deleuze, Emmanuelle Genin, Pierre Lindenbaum, Richard Redon, Jean-Jacques Schott, Raphael Chiarelli, Younes Achouri, Emilie Faure, Marine Herbane, Alexis Theron, Jean-Francois Avierinos, Chris Jopling, Gwenaelle Collod-Beroud, Rene Rezsohazy, Stephane Zaffran
Summary: The study identifies variants in the poly-histidine repeat motif of the HOXA1 gene that are associated with Bicuspid Aortic Valve (BAV), and validates the disruption of these variants in a mouse model. This research is significant in exploring the genetic mechanisms underlying BAV.
NATURE COMMUNICATIONS
(2023)
Article
Cardiac & Cardiovascular Systems
Bart Meuris, Jean-Christian Roussel, Michael A. Borger, Matthias Siepe, Pierluigi Stefano, Guenther Laufer, Thierry Langanay, Alexis Theron, Martin Grabenwoeger, Konrad Binder, Philippe Demers, Renzo Pessotto, Wouter van Leeuwen, Thierry Bourguignon, Sergio Canovas, Giovanni Mariscalco, Enrico Coscioni, Francois Dagenais, Olaf Wendler, Gianluca Polvani, Matthias Eden, Beate Botta, Peter Bramlage, Ruggero De Paulis
Summary: This study reports the 1-year safety and clinical outcomes of patients under 60 years old who underwent bioprosthetic surgical aortic valve intervention. The results showed good safety, excellent haemodynamic performance, and improved quality of life after the surgery.
INTERDISCIPLINARY CARDIOVASCULAR AND THORACIC SURGERY
(2023)
Article
Biochemistry & Molecular Biology
Hager Jaouadi, Alexis Theron, Jerome Hourdain, Helene Martel, Karine Nguyen, Raja Habachi, Jean-Claude Deharo, Frederic Collart, Jean-Francois Avierinos, Stephane Zaffran
Summary: This study reveals the potential mechanism of electric instability leading to ventricular arrhythmias in familial mitral valve prolapse (MVP) cases with syncope and/or sudden cardiac death (SCD) by identifying SCN5A mutations through genetic and clinical investigation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)