Results 91 to 100 of about 264,693 (308)

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Commando procedure in a radiated chestCentral Message

JTCVS Techniques, 2022
Jennifer L. Perri, MD, MBA, Douglas R. Johnston, MD   +1 more
doaj   +1 more source

Risk factors for paravalvular leak after transcatheter aortic valve replacement [PDF]

, 2019
Objective. To assess risk factors for paravalvular leak (PVL) after transcatheter aortic valve implantation (TAVI) in a large single-center cohort, including measurement of aortic valve calcification using a reproducible method. Methods.
Pollari, Francesco
core  

Nanopatterned acellular valve conduits drive the commitment of blood-derived multipotent cells [PDF]

, 2016
Considerable progress has been made in recent years toward elucidating the correlation among nanoscale topography, mechanical properties, and biological behavior of cardiac valve substitutes.
Aguiari, Paola, Barbon, Silvia, Bertalot, Thomas, Conconi, MARIA TERESA, DI LIDDO, Rosa, Gandaglia, Alessandro, Gerosa, Gino, Iop, Laura, Mandoli, Amit, Parnigotto, PIER PAOLO, Schrenk, Sandra, Tasso, Alessia   +11 more
core   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Aortic Valve Sclerosis and Degenerative Valve Disease in a Nigerian Population: An Echocardiographic Study

Global Heart
Background: The burden of degenerative valve disease is increasing globally because of population aging. However, data on this condition is scarce in Nigeria and across Africa.
Olugbenga O. Abiodun, Ibrahim L. Salau, Tina Anya   +2 more
doaj   +1 more source

Hemangioma of the Atherosclerotic Changed Aortic Valve

Case Reports in Cardiology, 2019
The incidence of heart valve hemangioma is very low and is mostly observed in the mitral and tricuspid valve. In 2006, two cases of aortic valve hemangioma were reported for the first time, including one with calcifying aortic valve stenosis.
A. van Broekhoven, P. A. J. Krijnen, H. W. M. Niessen, A. B. A. Vonk   +3 more
doaj   +1 more source

Age, Sex, and Valve Phenotype Differences in Fibro‐Calcific Remodeling of Calcified Aortic Valve

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background In calcific aortic valve disease on tricuspid aortic valves (TAVs), men have higher aortic valve calcification and less fibrosis than women. However, little is known in bicuspid aortic valves (BAV).
Martine Voisine, Maxime Hervault, Mylène Shen, Anne‐Julie Boilard, Benoît Filion, Mickael Rosa, Yohan Bossé, Patrick Mathieu, Nancy Côté, Marie‐Annick Clavel   +9 more
doaj   +1 more source