Results 231 to 240 of about 423,998 (313)

[Heart valve diseases].

Der Internist, 2016
openaire   +2 more sources

Antibody and Cellular Immune Responses in Old α1,3-Galactosyltransferase-Knockout Mice Implanted with Bioprosthetic Heart Valve Tissues. [PDF]

Bioengineering (Basel)
Casós K, Llatjós R, Blasco-Lucas A, Kuguel SG, Sbraga F, Galli C, Padler-Karavani V, Le Tourneau T, Vadori M, Roussel JC, Bottio T, Cozzi E, Soulillou JP, Galiñanes M, Máñez R, Costa C.   +15 more
europepmc   +1 more source

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

Advancements and Perspectives in the Bioprosthetic Heart Valve: A Comprehensive Review on Biomaterial Processing and Emerging Polymeric Materials. [PDF]

J Am Heart Assoc
Li H, Li S, Lei Y, Sun M, Wu C, Wang X, Xiong S, Wang Q, Kang S, Chen S, Shang X.   +10 more
europepmc   +1 more source

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

Frame Overlap Technique: Improving Coronary Ostial Visualization in Latest Generation Supra-Annular Self-Expandable Transcatheter Heart Valve. [PDF]

JACC Case Rep
Shimura T, Yamamoto M, Matsuo H.
europepmc   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Stabilization of Embolized Transcatheter Heart Valve With a Left Subclavian Artery Stent. [PDF]

JACC Case Rep
Olorunda OT, Dhillon A.
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Management of Echocardiography Requests for the Detection and Follow-Up of Heart Valve Disease: A Consensus Statement From the British Heart Valve Society. [PDF]

Clin Cardiol
Chambers J, Shah BN, Garbi M, Campbell B, Vassiliou VS, Schlosshan D.   +5 more
europepmc   +1 more source