Results 31 to 40 of about 36,500 (251)

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

Prenatal Diagnosis and Successful Palliation of Absent Aortic Valve with Hypoplastic Left Heart Syndrome: A Case Report and Review of Literature

American Journal of Perinatology Reports, 2019
Introduction Congenital absence of the aortic valve leaflets is a rare association with hypoplastic left heart syndrome (HLHS). Case A 37-year-old pregnant woman was referred for fetal evaluation of possible HLHS at 22 weeks of gestation ...
Amna Qasim, Chelsea B. Johnson, Muhammad A. Aly, Ashraf M. Aly   +3 more
doaj   +1 more source

Early post-operative benefits of a pulmonary valve-sparing strategy during Fallot repair

International Journal of Cardiology Congenital Heart Disease, 2022
Background: Patients undergoing complete repair of tetralogy of Fallot generally have an excellent prognosis. Unfortunately, pulmonary valve reconstruction with a transannular patch is generally required.
Taher Touré, François Roubertie, Tiphaine Bridier, Hélène Foulgoc, Jean-Benoît Thambo, Alexandre Ouattara, Nadir Tafer   +6 more
doaj   +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

First hybrid implantations of novel Salus-Valves in patients with severe pulmonary regurgitation: A case series

Frontiers in Cardiovascular Medicine, 2022
With the increasing age of patients after right ventricular outflow tract (RVOT) reconstruction, progressive pulmonary valve (PV) dysfunction can result in different degrees of right heart insufficiency, and PV replacement is frequently needed during ...
Zehua Shao, Shubo Song, Yu Han, Weijie Liang, Taibing Fan   +4 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Preoperative Noninvasive Mapping Allowed Targeted Concomitant Surgical Ablation and Revealed COVID-19 Infection

Case Reports in Cardiology, 2021
In March 2020, a 64-year-old female with mitral valve insufficiency and persistent atrial fibrillation underwent preoperative noninvasive mapping for developing an ablation strategy.
Constantin Mork, Luca Koechlin, Matthias Streif, Alexa Hollinger, Martin Siegemund, Friedrich Eckstein, David Santer   +6 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Clinical Case of Surgical Correction of Infective Endocarditis of the Pulmonary Valve Associated with Infundibular Stenosis in an Adult

Український журнал серцево-судинної хірургії
Background. Congenital heart defects, if not surgically corrected in a timely manner, are a predictor for the development of infective endocarditis, with the likelihood of its occurrence increasing with patient age. Aim.
Roman Yo. Lekan, Volodymyr St. Moroz, Taras Vo. Romaniuk, Ivan Ro. Lekan, Lyudmyla Va. Balaban   +4 more
doaj   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source