Results 31 to 40 of about 74,025 (258)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Left ventricular apical aneurysm resection and mitral valve replacement for apical hypertrophic cardiomyopathy

Clinical Case Reports, 2023
Key clinical message Left ventricular apical hypertrophic cardiomyopathy with an apical aneurysm carries a risk of thrombosis and can also lead to atrial fibrillation and functional mitral regurgitation.
Hironobu Nishiori, Hiroyuki Watanabe, Yuichi Hirano, Masayoshi Otsu   +3 more
doaj   +1 more source

Potential Prognostic Relevance of Left-Ventricular Global Longitudinal Strain and of the Summation of the Mitral and Tricuspid Regurgitation Volume in Patients with Non-Ischemic Dilated Cardiomyopathy

Journal of Cardiovascular Development and Disease, 2023
Background: The aim of this pilot study was to determine the potential prognostic relevance of novel multidirectional myocardial and volumetric echocardiographic parameters in patients with non-ischemic dilated cardiomyopathy (NIDCM).
Karolina Mėlinytė-Ankudavičė, Eglė Ereminienė, Vaida Mizarienė, Gintarė Šakalytė, Jurgita Plisienė, Renaldas Jurkevičius   +5 more
doaj   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Mitral Anterior Leaflet Perforation Due to Jet Flow in Aortic Valve Insufficiency

Kardiyovasküler Tıp E Dergisi/E Journal of Cardiovascular Medicine
Mitral valve disease is one of the most common pathologies of heart valve diseases. Mitral regurgitation may develop due to pathologies in the valve apparatus (primary regurgitation) or due to pathologies related to the atrium and/or ventricle (secondary
Mehmet Işık, Muhammet B Cavlak, Serkan Yıldırım, Yüksel Dereli   +3 more
doaj   +1 more source

Segmentation of jet area to quantity the severity of mitral regurgitation by color Doppler echocardiography

International Journal of Noncommunicable Diseases, 2018
Mitral regurgitation (MR) is a disorder of mitral valve and it is one of the most common causes of cardiovascular morbidity and mortality. Mitral valve allows blood to flow from left atrium, to the left ventricle and Mitral Valve regurgitation results in
N Chidambaram, G N Balaji, T S Subashini
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

A Meta‐Analysis and Simplified Nomenclature for Diagonal Coronary Artery and Ramus Intermedius Across Adult and Pediatric Hearts

Clinical Anatomy, EarlyView.
ABSTRACT Anatomical descriptions of left‐sided oblique coronary branches remain inconsistent, hindering imaging interpretation and surgical planning. To quantify the prevalence, branching patterns and morphometry of the ramus intermedius (RI) and diagonal branches, and propose a unified nomenclature.
Yuqian Dai, Sabrina Constantini, Michael J. Montalbano, Marios Loukas   +3 more
wiley   +1 more source

Evaluation of Echocardiography Results after Severe Mitral Valve Regurgitation Repair Surgery

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2018
BACKGROUND AND OBJECTIVE: Severe mitral valve regurgitation, which occurs primarily or secondary to various cardiovascular diseases, has undergone surgery and valve replacement and artificial valve insertion from several years ago.
MT Salehi Omran, HR Vafaei, H Salehi Omran   +2 more
doaj