Results 11 to 20 of about 25,347 (189)

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto   +5 more
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

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

open access: yesAmerican 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   +9 more
wiley   +1 more source

State-of-the-Art Atrial Septal Defect Closure Devices for Congenital Heart [PDF]

open access: yesInterventional Cardiology Clinics, 2019
This article describes current devices and indications for transcatheter device closure of atrial septal defect (TC-ASD) and patent foramen ovale in children and young adults. TC-ASD has a proven record of efficacy and safety, but device erosion raises questions about the relative safety of TC-ASD versus operative open heart surgical ASD closure.
Daniel S. Levi, Michael L. O'Byrne
openaire   +3 more sources

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava   +5 more
wiley   +1 more source

Long‐Term Survival After Post‐Myocardial Infarction Ventricular Septal Defect (VSD) Closure, Multiple Percutaneous Coronary Interventions and Edge‐to‐Edge Repair

open access: yesCatheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT This reports a case of a female aged 65 who presented in cardiogenic shock secondary to an inferior ST‐elevation myocardial infarction and was diagnosed with a post‐infarction ventricular septal defect (VSD) and was also found to have severe mitral valve regurgitation. She was not surgically operable, so underwent percutaneous VSD repair. Over
Heidi Turner   +3 more
wiley   +1 more source

Phenotype characterization of heart failure with preserved ejection fraction in medical device and surgical trials

open access: yesESC Heart Failure, EarlyView.
This systematic review identified 24 clinical trials of medical device and surgical interventions for HFpEF, with 16 demonstrating at least safety and feasibility, but little evidence of long‐term benefit. Phenotype‐based responses suggest that certain interventions may benefit specific HFpEF subgroups, yet most trials suffered from heterogeneous ...
Kurdo Araz   +5 more
wiley   +1 more source

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

open access: yesJournal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes   +14 more
wiley   +1 more source

Relevance of residual tricuspid regurgitation for right ventricular reverse remodelling after tricuspid valve intervention in patients with severe tricuspid regurgitation and right‐sided heart failure

open access: yesEuropean Journal of Heart Failure, EarlyView.
Right ventricular reverse remodelling after transcatheter tricuspid valve intervention (TTVI). Optimal tricuspid regurgitation (TR) reduction is critical for right ventricular reverse remodelling. CMR, cardiac magnetic resonance; echo, echocardiography; RV EDV, right ventricular end‐diastolic volume. Abstract Aims Right ventricular reverse remodelling (
Ludwig T. Weckbach   +16 more
wiley   +1 more source

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