Results 61 to 70 of about 462,679 (319)

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology

Virchows Archiv, 2017
Although sudden cardiac death (SCD) is one of the most important modes of death in Western countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias
C. Basso, B. Aguilera, J. Banner, S. Cohle, G. d’Amati, R. Gouveia, C. Gioia, A. Fabre, P. Gallagher, O. Leone, J. Lucena, L. Mitrofanova, P. Molina, S. Parsons, S. Rizzo, M. Sheppard, M. P. S. Mier, S. Kim Suvarna, G. Thiene, A. Wal, A. Vink, K. Michaud, O. Pathology   +22 more
semanticscholar   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Mitral Valve Prolapse and Sudden Cardiac Death: A Systematic Review

Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease, 2018
Background The relationship between mitral valve prolapse (MVP) and sudden cardiac death (SCD) remains controversial. In this systematic review, we evaluate the relationship between isolated MVP and SCD to better define a potential high‐risk subtype.
H. Han, F. Ha, A. Teh, P. Calafiore, E. Jones, J. Johns, A. Koshy, D. O'Donnell, D. Hare, O. Farouque, Han S. Lim   +10 more
semanticscholar   +1 more source

Genetics of Sudden Cardiac Death [PDF]

Circulation Research, 2015
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important cause of mortality in the general population. Genetic studies conducted during the past 20 years have markedly illuminated the genetic basis of the inherited cardiac disorders associated with sudden cardiac death.
Bezzina Connie R, Lahrouchi Najim, PRIORI, SILVIA GIULIANA   +2 more
openaire   +5 more sources

Role of Implantable Cardioverter Defibrillators in the Treatment of Hypertrophic Cardiomyopathy [PDF]

, 2005
Hypertrophic cardiomyopathy (HCM) is an important cardiovascular disease with sudden cardiac death as the most devastating presentation. Implantable cardioverter defibrillators (ICD) are the optimal therapy for prevention of sudden death from ventricular
Francis, Johnson, Ghosh, Joydeep, Maron, Barry J.   +2 more
core   +1 more source

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

American 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, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

CURRENT ASPECTS OF THE CONCEPT, ETIOLOGY, PATHOGENESIS AND PREVENTION OF SUDDEN CARDIAC DEATH

Наука и инновации в медицине, 2017
Aim - to highlight current aspects of the concept, etiology, pathogenesis and prevention of sudden cardiac death. Discussion. Sudden cardiac death in a wide sense is known as non-violent death due to cardiac pathology, with the rapid development of ...
OV V Fatenkov, OA A Rubanenko, SS S Yashin, DB B Avezova   +3 more
doaj   +1 more source

Association of Silent Myocardial Infarction and Sudden Cardiac Death.

JAMA cardiology, 2019
Importance Myocardial infarction in the absence of major or unrecognized symptoms are characterized as silent (SMI). The prevalence of SMI among individuals who experience sudden cardiac death (SCD), with or without concomitant electrocardiographic (ECG)
J. Vähätalo, H. Huikuri, L. Holmstrom, T. Kenttä, M. Haukilahti, L. Pakanen, L. Pakanen, K. Kaikkonen, J. Tikkanen, J. Perkiömäki, R. Myerburg, M. Junttila   +11 more
semanticscholar   +1 more source

Sudden cardiac death: Prevention and treatment [PDF]

, 2003
Sudden cardiac death remains a major health issue in western countries as well as in Hong Kong. Despite increasing knowledge of the mechanisms and risk factors of sudden cardiac death, methods for identifying high-risk candidates and predicting the ...
Kwok, KM, Lau, CP, Lee, KLF, Tse, HF
core