Molecular genetics of sudden cardiac death

Forensic Science International : Synergy
María Sol Rodríguez-CalvoA Carracedo

Abstract

Sudden cardiac death (SCD) is one of the most common causes of death. An important number of sudden deaths, especially in the young, are due to genetic heart disorders, both with structural and arrhythmogenic abnormalities. In recent years, significant advances have been made in understanding the genetic basis of SCD. Identification of the genetic causes of sudden death is important because close relatives are also at potential risk of having a fatal cardiac condition. A comprehensive post-mortem investigation is vital to determine the cause and manner of death and provides the opportunity to assess the potential risk to the family after appropriate genetic counselling. In this paper, we present an update of the different genetic causes of sudden death, emphasizing their importance for the forensic pathologist due to his relevant role in the diagnosis and prevention of SCD.

References

Jan 21, 1988·The New England Journal of Medicine·G ThieneN Pennelli
Oct 1, 1984·Archives of Disease in Childhood·W J McKenna, J E Deanfield
May 3, 1984·The New England Journal of Medicine·M J Davies, A Thomas
Jun 1, 1995·Histopathology·M J Davies, W J McKenna
Apr 18, 1996·The New England Journal of Medicine·R R Liberthson
Mar 1, 1997·Journal of the American College of Cardiology·J C MoolmanH Watkins
Mar 1, 1997·Journal of the American College of Cardiology·D A CovielloC E Seidman
Feb 2, 1999·Circulation·S G PrioriP J Schwartz
Aug 27, 1999·Biochemical and Biophysical Research Communications·M SatohA Kimura
Oct 8, 1999·The New England Journal of Medicine·M J AckermanW D Edwards
Feb 16, 2000·Journal of Clinical Pathology·P Vanezis, S Leadbeatter
Mar 11, 2000·Lancet·S G PrioriM Memmi
Jun 27, 2000·The American Journal of Cardiology·J S HermidaJ C Quiret
Aug 10, 2000·Circulation·S S ChughJ L Titus
Dec 29, 2000·Journal of the American College of Cardiology·P M ElliottW J McKenna
Feb 15, 2001·Cardiology·I GussakP Bjerregaard
Mar 10, 2001·Cell·M T Keating, M C Sanguinetti
May 4, 2001·Cardiovascular Research·D CorradoG Thiene
Jun 8, 2001·The American Journal of Forensic Medicine and Pathology·M J AckermanD J Driscoll
Oct 24, 2001·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·S D Cohle, B A Sampson
Jan 24, 2002·Nature·Eduardo Marbán
Jan 30, 2002·Circulation·Hideshi NiimuraChristine E Seidman

❮ Previous
Next ❯

Citations

Apr 19, 2011·International Journal of Legal Medicine·Catarina AllegueMaría Brion
Jul 20, 2011·International Journal of Legal Medicine·Jeanett EdelmannRüdiger Lessig
Jul 23, 2011·International Journal of Legal Medicine·Bo Gregers WinkelJacob Tfelt-Hansen
May 21, 2013·Forensic Science International : Synergy·Silke KaufersteinThomas Neumann
Jan 29, 2013·Journal of Chromatographic Science·Mohammad Nasir UddinIoannis N Papadoyannis
Dec 25, 2010·Srpski arhiv za celokupno lekarstvo·Vladimir ZivkovićFehim Juković
Jan 11, 2013·ISRN Cardiology·Ronald Wilders
Jun 17, 2014·Journal of Forensic and Legal Medicine·Zoltan JuhaszEva Kereszty
Jun 18, 2014·Forensic Science, Medicine, and Pathology·Mustafa Talip SenerAhmet Nezih Kok
Feb 13, 2013·Forensic Science International : Synergy·M Paz Suárez-MierM Soledad Sánchez-de-León
Dec 20, 2011·Forensic Science International : Synergy·M K LarsenJ Banner
Jan 27, 2015·Pulmonary Circulation·Marianne T NearyRoss A Breckenridge
Aug 24, 2010·Forensic Science International : Synergy·Burkhard Madea, Pekka Saukko
Aug 24, 2010·Forensic Science International : Synergy·Burkhard MadeaFrank Musshoff
Aug 14, 2010·Forensic Science International : Synergy·M BrionA Carracedo
Oct 12, 2010·Pathology, Research and Practice·Kleio Fragkouli, Theodore Vougiouklakis
Jul 2, 2010·Forensic Science International : Synergy·Cornelius Courts, Burkhard Madea
Apr 13, 2010·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Cristina BassoGaetano Thiene
Nov 26, 2009·Forensic Science International : Synergy·R B Dettmeyer, R Kandolf
Aug 12, 2010·Fundamental & Clinical Pharmacology·Laura Ferrero-MilianiHenning Bundgaard
Jun 30, 2010·Fundamental & Clinical Pharmacology·Naranjan S DhallaMeera Kaur
Jun 22, 2013·Journal of Forensic Sciences·Jose M Suárez-PeñarandaJose Ignacio Muñoz-Barús
May 21, 2010·Electrophoresis·Catarina AllegueMaría Brión
Jun 1, 2015·Current Cardiology Reports·Marwan M RefaatBarry London
Oct 28, 2014·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Christin L HertzHenning Bundgaard
Apr 26, 2016·Annales de cardiologie et d'angéiologie·M A MesratiA Chadly
Dec 8, 2010·Medicine, Science, and the Law·Nicolas FranchittoDaniel Rougé
Jun 2, 2009·BioTechniques·Bruce Budowle, Angela van Daal
Jan 20, 2018·International Journal of Legal Medicine·Jacqueline NeubauerCordula Haas
Sep 14, 2018·Current Cardiology Reviews·Georgia Sarquella-BrugadaOscar Campuzano
Jun 4, 2017·Bulletin of Experimental Biology and Medicine·A A IvanovaM I Voevoda
May 1, 2021·International Journal of Molecular Sciences·Simone GrassiAntonio Oliva
Aug 7, 2021·Healthcare·Francesco SessaMonica Salerno

❮ Previous
Next ❯

Related Concepts

Related Feeds

Adherens Junctions

An adherens junction is defined as a cell junction whose cytoplasmic face is linked to the actin cytoskeleton. They can appear as bands encircling the cell (zonula adherens) or as spots of attachment to the extracellular matrix (adhesion plaques). Adherens junctions uniquely disassemble in uterine epithelial cells to allow the blastocyst to penetrate between epithelial cells. Discover the latest research on adherens junctions here.

Cadherins and Catenins

Cadherins (named for "calcium-dependent adhesion") are a type of cell adhesion molecule (CAM) that is important in the formation of adherens junctions to bind cells with each other. Catenins are a family of proteins found in complexes with cadherin cell adhesion molecules of animal cells: alpha-catenin can bind to β-catenin and can also bind actin. β-catenin binds the cytoplasmic domain of some cadherins. Discover the latest research on cadherins and catenins here.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Cardiovascular Risk Prediction

Cardiovascular risk prediction models based on classical risk factors identified in epidemiological studies are useful in primary prevention of cardiovascular disease in individuals. Here is the latest research.

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.

Adhesion Molecules in Health and Disease

Cell adhesion molecules are a subset of cell adhesion proteins located on the cell surface involved in binding with other cells or with the extracellular matrix in the process called cell adhesion. In essence, cell adhesion molecules help cells stick to each other and to their surroundings. Cell adhesion is a crucial component in maintaining tissue structure and function. Discover the latest research on adhesion molecule and their role in health and disease here.

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic right ventricular dysplasia is a congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the right ventricle wall and loss of myocardial cells. Primary injuries usually are at the free wall of the right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. Discover the latest research on arrhythmogenic right ventricular dysplasia here.

Cardiovascular Disease Pathophysiology

Cardiovascular disease involves several different processes that contribute to the pathological mechanism, including hyperglycemia, inflammation, atherosclerosis, hypertension and more. Vasculature stability plays a critical role in the development of the disease. Discover the latest research on cardiovascular disease pathophysiology here.

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.