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Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Familial heart block may rarely occur congenitally and without other features, but important dominantly inherited forms exist with onset in adult life and no early clinical abnormalities. These are now distinguished as inherited sinus node dysfunction and progressive cardiac conduction defect (several genes are known). Heart block may also arise as one part of the wider phenotype of some inherited disorders, most especially myotonic dystrophy and lamin A/C disease (including Emery-Dreifuss muscular dystrophy).
Mitochondrial Dysfunction and Heart Diseases
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Cardiac voltage-gated sodium channels (Nav) consist of heteromeric assembly of a pore-forming α subunit and auxiliary β subunits. Nav 1.5 (SCN5A) is the major Nav α subunit expressed in myocardium.101 Nav channels play a critical role by generating the rapid upstroke (phase 0) of the action potential to excite cardiomyocytes. Nav channels also regulate the conduction of electrical impulse within the myocardium, together with cardiac gap junctions. Abnormal cardiac Nav channels has been described in several hereditary cardiac diseases, in myocardial ischemia102 and heart failure.103 Gain of function (GOF) mutation of Nav 1.5 can cause long QT syndrome type III and rare familial atrial fibrillation,104 while loss of function (LOF) mutation have been reported to cause Brugada syndrome,105 progressive cardiac conduction defect, sinus node dysfunction, atrial arrhythmias, and poor pacemaker capture.106 Mutation of SCN5A has also been reported in multifocal ectopic premature Purkinje-related complexes (GOF mutations), isolated cardiac conduction defect (LOF mutations), sick sinus syndrome (LOF mutations), atrial fibrillation (LOF or GOF mutations) [see review107]. In addition, both loss- and gain-of-function mutations may cause dilated cardiomyopathy, which increase the risk of arrhythmia.
The cardiovascular system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
Mary N Sheppard, C. Simon Herrington
Sudden cardiac death (SCD) is always a devastating event. The death is sudden and unexpected occurring within one hour of onset of symptoms or found dead in bed, and often in a person who was thought to be healthy. SCD occurs more often in men than women. In older patients, sudden cardiac death is usually caused by ischaemic heart disease whilst, in younger patients, the cardiomyopathies, myocarditis and anomalous coronary arteries are typically responsible. When postmortem examination of an apparently previously healthy adult who has died suddenly and unexpectedly reveals no morphological abnormalities to explain their death and toxicology is also negative we label this the negative autopsy. This entity is known as sudden adult death syndrome (SADS) or sudden arrhythmic death (SAD) as many of the deaths are attributed to electrical abnormalities causing cardiac arrhythmia. Arrhythmia syndromes or cardiac channelopathies are a heterogenous group of conditions that are usually hereditary and are associated with a structurally normal heart. They are caused by mutations in genes encoding cardiac ion channel subunits and channel interacting proteins. The channelopathies include Long QT syndrome (LQTS)Brugada syndromeCatecholaminergic polymorphic ventricular tachycardia (CPVT)Progressive cardiac conduction defect (PCCD)Early repolarization syndromeIdiopathic ventricular fibrillation (IVF), sodium channel disease
Are Pelvic Binders an Effective Prehospital Intervention?
Published in Prehospital Emergency Care, 2023
Abdulai Bangura, Cynthia E. Burke, Blessing Enobun, Nathan N. O’Hara, Joshua L. Gary, Doug Floccare, Timothy Chizmar, Andrew N. Pollak, Gerard P. Slobogean
There is wide practice variation in the application of prehospital PCCDs and the disparate PCCD application across the state is likely explained by differences across EMS organizations, provider levels, and PCCD availability. Our work revealed that prehospital PCCDs is associated with a shorter hospital length of stay for patients with unstable pelvic ring fractures; however, we advise caution interpreting this finding. Our study was unable to identify any improvements in vital signs, blood transfusion, or mortality associated with prehospital PCCD use. It is possible that early benefits of a prehospital PCCD can only be observed in the most displaced fracture patterns with the greatest early hemodynamic instability. Given the diagnostic uncertainty faced by EMS providers, it is our opinion that prehospital PCCD use should continue to be promoted until definitive evidence of harm or efficacy is obtained from multi-center studies. In the interim, our study highlights opportunities for improvement in prehospital pelvis fracture assessment and increased standardization of EMS protocols.
Evaluation of Pelvic Circular Compression Devices in Severely Injured Trauma Patients with Pelvic Fractures
Published in Prehospital Emergency Care, 2022
Josephine Berger-Groch, Johannes Maria Rueger, Patrick Czorlich, Karl-Heinz Frosch, Rolf Lefering, Michael Hoffmann
This study is based on registry data, in which the condition on admission is well documented but without dynamic development during the initial stabilization phase. So dynamic changes could not be adjusted for. The application of a PCCD might thus be interpreted as a deterioration in the patient´s situation. The observed effect of PCCD application is thus both a potential benefit of the intervention minus possible deterioration due to the unstable situation.