Chapter 1 - General introduction
Due to great progress in genetic testing during the last decade, there is an increasing awareness of congenital heart diseases that give a higher risk of sudden cardiac death (SCD). A good example of such heart disease is the congenital Long QT Syndrome (LQTS). This disorder is a leading cause of SCD in the non-adult population.1 Ion channels responsible for the ventricular repolarization are mutated, causing a prolongation of the QT-interval on ECG.2 This aberrant repolarization of the heart gives a risk of the occurrence of ventricular arrhythmias, called torsades de pointes. These arrhythmias are mainly precipitated by emotional or physical stress2 and cause symptoms such as syncope or cardiac arrest. The prevalence of LQTS is around 1:2000.3 The most common involved LQTS genes are KCNQ1, KCNH2 and SCN5A, resulting in the subtypes LQT1, LQT2 and LQT3 respectively.3 Each mutation has its own clinical manifestations and its own specific management. The diagnosis for LQTS is established by the use of the Schwartz score.4 This scoring
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These include infection, occurrence of inappropriate shocks and the potential of inducing, instead of terminating ventricular arrhythmias.10, 11 On top of this, younger patients need more device replacements. Due to their active life style they are more likely for lead fractures, causing more frequently inappropriate shocks.12 Besides these complications, patients are experiencing fear for (in)appropriate discharge and they are disqualified for competitive sports participation.13 All in all, this raises the question whether ICD-treatment in young people is the most qualified one. This dilemma is also postulated in the following
43 percent of alarm conditions indicated non-critical, and “generally non-actionable,” events; 38 percent of alarm conditions indicated premature ventricular complexes (PVCs), which, since a landmark 1988 Cardiac Arrhythmic Suppression Trial (CAST) study, are no longer treated; and 3.6 percent of alarm
A young professional hockey player collapsed during a game that had no previous symptoms or problems before the collapse. People began CPR and used an automated external defibrillator (AED) 3 times before paramedics arrived. This ultimately prevented him from dying from sudden cardiac arrest. He received an implantable cardioverter-defibrillator to correct his heart rhythms and was released without medications.
The goal: To identify the difference in severity of FH for the homozygous and heterozygous genotypes. Also, to learn about statins.
When one begins to discuss issues that arise with an intrinsic organ, things get serious. Unfortunately, vital organs like the heart and liver that are causing problems can’t be removed like the appendix or the kidney and “cure” people of issues such as Appendicitis or constant dealings with gallstones. This is true when things begin to go awry within the heart and conditions begin to arise. Atrial Fibrillation (A-fib) is the most common type of arrhythmia, or issue with the heart rate or rhythm. Though A-fib is not a condition that is life-threatening, depending on the severity and lack of treatment, this condition leads to more serious issues like heart disease, and even heart attacks and strokes, which are usually what end up being the cause of death in individuals diagnosed with the condition. Because of A-fib leading to other more detrimental problems, such as the ones listed above, it is difficult to identify and pinpoint if someone has it or had it, which is why it is known as one of the contributors to the “silent killer,” also known as the heart attack. In this paper, gaining a deeper understanding of Atrial Fibrillation will be accomplished through the exploration of: causes, diagnosis, symptoms and treatment, the variation of types, what all is affected within the body as a result, what happens physically, and what occurs at the cellular level when diagnosed with this disorder. All in all, Atrial Fibrillation should be taken seriously and further research is
Almost everyone who works in EMS has this one thing in common, the fear of the pediatric call. Due to those calls being few and far between, the skills needed for a pediatric call are rarely at their best. There are also some who don’t keep their pediatric skills as sharp as others, because of the low amount of calls they might run on kids. This paper will be focusing on cardiac arrests in children, and opening the reality of how common it is becoming. Everything from what causes it, what is the most common cause, and the unexplainable. The what’s, how’s and whys are all questions that we will be expected to know. There is so much that goes into these patients, physically and mentally. Knowing these things and understanding how to handle these situations is just as important as knowing the information for a registry test. In almost most of these incidents the family doesn’t care how much you know, they care about how much you care.
Sergio Ramirez Date 11/04/2014 Dr. Rachel Friedman Persuasive Speech Cardiopulmonary resuscitation: Saving a life. Specific Purpose:
The heart cannot help but break for the suffering of children who are marked by the cruelty of congenital diseases. One such disease is tetralogy of tallot which as a congenital ailment occurs at birth and involves four different kinds of cardial defects (Mayo Clinic, 2015). The incidents of tetralogy of fallot is actually quite rare with only five out of every 10,000 developing it at birth (National Heart, Lung, and Blood Institute, 2011). It is still important to be familiar with. One reason for the need of understanding the disease is that of all congenital heart disorders it is the one most frequently seen, and the mortality rate is another consideration as 50% will not survive past the age of six should tetralogy of fallot be left untreated (Bhimji & Mancini, 2015). Finally, while vast improvements have been made in intervention of the disease improving survivability the condition will have an effect upon a patients throughout their lifetimes. It is because of these that it is important for early recognition, diagnosis, treatment and care of the disease be enacted to ensure not only a positive health outcome but also a good quality of life.
Ventricular fibrillation is when the lower chambers quiver and the heart can't pump any blood, causing cardiac arrest. Kevin lived the normal life of a teenage kid, he played sports and never had a problem. He had a fainting spell about a week before he had the cardiac arrest, but thought it wasn’t anything serious After a doctor appointment, the Oills found out that there is a history of long QT defect in the family. They kept a heart shocker in the house in case they needed it. Now knowing about this heart defect, it changes their whole life. Kevin’s mom has to make some important decisions about what to do about Kevin’s younger brothers. She has to decide if they should get a pump impacted in them in case of any heart problem, or just wait for something bad to happen and it be too late to save them. There is no cure for this heart condition. Each event could lead to a next. Kevin has a heart defibrillator that will shock his heart back to life. His mom and two brothers are on beta blockers to help prevent their heart from stopping.
Mutations have been identified, in recent genetic studies, in several genes that encode for the proteins that regulate or modulate these ion channels. These mutations can lead to Long QT syndrome by altering cardiac repolarization and increasing the risk for ventricular arrhythmias (4). Mutations shown to cause long QT syndrome have been identified in 12 genes. These explain roughly 75% of long QT syndrome cases and the remainder is thought to be caused by mutations in genes that have not yet been identified as a cause of long QT syndrome (4). Most of the information known about mutations that cause long QT syndrome links to the first five long QT syndrome genes identified which are listed here with commonly used gene aliases: KCNQ1 (KVLQT1); KCNH2 (HERG); SCN5A (hH1 and NaV1.5); KCNE1 (minK); and KCNE2 (MiRP1). Observed mutations in these genes include missense (72 percent), frameshift (10 percent), splice-site (7 percent), and nonsense mutations (6 percent), and in-frame deletions (5 percent) (4). An increased risk of ventricular arrhythmias results from the prolongation of the action potential, and therefore the QT interval, which is caused by rapid delayed potassium rectifier channel current (IKr), reduced slow delayed potassium rectifier channel current (IKs), or
Based on such several studies the annual incidence of SCD in US is approximately 180,000 – 250,000 cases per year and worldwide it will be 4-5 million cases per year. The study from the Multnomah County, Oregon showed that 5.6% of the annual deaths are due to SCD, with very narrow differences between genders and the use of death-certificate data for study gives an overestimation of problem. This study has also suggested that per year approximately 40% of the SCD include females out of all cardiac death [13]. Straus et al studied 249,126 subjects with the median age of study as 40 years, found that the incidence of SCD in the general Dutch population is around 1 per 1,000 person-years and it increase with age and varies with gender, calendar month, and day of the week [145]
Long QT syndrome (LQTS) is a heart rhythm condition that can potentially cause fast, chaotic heartbeats. These rapid heartbeats might trigger a sudden fainting spell or seizure. In some cases, the heart can beat erratically for so long that it causes sudden death. The condition is treatable however the patient may need to take precautions in order to avoid an irregular heart beat the form of medication. Sometimes surgery or implantable devices have to be involved as part of a treatment plan. The patient will have to avoid medications known to cause the condition or provoke symptoms and some physical activities will have to be neglected.
Without early intervention on average 360,000 people out of the hospital succumb to cardiac arrest. “ Cardiac arrest and sudden death account for 60 percent of all deaths from coronary artery disease”,(Bledsoe, Porter, & Cherry, 2011,2007,2004, p. 1229)There are several causes of sudden cardiac arrest. Most are caused by ventricular fibrillation. “During ventricular fibrillation, the ventricles do not beat normally. Instead they quiver rapidly and irregularly.” When this occurs, the heart pumps very little and blood does not get circulated throughout the body. “ Most of the cases found with sudden cardiac death are related to undetected cardiovascular disease.("Sudden Cardiac Death," 2015, para. 2)Sudden cardiac arrest are immediate and drastic that includes sudden collapse, no pulse, not breathing, and loss of consciousness. “Four rhythms produce pulseless cardiac arrest: ventricular fibrillation, rapid ventricular tachycardia, pulseless electrical activity and asystole.”("Circulation ," 2005, p. IV-58)Other signs and symptoms that could occur prior to sudden cardiac arrest, include fatigue,
In conclusion, the Q wave once developed usually never go away for good. Any Q-wave in leads V2-V3>0.02 s or QS complex in leads V2 and V3; Q wave 0.03 s and 0.1 mV deep or QS complex in leads I, II, aVF, or V4-V6 in any two leads of a contiguous lead grouping. Absence of pathologic Q waves does not exclude a myocardial infarction! Lead III often shows Q waves, which are not pathologic as long as Q waves are absent in leads II and aVF the contiguous
Congenital heart diseases (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life, (1) with an annual prevalence ranging from six to twelve affected infants per 1,000 live births. (2)
In addition, scientists have found that genetics also plays a role in cardiac arrhythmias and that in some cases patients have commented that they had no symptoms before they succumbed to some form of episode of cardiac distress, like a sudden heart attack. This has proven to be standard for many different forms of arrhythmias, whether it’s due to genetics or not. One such case is the long QT syndrome (LQTS) which is estimated to affect one in every 5000 people and is recognized as a family disorder, frequent in children during their childhood years (Wilde, and Bezzina 1352–1358.) Patients with this disorder can have symptoms of a fluttering heartbeat, shortness of breath, and chest pain, while other patients might not experience any symptoms at all (Wilde, and Bezzina 1352–1358.) Another known disorder is cardiac conduction disease, which is mostly due to some form of cardiac injury (Wilde, and Bezzina 1352–1358.) Symptoms for this