Brugada syndrome is a form of cardiac arrhythmia, particularly ventricular arrhythmia, that can cause sudden cardiac death despite the individual having a structural normal heart. Diagnosis is based on an electrocardiographic pattern or by sodium channel blocker test (Gourraud 2016). Brugada syndrome is an autosomal dominant inheritable syndrome with variant in the SCN5A gene. Current global prevalence is 5 in 10,000 people, the incidence rate is higher in Southeast Asia countries than in the United States and Europe (Soler2016). Individuals with a diagnosis of Brugada syndrome on ECG, along with syncope or family history of sudden cardiac death usually qualifies patients for an implantable cardioverter-defibrillator. Description of Brugada …show more content…
A common presentation is syncope or sudden cardiac death, which is caused by fast polymorphic ventricular tachycardia (Antzelevitch 2016). According to Genetic Home Reference this can be cause by a mutation in one of several genes, the most common being SCN5A. This gene is responsible for providing the instructions that make a sodium channel within the cell. This channel would normally move positively charged sodium ions into the hearts muscle cells which is imperative for maintaining a healthy, normal heart rhythm. A mutation in this gene can change the function or structure of this channel, disrupting the flow of sodium through the channel, which can lead to abnormal heart …show more content…
If a patient presents with a family history of unexplained sudden cardiac death, and with symptoms of syncope, they may be tested for this syndrome. Diagnostic tests include an ECG particularly watching the anterior precordial leads, or with a sodium channel blocker test if the ECG is not conclusive. These sodium channel tests include the infusion of either Ajmaline, Flecainide, or Procainamide and watching for ECG changes during administration. Other conditions such as myocardial ischemia, pericarditis, pulmonary embolism, metabolic disorders (hyper/hypokalemia, hypercalcemia), can exhibit the same Brugada like ECG pattern so these need to looked at and ruled out as possibilities (Gourraud
There are several different heart problems that show up as an abnormal EKG reading. For example, a heart block can occur when there is a delay in the signals coming from the SA node, AV node, or the Purkinje fibers. However, clinically the term heart block is used to refer to an AV block. This delays or completely stops communication between the atria and the ventricles. AV block is shown on the EKG as a delayed or prolonged PR interval. The P wave represents the activity in the atria, and the QRS complex represents ventricular activity. This is why the PR interval shows the signal delay from the AV node. There are three degrees of severity, and if the delay is greater than .2 seconds it is classified as first degree. Second degree is classified by several regularly spaced P waves before each QRS complex. Third degree can be shown by P waves that have no spacing relationship to the QRS complex. Another type of blockage is bundle branch block. This is caused by a blockage in the bundle of His, creating a delay in the electrical signals traveling down the bundle branches to reach the ventricles. This results in a slowed heart beat, or brachycardia. On an EKG reading this is shown as a prolonged QRS complex. A normal QRS is about .8-.12 seconds, and anything longer is considered bundle branch block. Another type of abnormal EKG reading is atrial fibrillation, when the atria contracts very quickly. On the EKG this is shown by no clear P waves, only many small fibrillating waves, and no PR interval to measure. This results in a rapid and irregular heartbeat. On the other hand, ventricular fibrillation is much more serious and can cause sudden death if not treated by electrical defibrillation.
According to “Heart Disease and Marfan Syndrome” (n.d.) Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, a part of connective tissue that contributes to its elasticity and strength. It is also stated that Marfan syndrome is mostly inherited from a parent, but 1 in 4 cases occurs when the patient has no known family history of the disease. To add, the condition occurs
Brunner syndrome is a recessive X-linked disorder characterized by impulsive aggressiveness and mild mental retardation associated with MAOA deficiency. According to Brunner, it is a rare genetic disorder with a mutation in the MAOA gene (monoamine oxidase A gene). It is characterized by lower than average IQ (typically about 85), is a problematic impulsive behavior (such as arson, hypersexuality and violence), is also a sleep disorders and mood swings. Brunner syndrome was first discover by Hens G. Brunner; his findings has been used to argue genetics, and the behavior can cause criminal activity. Evidence supporting the genetic defense stems from both Brunner’s findings and a series of studies on mice have proven correlation
This is induced by the sliding of the cardiac myofibril. Hypertrophic Cardiomyopathy, also known as HCM, is a type of heart disease that affects the Cardiac Muscles and Cardiac Muscle cells. This disease occurs if the Cardiac Muscle cells enlarge, which causes the wall of the heart’s ventricles (most often the left ventricle) to thicken. It can also cause stiffness in the ventricles, as well as mitral valve and cellular changes. On a cellular level, HCM can cause the cells to become disorganised and lost.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere increase in size. As a result, the cardiac muscles become abnormally thick, making it difficult for the cells to contract and the heart to pump. A genetic mutation causes the myocytes to form chaotic intersecting bundles. A pathognomonic abnormality called myocardial fiber disarray. [2,12] How the hypertrophy is distributed throughout the heart is varied. Though, in most cases, the left ventricle is always affected. [3] The heart muscle can thicken in four different patterns. The most common being asymmetrical septal hypertrophy without obstruction. Here the intraventricular septum becomes thick, but the mitral valve is not affected. Asymmetrical septal hypertrophy with obstruction causes the mitral valve to touch the septal wall during contraction. (Left ventricle outflow tract obstruction.) The obstruction of the mitral valve allows for blood to slowly flow from the left ventricle back into the left atrium (Mitral regurgitation). Symmetrical hypertrophy is the thickening of the entire left ven...
One of the leading causes of death in the United States is heart disease. “Approximately every 29 seconds one American will have a heart attack, and once a minute one American will die from a heart attack” (Ford-Martin and Odle, 915). According to the Gale Encyclopedia of Alternative Medicine men over the age of 45 and women over the age of 55 are considered at risk for heart disease. Heart disease is a major cause of death. It is beneficial to individuals who seek to prevent heart disease to recognize the risks leading to heart attacks as they are one of the primary indications of developing heart disease; especially those that fall into the at risk age groups. These risks consist of some that cannot be changed such as heredity risks, or those that can change such as smoking habits. It is very important to know these specific risks for prevention and to understand the symptoms of heart attacks, such as sweating or the feeling of weakness so if these or other symptoms occur people are aware. Finally heart disease treatment is of vital importance if you experience a heart attack so you can learn how to prevent another one from occurring.
Most often the disease starts in the left ventricle, and then often spreads to both the atrium and right ventricle as well. Usually there will also be mitral and tricuspid regurgitation, due to the dilation of the annuli. This regurgitation will continue to make problems worse by adding excessive volume and pressure to the atria, which is what then causes them to dilate. Once the atria become dilated it often leads to atrial fibrillation. As the volume load increases the ventricles become more dilated and over time the myocytes become weakened and cannot contract as they should. As you might have guessed with the progressive myocyte degeneration, there is a reduction in cardiac output which then may present as signs of heart failure (Lily).
Bradycardia can be very serious. Some of the symptoms are loss of consciousness, heart failure, or death. Slow heart rates are caused by heart block. The hearts natural pace-maker fails to be conducted to the ventricles, the hearts main pumping chambers.
Cardiac dysrhythmias come in different degrees of severity. There are heart conditions that you are able to live with and manage on a daily basis and those that require immediate attention. Atrial Fibrillation is one of the more frequently seen types of dysrhythmias (NIH, 2011). The best way to diagnosis a heart condition is by reading a cardiac strip (Ignatavicius &Workman, 2013). Cardiac strips play an chief part in the nursing world allowing the nurse and other trained medical professionals to interpret what the heart is doing. In a normal strip, one can clearly identify a P wave before every QRS complex, which is then followed by a T wave; in Atrial Fibrillation, the Sinoatrial node fires irregularly causing there to be no clear P wave and an irregular QRS complex (Ignatavicius & Workman, 2013). Basically, it means that the atria, the upper chambers of the heart, are contracting too quickly and no clear P wave is identified because of this ‘fibrillation’ (Ignatavicius & Workman, 2013).
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.
Bradycardia and hypotension are also possible. Physical examination may reveal depressed affect, eyelid edema, loss of lateral third of the eyebrow, thickened tongue, dry skin, and hypo reflexivity; however, most patients will have a benign and unrevealing physical examination (Gregory, 2014). Although this disease is simple, it can also become extremely intricate if it is left untreated, which can cause many complexed conditions in the body. This can lead to cardiovascular diseases, goiter, and possible major pregnancy complications and, in extremely rare cases can lead to myxedema coma which is a life-threatening (Mendes,
Cardiovascular System: He does not experience any chest pain or palpitation. He does not have dyspnea or leg swelling.
The heart beats when electrical signals move through it. Ventricular fibrillation is a condition in which the heart's electrical activity becomes disordered. When this happens, the heart's lower (pumping) chambers contract in a rapid, unsynchronized way. (The ventricles "flutter" rather than beat.) The heart pumps little or no blood therefore the probability of death is high.
The patient has high temperature-sign of fever, a very fast pulse rate (tachycardia), and chest wheezing when listened to using a stethoscope (Harries, Maher, & Graham, 2004, p.