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Flash card on congenital heart diseases
Flash card on congenital heart diseases
Congenital Heart Defects quizlet
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“Ebstein’s anomaly is a rare cardiac anomaly that occurs in approximately one in 20,000 live births and accounts for less than 1% of all congenital heart disease (Ebstein’s anomaly in adults)”. The goal of this paper is to examine Ebstein’s Anomaly - to understand what it is, how it affects the heart, possible presenting symptoms, and other possible complications associated with this anomaly. Diagnosis of this anomaly is key in treating patients, thus echocardiographic as well as other test modalities are vital in assessing what the treatment options are available, as well as discerning what the prognosis may be. Advancing test modalities have helped distinguish Ebstein’s Anomaly with other differential diagnoses. Developments with testing modalities coupled with comprehensive calculations, formulas, and measurements have facilitated correctly diagnosing, and therefore properly treating cardiac patients.
Definition
Ebstein’s Anomaly is a rare congenital condition, present at birth, in which the tricuspid valve is malformed and the valve itself is not in the correct anatomic place (Mayo Clinic Staff). This anomaly affects the right side of the heart – the tricuspid valve is located too deep into the ventricle, causing a smaller and weaker right ventricle. The space above the decreased right ventricle is made up of atrial tissue and this can be referred to as right ventricle dysplasia or an atrialized right ventricle (Reynolds). Typically the tricuspid valve has three freely moving leaflets, but in Ebstein’s anomaly one or two of those leaflets get fused to the heart walls causing regurgitation. Since the heart does not work as efficiently in those who have this anomaly, the heart usually compensates and becomes enlarged. It...
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...rom http://www.ebsteinsanomaly.org/what_is_ea.html
Hartnell, G. (2013, July 22). Ebstein Anomaly Imaging. Retrieved January 23, 2014, from http://emedicine.medscape.com/article/349278-overview#a24
Mayo Clinic Staff (n.d.). Ebstein's Anomaly Causes - Diseases and Conditions - Mayo Clinic. Retrieved January 23, 2014, from http://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/basics/causes/con-20033605
Riaz, K. (2013, April 15). Ebstein Anomaly. Retrieved January 23, 2014, from http://emedicine.medscape.com/article/154447-overview#a0101
Swiss Medical Weekly (2005). Ebstein’s anomaly – review of a multifaceted congenital cardiac condition. Retrieved February 22, 2014, from http://www.smw.ch/docs/pdf200x/2005/19/smw-10985.PDF
Tidy, C. (2012, December 10). Ebstein's Anomaly. Retrieved February 22, 2014, from http://www.patient.co.uk/doctor/ebsteins-anomaly
There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into a detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases.
When MVP occurs, the left ventricle contracts, one or both flaps of the mitral valve flop or bulge back (prolapse) in the left atrium, this prevents the valve from forming a tight seal. As a result, blood may leak back into the atrium which is referred to as regurgitation (nhlbi.nih.gov).
“Hypoplastic left heart syndrome accounts for 9% of all critically ill newborns with congenital cardiac disease, causing the largest number of cardiac deaths in the first year of life.(2) ” HLHS is a severe heart defect that is present at birth. HLHS combines different defects that result in an underdeveloped left side of the heart. This syndrome is one of the most challenging and difficult to manage of all of the congenital heart defects. Multiple portions on the left side of the heart are affected including the left ventricle, the mitral and aortic valve, and the ascending aorta. These structures are greatly reduced in size, or completely nonexistent causing the functionality of the left heart to be reduced, or non-functional all together.
In sporadic CJD, the disease occurs even though the affected does not have any known risk factors that would cause an occurrence of the disease. This sudden occurring CJD is indisputably the most frequently diagnosed type of Creutzfeldt - Jakob disease. This statistically accounts for at least 85 percent of CJD cases. Due to that there are some fifty to sixty deaths per year due to sporadic CJD in the United States alone. Similar figures are seen in other countries such as Australia, Canada and the United Kingdom.
Hypertrophic Cardiomyopathy: Effects on Young Athletes Alyssa Trimm 130568370 Wilfrid Laurier University Dr. Kalmar KP 122 Section A
During a physical examination, a specialist may hear a heart murmur which will prompt a referral to a pediatric cardiologist for an analysis. Diagnostic testing will vary by the child’s age, clinical condition, and institutional preferences. Such test may incorporate a chest X-ray, electrocardiogram, echocardiography and cardiac catheterization. A chest X-ray uses unseen X-ray beams to cr...
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.
The purpose of this paper is to establish an understanding of the rare heart disease Tetralogy of Fallot. Tetralogy of Fallot is a congenital heart defect that is present at birth, with the structure of the heart being problematic. It changes the normal flow of blood through the heart. The aspects of it being explained are the overall disease and symptoms of it. Secondly, the long term and short term effects corresponding to the particular disease. Lastly, the causes, prevention, and statistics of the disease. This research will provide an insight to the disease and all aspects and forms. It will allow a better understanding on how to cope with such disease or better prepare us in a case where this disease may be present and have to be dealt with.
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...
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
Meaning that MC’s are more inclined to have the mutation through fHCM in the protein gene responsible for regulating a the contracting of the heart “ cMyBP-C protein plays a regulatory role in the sarcomere of cardiomyocytes and is involved in regulation of cardiac contractility” (2013). The test cases in each of the articles show relatively similar results and use many of the same methods with variation in the amount of MC cats used. Cardiac tissue samples from Cat A and Cat B, with the permission from their owners, were part of a study at the University of Copenhagen (2013). The A sample was positive and the B sample was negative and both were studied by an ultrasound (2-D) and cardiac cycles (M-mode) “Cat A was a 36-month-old male homozygous for the p.A31P mutation, with a mild HCM phenotype. Cat B was 16 months old, mutation negative queen, with no clinical signs of HCM… examined by 2-D and M-mode echocardiography” (2013). The results from samples from A and B was the presence of proline (unimportant amino acid that appear in proteins) at the cMyBP-C protein for cat A but not for cat B (2013). The samples found that the p.A31P mutation does not seem to lead to the cause of
M.S. presented to the Emergency Room on February 2, 2016 with complaints of abdominal pain with chronic shortness of breath. M.S. revealed tachycardia during triage. EKG presented new onset atrial fibrillation, atrial flutter, and labs expressed elevated troponin I levels. M.S. was transferred to the telemetry unit for further treatment. M.S. is an 80 year-old Black American born on August 29, 1936. Upon report on February 3, 2016 M.S. has no known allergies and has elected to be a status full code. Overnight M.S. came out of atrial fibrillation with rapid ventricular
2. (2012, 02). Phenylketonuria. Your Guide to Understanding Genetic Conditions. Retrieved 04, 2014, from http://ghr.nlm.nih.gov/condition/phenylketonuria