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.
This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two are just as long as the original term for the disorder. They are known as Cardio-facial-cutaneous syndrome and Facio-cardio-cutaneous syndrome. It was first construed in the year of 1986 by J.F. Reynolds and associates at two places; the Shodair Children’s Hospital in Helena, Montana and the University of Utah. Its explanation was concluded from the examination of eight unrelated patients who all shared many of the same characteristics. They all had psychological disabilities and analogous aberrations in their appearance of their face, hair, skin, nails, and heart.
Cardiofaciocutaneous syndrome may be generated through various genetic mutations. As mentioned before, there are four genes that can cause this condition to be brought about in an individual. The most frequent mutation of these is the BRAF gene, because it is responsible for approximately 75 to 80 percent of each case of the syndrome. The two genes, MEK1 and MEK2, are very much alike and together are the result of 10 to 15 percent of ...
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...ocutaneous Syndrome." Cardiofaciocutaneous Syndrome. N.p., n.d. Web. 29 Nov. 2013. .
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Schepis, Carmelo, Donatella Greco, and Corrado Romano. "Cardiofaciocutaneous (CFC) Syndrome." Australasian Journal of Dermatology 40.2 (1999): 111-13. Print.
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
Barone, Eugene J., Judson C. Jones, and Joann E. Schaefer. "Hidradenitis Suppurativa." Skin Disorders. Philadelphia: Lippincott Williams & Wilkins, 2000. 21-25. Print.
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
Millions of people suffer from heart valve disease every year (“US Markets for Heart Valves”, 2007). Out of all of the heart valve diseases, “mitral regurgitation is the second most common valvular heart disease” (Baumgartner et al., 2006). This is due to the fact that the mitral valve experiences the most pressure and blood flow compared to the other valves in the heart (“US Markets for Heart Valves”, 2007). The disease occurs when blood leaks back into the left auricle from the left ventricle, which is caused by the mitral valve not closing properly (Lantada et al., 2009). The majority of the time, the mitral valve does not function correctly due to a structural abnormality (Buckner et al., 2010). These abnormalities can occur in either the papillary chords or the papillary muscles (Lantada et al., 2009). The frequency of the mitral valve abnormalities, especially in the elderly population, led to extensive research to find a solution (“US Markets for Heart Valves”, 2007).
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 a genetic disease of the heart, making the cardiac muscle is thick and strong. The thick muscle causes a decrease in cavity size, forcing the heart to pump less blood. Hypertrophic cardiomyopathy is one of the primary causes of sudden death as the prevention of blood flow causes cardiac arrest. More successful research is being conducted on HCM, including research on the genetics associated and the heredity of the genes. Unfortunately this disorder effects many young athletes due to their increased stresses of training on their heart. However, despite the use of new technology such as the electrocardiogram and transthoracic echocardiogram, the strategies are limited, restricting new answers.
It’s a “nonlesion” syndrome , exhibit no clinically detectable lesions, although symptoms of pain and burning can be intense. This is particularly frustrating problem for both patient and clinician, because there is usually no clear cut cause and no uniformly successful treatment is present.
HZ patients typically present with a characteristic, distinguishing unilateral, localized, vesicular eruption in dermatome distribution, that is often followed by an intensive localized prodromal pain. In rare instances, it is acco...
Schmitt JP et. al. Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban. Science 2003 299, 5611: 1410-13
Cardiomyopathy can be acquired or inherited. "Acquired" means you weren 't born with the disease but you developed it due to another disease, condition or factor. "Inherited" means your parents passed the gene for the
Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this genetic mutation manifests thought out the body, the presenting symptoms, the risk factors, treatment, and education needs of the patient.
“Heart failure is a chronic, progressive condition in which the heart muscle is unable to pump enough blood through to meet the body's needs for blood and oxygen” (American Heart Association, 2012, para 3). What this basically means is that the body is functioning in a way that the heart cannot keep up with. Although heart failure can be acute and occur suddenly, it usually develops over time and is a long-term or chronic condition. There are two different types of heart failure, left-sided and right-sided, and they can be caused by other diseases such as diabetes, coronary heart disease, or high blood pressure (National Institutes of Health, 2012). In most cases, both sides of the heart are affected simultaneously.
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...
(Slide 5) Dilated cardiomyopathies results from a wide spectrum of genetic, inflammatory, toxic, and metabolic causes. However, at least 750,000 of the over 300 million U.S. population are likely to have idiopathic (ie: the cause is unknown) dilated cardiomyopathy (Hershberger). (Slide 6) Although many cases are currently classified as idiopathic, some examples of known causes include specific gene mutations, chronic excessive alcohol ingestion and other recreational drug use, chemotherapy, pregnancy, and viral myocarditis
Genetics & Personalized Medicine. (2013). University of Ottawa Heart Institute. Retrieved on February 3, 2014 from: http://www.ottawaheart.ca/research_discovery/genetics-personalized-medicine.htm