Fact Sheet on Marfan Syndrome
... Marfan Syndrome may be difficult to diagnose because signs of the condition vary greatly from one person to the next. Most affected people will not have all the signs and complications of Marfan Syndrome. Diagnosis can be confirmed within a family by genetic linkage studies. Mutations can be found i ...
... Marfan Syndrome may be difficult to diagnose because signs of the condition vary greatly from one person to the next. Most affected people will not have all the signs and complications of Marfan Syndrome. Diagnosis can be confirmed within a family by genetic linkage studies. Mutations can be found i ...
Full Text
... defect (VSD) or Taussig-Bing anomaly. In the present study, risk factors for more significant AR and/or for aortic valve surgery were not reported. From their findings, the authors of this study speculate that AR is related to high pressure and flow in the pulmonary artery before ASO. Surgical techn ...
... defect (VSD) or Taussig-Bing anomaly. In the present study, risk factors for more significant AR and/or for aortic valve surgery were not reported. From their findings, the authors of this study speculate that AR is related to high pressure and flow in the pulmonary artery before ASO. Surgical techn ...
Basic Cardiovascular System and Pathological Abnormalities
... • Progressive cyanosis and hypoxemia • Hx of poor feeding, tachypnea and poor weight gain • Cardiovascular shock • Severe acidosis • Congestive heart failure ...
... • Progressive cyanosis and hypoxemia • Hx of poor feeding, tachypnea and poor weight gain • Cardiovascular shock • Severe acidosis • Congestive heart failure ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... infant. The incidence of scimitar syndrome is 1-3/100,000 live births [1,6]. However, its true incidence may be much higher in view of some asymptomatic cases. The disease often presents in early infancy but may present later in childhood or rarely in adults. In infants it usually presents with tach ...
... infant. The incidence of scimitar syndrome is 1-3/100,000 live births [1,6]. However, its true incidence may be much higher in view of some asymptomatic cases. The disease often presents in early infancy but may present later in childhood or rarely in adults. In infants it usually presents with tach ...
Aortic Stenosis and Hypertension
... Thus, acute changes in blood pressure can significantly alter these indices as a consequence of concomitant changes in transvalvular flow. Systemic arterial hypertension may result in an increase in systolodiastolic hypertension, a decrease in aortic compliance, or both.3 On the other hand it is not ...
... Thus, acute changes in blood pressure can significantly alter these indices as a consequence of concomitant changes in transvalvular flow. Systemic arterial hypertension may result in an increase in systolodiastolic hypertension, a decrease in aortic compliance, or both.3 On the other hand it is not ...
Down syndrome Associated with Epstein`s Anomaly and Pulmonary
... In children with Down syndrome (DS) there is higher chance for concomitant congenital heart defects and organic disorders. However Epstein’s anomaly is a rare association of DS. We report a 2.5 months DS boy that referred to our hospital with tachypnea. In echocardiography the septal leaflet displac ...
... In children with Down syndrome (DS) there is higher chance for concomitant congenital heart defects and organic disorders. However Epstein’s anomaly is a rare association of DS. We report a 2.5 months DS boy that referred to our hospital with tachypnea. In echocardiography the septal leaflet displac ...
Open surgery for thoracic aortic disease
... Acute dissection is the most common catastrophe to affect the aorta, occurring more frequently than rupture of the abdominal aorta. Dissection of the ascending aorta, with or without involvement of the descending thoracic aorta, is known as Stanford type A. Type B involves the descending thoracic ao ...
... Acute dissection is the most common catastrophe to affect the aorta, occurring more frequently than rupture of the abdominal aorta. Dissection of the ascending aorta, with or without involvement of the descending thoracic aorta, is known as Stanford type A. Type B involves the descending thoracic ao ...
Health Care Management of Adults with Down Syndrome
... *—Common medical problems, as well as special medical problems, may affect the person with Down syndrome. It cannot be assumed that a problem is due solely to the condition of Down syndrome. †—Examine by auscultation for mitral valve prolapse and aortic regurgitation. If suspected, obtain an echocar ...
... *—Common medical problems, as well as special medical problems, may affect the person with Down syndrome. It cannot be assumed that a problem is due solely to the condition of Down syndrome. †—Examine by auscultation for mitral valve prolapse and aortic regurgitation. If suspected, obtain an echocar ...
Editorial Personal reflections on the Sticky Platelet
... the risk of thrombosis event in humans. In our studies, we have confirmed for the first time that the SPS has probably the polygenic mode of inheritance. Each gene locus had an independent effect on a single phenotype. Therefore, hyperagregability is a phenotypic expression of several inherited gene ...
... the risk of thrombosis event in humans. In our studies, we have confirmed for the first time that the SPS has probably the polygenic mode of inheritance. Each gene locus had an independent effect on a single phenotype. Therefore, hyperagregability is a phenotypic expression of several inherited gene ...
Aortic Dissection Involving the Ostium of Left Main Coronary Artery
... evaluation for AAD, primarily because of its inadequacy in visualizing the distal ascending and descending aorta. Transesophageal echocardiography overcomes many of the limitations of TTE because of the proximity of the esophagus to the aorta. It also is widely available, relatively safe, and easy t ...
... evaluation for AAD, primarily because of its inadequacy in visualizing the distal ascending and descending aorta. Transesophageal echocardiography overcomes many of the limitations of TTE because of the proximity of the esophagus to the aorta. It also is widely available, relatively safe, and easy t ...
ID_3183_Organism as a level of life or_English_sem_1
... Cri-du-chat syndrome, Klinefelter syndrome, triplo-X- syndrome Klinefelter syndrome, triplo-X- syndrome, Supermale syndrome Incheritance of a dominant autosomal disorder differs from incheritance of an autosomal recessive disorder in that: A Dominant disorder may be passed on only if both parents ar ...
... Cri-du-chat syndrome, Klinefelter syndrome, triplo-X- syndrome Klinefelter syndrome, triplo-X- syndrome, Supermale syndrome Incheritance of a dominant autosomal disorder differs from incheritance of an autosomal recessive disorder in that: A Dominant disorder may be passed on only if both parents ar ...
Volume 11 - Número 6 - Novembro / Dezembro de 2001
... analyses of numerous cases that do not meet the diagnosis criteria for Marfan syndrome also show mutations in the FBN1 gene. Therefore, the group of diseases caused by mutations in the FBN1 gene are now recognized as the fibrillinopathies. They include Marfan syndrome (OMIM #154700), annuloaortic ec ...
... analyses of numerous cases that do not meet the diagnosis criteria for Marfan syndrome also show mutations in the FBN1 gene. Therefore, the group of diseases caused by mutations in the FBN1 gene are now recognized as the fibrillinopathies. They include Marfan syndrome (OMIM #154700), annuloaortic ec ...
Icd 10 severe aortic stenosis
... stenosis? Aortic valve stenosis is a narrowing of the aortic valve. The aortic valve allows blood to flow from the heart's lower left chamber. Complete review of aortic stenosis symptoms, causes, dangers and surgical treatment options for patients and caregivers. Short description: Mitral/aortic val ...
... stenosis? Aortic valve stenosis is a narrowing of the aortic valve. The aortic valve allows blood to flow from the heart's lower left chamber. Complete review of aortic stenosis symptoms, causes, dangers and surgical treatment options for patients and caregivers. Short description: Mitral/aortic val ...
AORTIC ANEURYSMS AND DISSECTION Aorta is about 1 inch or 2
... ii. IV sodium nitroprusside to lower systolic BP < 120 b. Type A (proximal) – surgical management c. Type B (distal) – medical management Coarctation of Aorta A. Patho/Causes a. Associated with Turner’s syndrome in women b. Narrowing/constriction of aorta, usually at origin of left subclavian artery ...
... ii. IV sodium nitroprusside to lower systolic BP < 120 b. Type A (proximal) – surgical management c. Type B (distal) – medical management Coarctation of Aorta A. Patho/Causes a. Associated with Turner’s syndrome in women b. Narrowing/constriction of aorta, usually at origin of left subclavian artery ...
Fact Sheet: Aortic Stenosis
... valve, but only approximately two-thirds of them undergo the procedure each year. Many patients are not treated because they are deemed inoperable for surgery, have not received a definitive diagnosis, or because they delay or decline the procedure for a variety of reasons. Patients who do not recei ...
... valve, but only approximately two-thirds of them undergo the procedure each year. Many patients are not treated because they are deemed inoperable for surgery, have not received a definitive diagnosis, or because they delay or decline the procedure for a variety of reasons. Patients who do not recei ...
TITLE: Otolaryngological Congenital Abnormalites: Visual
... Considered the most common cause of intellectual disability today, Down syndrome was first described in 1866 by John Langdon Down but its etiology was not discovered until 1959 by Jerome Lejeune and Patricia Jacobs. The genetic basis for this condition is the inheritance of a third chromosome 21 lea ...
... Considered the most common cause of intellectual disability today, Down syndrome was first described in 1866 by John Langdon Down but its etiology was not discovered until 1959 by Jerome Lejeune and Patricia Jacobs. The genetic basis for this condition is the inheritance of a third chromosome 21 lea ...
Superior vena cava syndrome caused by a - Heart
... graft was used to reanastomose the left coronary artery. The aortic valve prosthesis and the aortic graft were considered to be functional and were left in situ. The native aortic wall was partially resected and not wrapped around the graft. The postoperative course was uneventful. Ten days after ad ...
... graft was used to reanastomose the left coronary artery. The aortic valve prosthesis and the aortic graft were considered to be functional and were left in situ. The native aortic wall was partially resected and not wrapped around the graft. The postoperative course was uneventful. Ten days after ad ...
Barth Syndrome FAQs - Barth Syndrome Foundation
... Growth Delay (often mistaken to be failure to thrive)-During childhood most affected individuals are below-average in height and weight. 3 Methylglutaconic aciduria - An increase in an organic acid that can be measured in urine that result in abnormal mitochondria function (the “powerhouses” or ...
... Growth Delay (often mistaken to be failure to thrive)-During childhood most affected individuals are below-average in height and weight. 3 Methylglutaconic aciduria - An increase in an organic acid that can be measured in urine that result in abnormal mitochondria function (the “powerhouses” or ...
Aortic Aneurysms - Richard Bowman MD
... The Aorta is the largest artery in the body. It arises in the left ventricle of the heart, goes up a little ways (ascends) then arches and goes down through the chest (descends). It then goes through the abdomen where it divides into 2 common iliac arteries that go to the legs. The diaphragm divides ...
... The Aorta is the largest artery in the body. It arises in the left ventricle of the heart, goes up a little ways (ascends) then arches and goes down through the chest (descends). It then goes through the abdomen where it divides into 2 common iliac arteries that go to the legs. The diaphragm divides ...
Persistent Native Aortic Valve Function
... native aortic valve after TAVR has not been reported. Mediastinal radiotherapy is an established risk factor for the development of a variety of cardiovascular diseases that affect the coronary arteries, pericardium, myocardium, conduction system, and myocardial valves.1,2 The prevalence of radiatio ...
... native aortic valve after TAVR has not been reported. Mediastinal radiotherapy is an established risk factor for the development of a variety of cardiovascular diseases that affect the coronary arteries, pericardium, myocardium, conduction system, and myocardial valves.1,2 The prevalence of radiatio ...
Bicuspid Aortic Valve
... lining of the blood vessels in the body including the aorta. This can increase the chance of developing an aneurysm. As this occurs, the walls of the vessel begin to thin and deteriorate. The walls may become weak, thin and unstable which could in turn lead to an aneurysm. The inner or outer layers ...
... lining of the blood vessels in the body including the aorta. This can increase the chance of developing an aneurysm. As this occurs, the walls of the vessel begin to thin and deteriorate. The walls may become weak, thin and unstable which could in turn lead to an aneurysm. The inner or outer layers ...
Atrial Septal Defect Coexistent with Sjögren`s Syndrome
... autoimmune polyendocrine syndrome.4 However, exact explanation of the association of ASD with autoimmune polyendocrine syndrome was not found. Recently, Buyon et al. proposed the possible mechanism of association of ASD in primary SS in infants.10 According to them, intracellular SSA/Ro antigens are ...
... autoimmune polyendocrine syndrome.4 However, exact explanation of the association of ASD with autoimmune polyendocrine syndrome was not found. Recently, Buyon et al. proposed the possible mechanism of association of ASD in primary SS in infants.10 According to them, intracellular SSA/Ro antigens are ...
METHODS Experimental animals Experiments were performed in 12
... was placed along the contour of the aorta and marked at the tips of the two pressure transducers. The distance between the two marks, (L) was then measured. PWV was calculated by dividing the distance (L) by the propagation time (t). The propagation time was determined using the manual foot-to-foot ...
... was placed along the contour of the aorta and marked at the tips of the two pressure transducers. The distance between the two marks, (L) was then measured. PWV was calculated by dividing the distance (L) by the propagation time (t). The propagation time was determined using the manual foot-to-foot ...
Turner syndrome
Turner syndrome (TS) also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often.Turner syndrome is not usually inherited from a person's parents. No environmental risks are known and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally. People with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.