Standard of Care: Marfan Syndrome
... Case Type / Diagnosis: Marfan Syndrome is an autosomal dominant disorder of connective tissue with manifestations variably involving the cardiovascular, ocular, musculoskeletal, and other systems. It affects approximately 1 in 5000 people. Involvement of the cardiovascular system, particularly aorti ...
... Case Type / Diagnosis: Marfan Syndrome is an autosomal dominant disorder of connective tissue with manifestations variably involving the cardiovascular, ocular, musculoskeletal, and other systems. It affects approximately 1 in 5000 people. Involvement of the cardiovascular system, particularly aorti ...
a hint of the same genetic defect as in Fechtner syndrome
... Italian Fechtner family, with 8 chromosome 22 markers. Recombinant events in patients II-4, III-2, III-8, IV-1, and IV-2 established D22S693 and D22S282 as the centromeric and telomeric boundaries of the interval containing the diseasecausing gene, respectively. Figure 2 shows typing results for SPS ...
... Italian Fechtner family, with 8 chromosome 22 markers. Recombinant events in patients II-4, III-2, III-8, IV-1, and IV-2 established D22S693 and D22S282 as the centromeric and telomeric boundaries of the interval containing the diseasecausing gene, respectively. Figure 2 shows typing results for SPS ...
Congenital Heart Diseases II
... Most patients reaching adulthood have NYHA I/II symptoms over the next 25 years. 50% develop moderate systolic dysfunction of the RV but only few present with CHF. 1/3rd have severe systemic TR. Atrial flutter arises in 20% by age 20. 50% patients have sinus node dysfunction by age 20. Baffle leak o ...
... Most patients reaching adulthood have NYHA I/II symptoms over the next 25 years. 50% develop moderate systolic dysfunction of the RV but only few present with CHF. 1/3rd have severe systemic TR. Atrial flutter arises in 20% by age 20. 50% patients have sinus node dysfunction by age 20. Baffle leak o ...
Nutcracker syndrome: intravascular stenting approach
... less common condition of left flank pain and haematuria associated with LRV hypertension and pelviureteral varices. The present case had suffered from left varicocele, but the underlying cause was not sought. Haematuria may result from increased LRV pressure causing minute rupture of thin-walled vei ...
... less common condition of left flank pain and haematuria associated with LRV hypertension and pelviureteral varices. The present case had suffered from left varicocele, but the underlying cause was not sought. Haematuria may result from increased LRV pressure causing minute rupture of thin-walled vei ...
Postural Tachycardia Syndrome and Hypermobility Syndrome
... catecholamine levels and baroreflex testing. 78% of JHS pts demonstrated Orthostatic intolerance and abnormal autonomic testing (on every one of the tests mentioned above), as compared to 10% of control subjects They concluded that JHS/EDS III predisposed people to develop OI ...
... catecholamine levels and baroreflex testing. 78% of JHS pts demonstrated Orthostatic intolerance and abnormal autonomic testing (on every one of the tests mentioned above), as compared to 10% of control subjects They concluded that JHS/EDS III predisposed people to develop OI ...
Post-Cardiac Injury Syndrome after Permanent Pacemaker
... and post pericardiotomy syndrome (PPS). It is a common complication after cardiac surgery and the reported incidence varies from 10% to 50%.1 In 1959, William Dressler2 first described the pericarditis-like presentation which developed days to weeks after myocardial infarction, and the autoantigens- ...
... and post pericardiotomy syndrome (PPS). It is a common complication after cardiac surgery and the reported incidence varies from 10% to 50%.1 In 1959, William Dressler2 first described the pericarditis-like presentation which developed days to weeks after myocardial infarction, and the autoantigens- ...
Phocomelia Syndrome - A Case Report
... amelia, phocomelia as well as minor deformities such as hypoplasia of the thumb and syndactyly. Sometimes, it was accompanied by other defects such as anotia, duodenal stenosis ...
... amelia, phocomelia as well as minor deformities such as hypoplasia of the thumb and syndactyly. Sometimes, it was accompanied by other defects such as anotia, duodenal stenosis ...
Metabolic syndrome and central retinal artery occlusion
... seen in a single person and might be explained by the metabolic syndrome. Case report. We presented the case of a 52-year-old man with no light perception in his right eye. The visual loss was monocular and painless, fundoscopy showed central retinal artery occlusion and the laboratory investigation ...
... seen in a single person and might be explained by the metabolic syndrome. Case report. We presented the case of a 52-year-old man with no light perception in his right eye. The visual loss was monocular and painless, fundoscopy showed central retinal artery occlusion and the laboratory investigation ...
Committee on Genetics 1996;98;978 Pediatrics
... for longevity. The use of f3 blockade has been shown to slow aortic dilatation and decrease risk of dissection. Initiation of therapy with f3-blocking agents should be made in consultation with a pediatric cardiologist.’4 ...
... for longevity. The use of f3 blockade has been shown to slow aortic dilatation and decrease risk of dissection. Initiation of therapy with f3-blocking agents should be made in consultation with a pediatric cardiologist.’4 ...
Cardiology Review Aortic Stenosis
... A 77-year-old woman is presented with syncope during her routine daily exercise. Her history is significant with several other episodes of syncope within the past 6 months. She has a systolic murmur that is best heard at the right upper sternal border. There is radiation of the murmur into the neck. ...
... A 77-year-old woman is presented with syncope during her routine daily exercise. Her history is significant with several other episodes of syncope within the past 6 months. She has a systolic murmur that is best heard at the right upper sternal border. There is radiation of the murmur into the neck. ...
Ocular Histoplasmosis Syndrome Ocular Histoplasmosis Syndrome
... sharp vision deteriorates and eventually, without treatment it can lead to complete blindness. Ocular histoplasmosis syndrome usually affects patients aged 20-50 years; the average age is 35 years. Risk Factors of the Syndrome Histoplasmosis Syndrome Histoplasmosis is a disease caused when airborne ...
... sharp vision deteriorates and eventually, without treatment it can lead to complete blindness. Ocular histoplasmosis syndrome usually affects patients aged 20-50 years; the average age is 35 years. Risk Factors of the Syndrome Histoplasmosis Syndrome Histoplasmosis is a disease caused when airborne ...
Persistent ductus arteriosus
... as commonly in men as in women. It is also associated with Turner’s syndrome. In more than 50% of cases, the aortic valve is bicuspid (and potentially stenotic or endocarditic). Other associations include patent ductus arteriosus, ventricular septal defect, mitral stenosis or regurgitation and circl ...
... as commonly in men as in women. It is also associated with Turner’s syndrome. In more than 50% of cases, the aortic valve is bicuspid (and potentially stenotic or endocarditic). Other associations include patent ductus arteriosus, ventricular septal defect, mitral stenosis or regurgitation and circl ...
Sudden cardiac death in apparently norma
... in 1991 in eight otherwise healthy patients with sudden and aborted cardiac death who had “right bundle branch block and persistent ST elevation in V1–V3”.23 The QT intervals were normal in these patients; it has been found subsequently that right bundle branch block is not an integral part of the s ...
... in 1991 in eight otherwise healthy patients with sudden and aborted cardiac death who had “right bundle branch block and persistent ST elevation in V1–V3”.23 The QT intervals were normal in these patients; it has been found subsequently that right bundle branch block is not an integral part of the s ...
Classic Bartter Syndrome information leaflet for patients and families
... What is Classic Bartter Syndrome? The kidneys, amongst many other things, are responsible for controlling the volume of body fluid and maintaining the level of important electrolytes such as potassium and sodium. Bartter Syndrome is a rare inherited condition that prevents the kidneys reabsorbing so ...
... What is Classic Bartter Syndrome? The kidneys, amongst many other things, are responsible for controlling the volume of body fluid and maintaining the level of important electrolytes such as potassium and sodium. Bartter Syndrome is a rare inherited condition that prevents the kidneys reabsorbing so ...
Slide 1 - LSU School of Medicine
... Congenital bowing and thinnning of long bone cortex Pseudoarthrosis of the tibia, fibula, femur, clavicle Disorders of bone growth Erosive bony defects by neurogenic tumor Scalloping of posterior margins of vertebral bodies ...
... Congenital bowing and thinnning of long bone cortex Pseudoarthrosis of the tibia, fibula, femur, clavicle Disorders of bone growth Erosive bony defects by neurogenic tumor Scalloping of posterior margins of vertebral bodies ...
Figure 1- Previous (post permanent pacemaker implantation )chest
... is stimulated, resulting in diaphragmatic pacing and the sensation of abdominal pulsations as in our case . As the leads are further wrapped around the generator, rhythmic arm twitching occurs when the brachial plexus is paced. Risk factors for this condition include elderly age group, obesity, fema ...
... is stimulated, resulting in diaphragmatic pacing and the sensation of abdominal pulsations as in our case . As the leads are further wrapped around the generator, rhythmic arm twitching occurs when the brachial plexus is paced. Risk factors for this condition include elderly age group, obesity, fema ...
Cardiometabolic Syndrome & Dr Dhafir A. Mahmood Dr. Nabil Sulaiman
... Global cardiometabolic risk represents the overall risk of developing type 2 diabetes and/or cardiovascular disease (including MI and stroke), which is due to a cluster of modifiable risk factors/markers These include classical risk factors such as smoking, high LDL, hypertension, elevated blood glu ...
... Global cardiometabolic risk represents the overall risk of developing type 2 diabetes and/or cardiovascular disease (including MI and stroke), which is due to a cluster of modifiable risk factors/markers These include classical risk factors such as smoking, high LDL, hypertension, elevated blood glu ...
aneurysms
... other contributors include: hereditary defects in structural components of the aorta (e.g., defective fibrillin production in Marfan disease affects elastic tissue synthesis) an altered balance of collagen degradation and synthesis mediated by local inflammatory infiltrates and the destructive prote ...
... other contributors include: hereditary defects in structural components of the aorta (e.g., defective fibrillin production in Marfan disease affects elastic tissue synthesis) an altered balance of collagen degradation and synthesis mediated by local inflammatory infiltrates and the destructive prote ...
Biochemistry - u.arizona.edu
... The aorta arises from the right ventricle and the pulmonary artery emanates from the left ventricle. This results in separation of systemic and pulmonary circulations. Failure of separation of embryonic truncus arteriosus into aorta and pulmonary artery. Single great artery with a VSD. ...
... The aorta arises from the right ventricle and the pulmonary artery emanates from the left ventricle. This results in separation of systemic and pulmonary circulations. Failure of separation of embryonic truncus arteriosus into aorta and pulmonary artery. Single great artery with a VSD. ...
九十一年六月分CPC 助猜三軍總醫院小兒科
... of right atrial and right ventricular enlargement usually is considered evidence of a significant left-to-right shunt and an indication for surgical closure of the ASD. Ideally, surgery is performed in children aged 2-4 years; however, surgery may be performed earlier if a child has evidence of CHF. ...
... of right atrial and right ventricular enlargement usually is considered evidence of a significant left-to-right shunt and an indication for surgical closure of the ASD. Ideally, surgery is performed in children aged 2-4 years; however, surgery may be performed earlier if a child has evidence of CHF. ...
Heterotaxy Hope Organization (H20)
... Asplenia or polysplenia in heterotaxy syndrome ▪ Spleen frequently affected in heterotaxy syndrome: ...
... Asplenia or polysplenia in heterotaxy syndrome ▪ Spleen frequently affected in heterotaxy syndrome: ...
2-Acyanotic CHD
... For subaortic stenosis it is reserved for gradients of 40-50mmHg because of it’s rapidly progressive nature. Balloon valvuloplasty is the treatment of choice. Treatment Aortic insufficiency & re-stenosis is likely after surgery and may require valve replacement. Activity should not be restricted in ...
... For subaortic stenosis it is reserved for gradients of 40-50mmHg because of it’s rapidly progressive nature. Balloon valvuloplasty is the treatment of choice. Treatment Aortic insufficiency & re-stenosis is likely after surgery and may require valve replacement. Activity should not be restricted in ...
... presents within the first 2 months of life with tachypnoea, failure to thrive and signs of heart failure. The infantile form is a severe form of the disease with major associated cardiac lesions, including atrial-septal defect, ventricular-septal defect, coarctation of aorta, patent ductus arteriosu ...
Student Name Course title Course code Institution of Affiliation
... An indwelling catheter will be used to monitor borderline symptomatic patients. Doubtful patients should have fasciotomy compared to delay treatment. Fasciotomy is the prophylactic release of pressure from the compartment before permanent damage takes place. Operation Management The gold standard is ...
... An indwelling catheter will be used to monitor borderline symptomatic patients. Doubtful patients should have fasciotomy compared to delay treatment. Fasciotomy is the prophylactic release of pressure from the compartment before permanent damage takes place. Operation Management The gold standard is ...
Case 5 Chest
... Physician 2007, 76: 987-994. Kumar et al. Robbins and Cotran Pathologic Basis of Disease, 8th ed. Philadelphia: ...
... Physician 2007, 76: 987-994. Kumar et al. Robbins and Cotran Pathologic Basis of Disease, 8th ed. Philadelphia: ...
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.