Marfan Syndrome Guide
... is an inherited condition. Pregnant women with Marfan syndrome are considered highrisk cases. If the aorta is normal size, the risk of dissection is lower, but still exists. Even a slight enlargement of the aorta causes a greater risk, and the stress of pregnancy can cause the dilation to progress f ...
... is an inherited condition. Pregnant women with Marfan syndrome are considered highrisk cases. If the aorta is normal size, the risk of dissection is lower, but still exists. Even a slight enlargement of the aorta causes a greater risk, and the stress of pregnancy can cause the dilation to progress f ...
Brugada electrocardiographic phenocopy in a patient with chronic
... In the presented case, the patient had no history of sudden death, syncope or arrhythmia. There was no family history of Brugada syndrome. He was on no medication capable of inducing a Brugada phenocopy and had no electrolyte imbalance. The patient had a conduction disorder (LPFB + + complete RBBB) ...
... In the presented case, the patient had no history of sudden death, syncope or arrhythmia. There was no family history of Brugada syndrome. He was on no medication capable of inducing a Brugada phenocopy and had no electrolyte imbalance. The patient had a conduction disorder (LPFB + + complete RBBB) ...
Marfan Syndrome Guide
... What causes Marfan syndrome? Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1. In most cases, Marfan syndrome is inherited. The pattern is called “autosom ...
... What causes Marfan syndrome? Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1. In most cases, Marfan syndrome is inherited. The pattern is called “autosom ...
Diagnosis and Treatment of Sick Sinus Syndrome -
... when they are having symptoms. For this procedure to be successful, the arrhythmia must last for at least one minute. Another approach is to have patients activate a recording device to monitor the events of cardiac dysrhythmias when they are having symptoms.2 There are several other methods of diag ...
... when they are having symptoms. For this procedure to be successful, the arrhythmia must last for at least one minute. Another approach is to have patients activate a recording device to monitor the events of cardiac dysrhythmias when they are having symptoms.2 There are several other methods of diag ...
STICKLER SYNDROME - Stickler Involved People
... midface. In Marshall syndrome, there are thick calvaria, abnormal frontal sinuses, and intracranial calcifications, and the globes of the eye appear large, possibly because of a shallow orbit. In affected members of a large kindred diagnosed with Marshall syndrome, Griffith et al. (1998) identified ...
... midface. In Marshall syndrome, there are thick calvaria, abnormal frontal sinuses, and intracranial calcifications, and the globes of the eye appear large, possibly because of a shallow orbit. In affected members of a large kindred diagnosed with Marshall syndrome, Griffith et al. (1998) identified ...
Sick Sinus Syndrome: A Review
... strongly suspected but no arrhythmia has been demonstrated that correlates with symptoms after prolonged cardiac monitoring.7 The rhythm abnormalities of sick sinus syndrome occasionally are detected or suspected as an incidental finding during evaluation and treatment of other cardiac conditions.36 ...
... strongly suspected but no arrhythmia has been demonstrated that correlates with symptoms after prolonged cardiac monitoring.7 The rhythm abnormalities of sick sinus syndrome occasionally are detected or suspected as an incidental finding during evaluation and treatment of other cardiac conditions.36 ...
Flecainide - Cardiogenetica
... leads. Furthermore, these gradients may elicit reentrant tachyarrhythmias. ...
... leads. Furthermore, these gradients may elicit reentrant tachyarrhythmias. ...
Turner syndrome: update on biology and management across the
... Placentas with Turner syndrome have not been examined for such cryptic mosaicism. Absence or structural abnormality of the second X chromosome is associated with marked phenotypic diversity. This could result from mosaicism, incomplete X inactivation, X chromosome imprinting, and gene-dosage effects ...
... Placentas with Turner syndrome have not been examined for such cryptic mosaicism. Absence or structural abnormality of the second X chromosome is associated with marked phenotypic diversity. This could result from mosaicism, incomplete X inactivation, X chromosome imprinting, and gene-dosage effects ...
Guidelines for the diagnosis and management of Brugada Syndrome
... cove-shaped ST elevation in leads V1 to V3, in the absence of obvious structural heart disease, electrolyte disturbances or ischaemia. This condition is genetically transmitted as an autosomal dominant syndrome with incomplete penetrance. BS is reported to be responsible for 4% of all sudden deaths ...
... cove-shaped ST elevation in leads V1 to V3, in the absence of obvious structural heart disease, electrolyte disturbances or ischaemia. This condition is genetically transmitted as an autosomal dominant syndrome with incomplete penetrance. BS is reported to be responsible for 4% of all sudden deaths ...
Bijlage 1 - Steungroep ME en Arbeidsongeschiktheid
... Kornish, J., Ware, NC., Ware, JE and Bates, DW. Health status in patients with chronic fatigue syndrome and in general population and disease comparison groups. American Journal of Medicine, 1996, 101, 3, 281-290. (This shows that the level of disability associated with CFS is higher than that docum ...
... Kornish, J., Ware, NC., Ware, JE and Bates, DW. Health status in patients with chronic fatigue syndrome and in general population and disease comparison groups. American Journal of Medicine, 1996, 101, 3, 281-290. (This shows that the level of disability associated with CFS is higher than that docum ...
Wolff-Parkinson-White Syndrome: An Uncommon Cause of
... alpitations are a common presenting symptom in the emergency department (ED). Typically, the cause of palpitations is benign, especially in otherwise young, healthy patients. For example, premature atrial contractions, infrequent premature ventricular contractions, and sinus tachycardia may be cause ...
... alpitations are a common presenting symptom in the emergency department (ED). Typically, the cause of palpitations is benign, especially in otherwise young, healthy patients. For example, premature atrial contractions, infrequent premature ventricular contractions, and sinus tachycardia may be cause ...
Neuro Oncology: Neuroradiology
... neuroimaging findings include atrophy of the brain stem, cerebellum, and middle cerebellar peduncles. • Ito et al describe a case of Wolfram Syndrome demonstrating moderate atrophy of the brain stem and middle cerebellar peduncle with mild atrophy of the cerebellum, as well as atrophy of the infraor ...
... neuroimaging findings include atrophy of the brain stem, cerebellum, and middle cerebellar peduncles. • Ito et al describe a case of Wolfram Syndrome demonstrating moderate atrophy of the brain stem and middle cerebellar peduncle with mild atrophy of the cerebellum, as well as atrophy of the infraor ...
Cardiac Channelopathies and Sudden Death: Recent Clinical and
... heart, which could underlie the pathogenesis of BrS-pattern ECG [42]. KCNE5 is located on the X chromosome and encodes an auxiliary β subunit for K channels. Mutations in KCNE5 cause modifications to potassium channels that lead to an increase in the Ito current and have been linked to BrS [43]. Fun ...
... heart, which could underlie the pathogenesis of BrS-pattern ECG [42]. KCNE5 is located on the X chromosome and encodes an auxiliary β subunit for K channels. Mutations in KCNE5 cause modifications to potassium channels that lead to an increase in the Ito current and have been linked to BrS [43]. Fun ...
Cardiovascular Malformations and Complications in Turner Syndrome
... It is well established that Coarct, BAV, and HBP are associated with a risk for aortic dissection in populations without Turner syndrome.53 Hirst et al,54 in a report on their patients and a review of the literature, found coarctation in 9% to 23%, BAV in 23% to 42%, and HBP in 63% of cases of aorti ...
... It is well established that Coarct, BAV, and HBP are associated with a risk for aortic dissection in populations without Turner syndrome.53 Hirst et al,54 in a report on their patients and a review of the literature, found coarctation in 9% to 23%, BAV in 23% to 42%, and HBP in 63% of cases of aorti ...
Marfan syndrome: from molecular pathogenesis to clinical treatment
... most exciting developments in the past two years of Marfan syndrome research and discusses their impact on the clinical management of this and related conditions, including more common and non-syndromic presentations of Marfan syndrome. ...
... most exciting developments in the past two years of Marfan syndrome research and discusses their impact on the clinical management of this and related conditions, including more common and non-syndromic presentations of Marfan syndrome. ...
Camera-Ready Format
... statistical confirmation; The selected patients were not 100% representative (due to the small number); We used only few recordings from one patient, so the WPW syndrome could manifest in other way (it could change its behavior hourly). ...
... statistical confirmation; The selected patients were not 100% representative (due to the small number); We used only few recordings from one patient, so the WPW syndrome could manifest in other way (it could change its behavior hourly). ...
Williams syndrome deficits in visual spatial Chromosome 7q11.23
... study.31–33 These three cases became the focus of our study and a summary of their features is shown in Table 1. Case 1 is a Japanese female who weighed 38 kg (!2SD) and measured 150 cm (!2SD) in height upon physical exam at 23 years of age. She had initially presented with cardiovascular anomalies ...
... study.31–33 These three cases became the focus of our study and a summary of their features is shown in Table 1. Case 1 is a Japanese female who weighed 38 kg (!2SD) and measured 150 cm (!2SD) in height upon physical exam at 23 years of age. She had initially presented with cardiovascular anomalies ...
Further Reading
... and the same el®n facial features in patients. For a time, it was considered a genetic disorder of unknown ...
... and the same el®n facial features in patients. For a time, it was considered a genetic disorder of unknown ...
00_Pg garda_q.cdr
... Left heart obstructions might be located at multiple levels. The authors present the case of a 7 months male infant referred for a lower respiratory tract infection with signs of cardio-respiratory failure. The echocardiografic examination identified an aortic coarctation associated to other signs o ...
... Left heart obstructions might be located at multiple levels. The authors present the case of a 7 months male infant referred for a lower respiratory tract infection with signs of cardio-respiratory failure. The echocardiografic examination identified an aortic coarctation associated to other signs o ...
PDF - Circulation
... (with a long half-life), the choice of phenytoin to treat the daughter seemed reasonable. More recently, both mexiletine and ranolazine have shown to be effective in LQT3, although they have no role in the management of seizures from other etiologies.1 Despite improvement in the daughter’s seizure f ...
... (with a long half-life), the choice of phenytoin to treat the daughter seemed reasonable. More recently, both mexiletine and ranolazine have shown to be effective in LQT3, although they have no role in the management of seizures from other etiologies.1 Despite improvement in the daughter’s seizure f ...
KAT6A Syndrome - Rarechromo.org
... A number of children with KAT6A syndrome are reported to have frequent infections. These are typically chest infections, urinary infections and ear infections, all of which commonly occur in childhood but may occur more frequently in some children with KAT6A syndrome. There are several reasons why t ...
... A number of children with KAT6A syndrome are reported to have frequent infections. These are typically chest infections, urinary infections and ear infections, all of which commonly occur in childhood but may occur more frequently in some children with KAT6A syndrome. There are several reasons why t ...
KAT6A Syndrome - Rarechromo.org
... A number of children with KAT6A syndrome are reported to have frequent infections. These are typically chest infections, urinary infections and ear infections, all of which commonly occur in childhood but may occur more frequently in some children with KAT6A syndrome. There are several reasons why t ...
... A number of children with KAT6A syndrome are reported to have frequent infections. These are typically chest infections, urinary infections and ear infections, all of which commonly occur in childhood but may occur more frequently in some children with KAT6A syndrome. There are several reasons why t ...
Reverse Takotsubo Cardiomyopathy
... The clinical presentation of stress-induced cardiomyopathy is similar to that of acute coronary syndrome: in regard to ECG changes, ST elevations in the anterolateral leads are the most common manifestation.17 Our patient had ST depressions in the anterolateral leads that were consistent with the re ...
... The clinical presentation of stress-induced cardiomyopathy is similar to that of acute coronary syndrome: in regard to ECG changes, ST elevations in the anterolateral leads are the most common manifestation.17 Our patient had ST depressions in the anterolateral leads that were consistent with the re ...
Sick Sinus Syndrome: 21 Years Follow-Up
... An electrocardiogram recorded during 1978 showed sinus irregularity with nodal escape activity. He died, in an air crash during 1979. Discussion SSS has existed undiscovered due to low specificity of the clinical symptoms and low sensitivity of morphological patterns. The term sick sinus was coined ...
... An electrocardiogram recorded during 1978 showed sinus irregularity with nodal escape activity. He died, in an air crash during 1979. Discussion SSS has existed undiscovered due to low specificity of the clinical symptoms and low sensitivity of morphological patterns. The term sick sinus was coined ...
Williams syndrome
Williams syndrome (WS), also known as Williams–Beuren syndrome (WBS), is a rare neurodevelopmental disorder characterized by: a distinctive, ""elfin"" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient high blood calcium.It is caused by a deletion of about 26 genes from the long arm of chromosome 7. It occurs in 1 in 7,500 to 1 in 20,000 births. The syndrome was first identified in 1961 by New Zealander J.C.P. Williams.