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  • Marfan Syndrome Support Group Ireland
    Marfan Syndrome is known to affect the Cardiovascular System Heart and Blood Vessels Aortic dilation or aneurysm Aortic dissection Mitral Valve Prolapse Skeletal System Bones and Joints Showing as longer than average arms and legs armspan longer than height tall and thin stature Scoliosis or Kyphosis Pectus Excavatum or Pectus Carinatum Long thin fingers and toes Hypermobile joints Flat feet Overcrowding of teeth Ocular System Eyes Severe Myopia Dislocated Lenses Detached Retina Glaucoma and Cataracts can also be found earlier than is the norm The following can also be found unexplained stretch marks Straie sudden collapse of the lung Dural Ectasia What is Marfan Syndrome As stated above Marfan Syndrome is a disorder of the Connective Tissue Connective tissue forms the glue between cells in the body s tissues holding the cells together and giving those tissues structure and shape It is made of a number of different molecules including a range of fibres which give strength and elasticity to many tissues This tissue provides the stretchy strength of tendons and ligaments around joints and allows the muscular blood vessel walls to expand and contract with every heart beat It is also important in eye and lung In Marfan Syndrome a protein called fibrillin is deficient or abnormal Fibrillin is part of the elastic fibres accounting for the unusual stretchiness and weakness of tissues The fibres which hold the lens of the eye in place are made of fibrillin so abnormal or deficient fibrillin explains the dislocation of the lens seen in Marfan Syndrome A mutation error in the fibrillin gene on chromosome 15 is said to be responsible for the diminished fibrillin production or production of abnormal fibrillin molecules which cannot function properly In This Section About Marfan Syndrome How is Marfan Syndrome diagnosed Antoine Marfan What is Loeys

    Original URL path: http://marfan.ie/index.php?id=2 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    empowers the person to make informed choices regarding their care Research is presently being undertaken into the genetic origin of Marfan Syndrome This Specialist Out Patient public clinic for patients with Marfan Syndrome is in the Mater Misericordiae University Hospital Dublin Prof J Mark Redmond Consultant Cardiothoracic Surgeon and Dr Kevin Walsh Consultant Cardiologist jointly attend this clinic A separate consultation occurs with Rhona Savage Clinical Nurse Specialist in Congenital Heart Disease The Nurse Specialist provides information in relation to Marfan Syndrome and how this affects each patient To access this service a referral letter should be sent from your present Cardiologist or G P to the following address Prof J Mark Redmond Consultant Cardiothoracic Surgeon Mater Misericordiae University Hospital Eccles Street Dublin 7 These letters will be reviewed by the consultant who prioritises the request The consultants secretary then informs the patient in writing of the appointment For more information please contact Secretary to Prof J Mark Redmond on 01 803 2270 or Rhona Savage Congenital Heart CNS on 01 803 4701 In This Section Marfan Clinic Information Medical problems associated with Marfan Syndrome Marfan Syndrome and the Eye Surgical Treatments for Connective Tissue Disorders Treatment and General Advice

    Original URL path: http://marfan.ie/index.php?id=50 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    Out if You Have Marfan Syndrome PDF How to Care for Cardiovascular Problems PDF Marfan Feet PDF Marfan Syndrome Diagnostic Criteria PDF Marfan Syndrome Facts PDF Skeletal Features How Marfan Syndrome Affects Bones and Joints PDF Cardiovascular Features Common Types of Heart and Blood Vessel Problems in People with Marfan Syndrome PDF Marfan Syndrome Diagnostic Criteria by Body System PDF Marfan Syndrome How to Care for Cardiovascular Problems PDF Marfan Syndrome Surgery to Repair the Aortic Root PDF Scoliosis and Marfan Syndrome PDF Is It Loeys Dietz Syndrome or Marfan Syndrome PDF Why a Correct Diagnosis Is Important How to Find Out if You Have Loeys Dietz Syndrome PDF Loeys Dietz Syndrome Facts PDF Loeys Dietz Syndrome Orthopedic Care PDF Care of the Bones and Joints In This Section Publications Service Times Directions Weekend Masses in English Saturday Morning 8 00 am Saturday Vigil 4 30 pm Sunday 7 30 am 9 00 am 10 45 am 12 30 pm 5 30 pm Weekend Masses In Español Saturday Vigil 6 15pm Sunday 9 00am 7 15pm Weekday Morning Masses Monday Tuesday Thursday Friday 8 30 am View larger map 6654 Main Street Cincinnati OH 45202 513 555 7856 My Stories

    Original URL path: http://marfan.ie/index.php?id=10 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    C armichael House North Brunswick Street Dublin 7 C By Bank Transfer Contact us by e mail for bank details members marfan ie In This Section Membership Service Times Directions Weekend Masses in English Saturday Morning 8 00 am Saturday Vigil 4 30 pm Sunday 7 30 am 9 00 am 10 45 am 12 30 pm 5 30 pm Weekend Masses In Español Saturday Vigil 6 15pm Sunday 9

    Original URL path: http://marfan.ie/index.php?id=14 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    Directions Weekend Masses in English Saturday Morning 8 00 am Saturday Vigil 4 30 pm Sunday 7 30 am 9 00 am 10 45 am 12 30 pm 5 30 pm Weekend Masses In Español Saturday Vigil 6 15pm Sunday 9 00am 7 15pm Weekday Morning Masses Monday Tuesday Thursday Friday 8 30 am View larger map 6654 Main Street Cincinnati OH 45202 513 555 7856 My Stories Rachel s

    Original URL path: http://marfan.ie/index.php?id=38 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    scoliosis etc Echocardiogram ECHO carried out by a Cardiologist This test is an ultra sound on the heart Pictures and measurements are taken of the size of the Aorta at different points usually the root at the heart arch at the neck and abdomen A sound recording of the working of the Mitral Valve is also taken This helps the Cardiologist decide on the best course of treatment for the heart MRI or CT scan An electro cardiogram ECG is not adequate screening Slit lamp eye examination by an ophthalmologist eye specialist Skeletal examination Genetic testing is possible but this is usually only carried out if there is a strong possibility of Marfan Syndrome There are a very large number of possible mutations so not all cases of clinically confirmed Marfan Syndrome will return with a positive genetic test In This Section About Marfan Syndrome How is Marfan Syndrome diagnosed Antoine Marfan What is Loeys Dietz Syndrome Service Times Directions Weekend Masses in English Saturday Morning 8 00 am Saturday Vigil 4 30 pm Sunday 7 30 am 9 00 am 10 45 am 12 30 pm 5 30 pm Weekend Masses In Español Saturday Vigil 6 15pm Sunday 9

    Original URL path: http://marfan.ie/index.php?id=25 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    receptor 1 and transforming growth factor beta receptor 2 TGFBR 1 and TGFBR 2 SMAD3 TGF Beta2 and TGF Beta 3 As with Marfan syndrome it is an autosominal dominant disorder meaning an affected person has a 50 50 chance of passing directly to children The syndrome does not skip generations Again similarly to Marfan syndrome it is expected that 75 of cases are directly inherited and 25 are spontaneous mutation first occurrence in the family Loeys Dietz Syndrome is known to affect the Cardiovascular System Heart and Blood Vessels Aortic dilation or aneurysm Aortic dissection Mitral Valve Prolapse Unlike with Marfan Syndrome Loeys Dietz Syndrome affects the main arteries throughout the body including the brain This means that aneurysms can be found outside of the Aorta Congenital heart defects such as PDA can also be linked to Loeys Dietz Syndrome Skeletal System Bones and Joints Tall and thin stature Scoliosis or Kyphosis Pectus Excavatum or Pectus Carinatum Long fingers and toes Hypermobile joints Flat feet Overcrowding of teeth cleft palate split uvula craniofacial deformities flat cheekbones blue tinge to the white of the eyes early fusion of skull bones small chin Ocular System Eyes Severe Myopia wide spaced eyes blue sclera white of eyes with a blue tinge The following can also be found Dural Ectasia wide stretched scarring soft and translucent skin easy bruising hernias Research is also currently being carried out into a possible link between allergies and gastrointestinal problems in patients with Loeys Dietz Syndrome The intestine spleen and uterus may be prone to rupture In This Section About Marfan Syndrome How is Marfan Syndrome diagnosed Antoine Marfan What is Loeys Dietz Syndrome Service Times Directions Weekend Masses in English Saturday Morning 8 00 am Saturday Vigil 4 30 pm Sunday 7 30 am 9 00

    Original URL path: http://marfan.ie/index.php?id=43 (2015-10-30)
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  • Marfan Syndrome Support Group Ireland
    heart contracts mitral valve prolapse This can lead to leakage of blood back through the mitral valve or irregular heart rhythm Skeletal Effects on the skeleton include curvature of the spine scoliosis Pectus Carinatum Pigeon or Pectus Excavatum Funnel chest Tall stature not always and loose jointedness Arm span usually greater than height and legs and fingers are also long Patients may have flat feet Dural ectasia bulging of the skin which protects the spine can sometimes present a problem Eyes The major eye problem is dislocation of the ocular lens People with MFS are generally near sighted or myopic They may suffer from retinal detachment Lungs Spontaneous collapse of the lung pneumothorax with breathlessness and chest pain may occur This problem requires prompt attention but is not usually life threatening Characteristics of the disorder vary greatly among affected individuals even among the same family In This Section Marfan Clinic Information Medical problems associated with Marfan Syndrome Marfan Syndrome and the Eye Surgical Treatments for Connective Tissue Disorders Treatment and General Advice for Marfan Syndrome Patients Diagnosis Treatment and General Advice for Loeys Dietz Syndrome Atenolol v s Losartan Trial Results Service Times Directions Weekend Masses in English Saturday Morning

    Original URL path: http://marfan.ie/index.php?id=37 (2015-10-30)
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