A third subtype of MEN2 is familial MTC only. [ 4 ] Presentation Patients may present with symptoms related to MTC, hyperparathyroidism, or phaeochromocytoma. [patient.info]

Presentation on theme: "Case Presentation- Marfan Syndrome"— Presentation transcript: 1 Case Presentation- Marfan Syndrome Agatha Stanek 2 Case presentation 13 year old female patient presents to clinic for routine check-up. [slideplayer.com]

Marfan Syndrome : is due to mutations in the gene for fibrillin a protein present in microfibrils. III. Ehlers-Danlos Syndrome: Type VI → due to mutation of gene coding Lysyl Hydroxylase. IV. [gradestack.com]

In addition, Loeys-Dietz syndrome patients often present in childhood with significant cardiovascular problems. [pubmed.ncbi.nlm.nih.gov]

• Pain

  […] on palpation of the anteromedial (or posteromedial) area of tibial crest No pain during activity or exercise 2 Pain after activity or exercise No pain during activity or exercise 3 Pain during activity or exercise Pain after activity or exercise 4 Pain [medical-dictionary.thefreedictionary.com]

  He reports that one hour ago he was climbing the stairs in his home when he suddenly developed excruciating chest pain. He describes the pain as ripping and radiating to the back. [medbullets.com]

  long thin fingers Pes planus: flat feet The most common clinical symptoms are low back pain, headache, weakness, and loss of sensation above and below the affected limb, occasional rectal pain and pain in the genital area.8 The symptoms are aggravated [slideplayer.com]

  We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. [ggc.org]

  Musculoskeletal pain may be related to muscle spasm and/or myofascial pain related to joint hypermobility. Interventions aimed at muscle relaxation and toning/strengthening muscles around lax joints may be helpful. [clinicaladvisor.com]

• Atrial Septal Defect

  Other features of Loeys-Dietz syndrome include: Cardiovascular Arteries that twist and wind (arterial tortuosity) Heart defects at birth (atrial septal defect, patent ductus arteriosis, bicuspid aortic valve) Eyes, Head and Neck Widely-spaced eyes (hypertelorism [marfan.org]

  Incidence of secondary pulmonary hypertension in adults with atrial septal or sinus venosus defects. Heart 1999;82:30. 15. Kirmani S, Tebben PJ, Lteif AN, et al. [samj.org.za]

  : 2000) 48(4) 233-243 Apr 2010 [Refereed] Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. [researchmap.jp]

• Inflammation

  […] to break) Other Allergies to food and elements in the environment Stomach and intestine problems, such as difficulty absorbing food and chronic (comes and goes but never really goes away) diarrhea, abdominal pain, and/or gastrointestinal bleeding and inflammation [marfan.org]

  […] of benign familial joint hypermobility syndrome (BFJHS) ( see Table 3 ), Ehlers–Danlos syndrome, Marfan syndrome and osteogenesis imperfecta iliotibial band syndrome; ITBS; iliotibial band friction syndrome; ITBFS overuse-associated, friction-induced inflammation [medical-dictionary.thefreedictionary.com]

• Surgical Procedure

  To prevent this, antibiotics may be needed prior to dental or surgical procedures. Ask your doctor whether you need antibiotics, and if so, how much and what kind should be taken. [webmd.com]

• Abdominal Pain

  pain, and/or gastrointestinal bleeding and inflammation Rupture of the spleen or bowel Rupture of the uterus during pregnancy When a person has these particular features, it is important to be evaluated for Loeys-Dietz syndrome. [marfan.org]

  Symptoms that can occur are lower back pain, leg pain, abdominal pain, other neurological symptoms in the lower extremities, or headaches – symptoms which usually diminish when lying flat. [en.wikipedia.org]

• Mitral Valve Prolapse

  MFS2 originally described a phenotype which, similar to the classic Marfan syndrome, is characterized by skeletal abnormalities (macrosomia, arachnodactyly, pectus excavatum) and cardiovascular signs (mitral valve prolapse, dilated aortic root, aortic [medical-genetics.de]

  Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or rupture. [ncbi.nlm.nih.gov]

  It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens. [icd10data.com]

  Mitral valve prolapse may be a component of the familial mitral valve prolapse syndrome (OMIM 157700), but can also occur in the Ehlers-Danlos syndrome and in osteogenesis imperfecta. [aerzteblatt.de]

  […] repair indications patients with severe mitral or aortic valve disease Complications Aortic dissection most common cause of death Mitral valve prolapse Congestive heart failure from cardiac valve abnormalities Please rate topic. [medbullets.com]

• Prolapse

  MFS2 originally described a phenotype which, similar to the classic Marfan syndrome, is characterized by skeletal abnormalities (macrosomia, arachnodactyly, pectus excavatum) and cardiovascular signs (mitral valve prolapse, dilated aortic root, aortic [medical-genetics.de]

  Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or rupture. [ncbi.nlm.nih.gov]

  It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens. [icd10data.com]

  Mitral valve prolapse may be a component of the familial mitral valve prolapse syndrome (OMIM 157700), but can also occur in the Ehlers-Danlos syndrome and in osteogenesis imperfecta. [aerzteblatt.de]

  […] root dilation Operative aortic aneurysm repair indication patients with aneurysms ≥ 4-4.5 cm cardiac valve repair indications patients with severe mitral or aortic valve disease Complications Aortic dissection most common cause of death Mitral valve prolapse [medbullets.com]

• Strabismus

  Other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, strabismus, exotropia, and esotropia. [11] Cardiovascular system [ edit ] The most serious signs and symptoms associated with Marfan [en.wikipedia.org]

• Esotropia

  Other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, strabismus, exotropia, and esotropia. [11] Cardiovascular system [ edit ] The most serious signs and symptoms associated with Marfan [en.wikipedia.org]

• Fear

  Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease. The estimated prevalence is around 2-6 per 100,000 2,5. There is no recognized gender or racial predilection. [radiopaedia.org]

• Headache

  It may cause low back pain, headaches and neurologic deficits such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. [slideplayer.com]

  Some people are unable to take beta-blockers because they have asthma or because of the medication's side effects, which may include drowsiness or weakness, headaches, slowed heartbeat, swelling of the hands and feet or trouble breathing and sleeping. [webmd.com]

  They produce excessive adrenaline (epinephrine) secretion leading to tachycardia, palpitations, hypertension and headache. [patient.info]

  […] sympathetic pain syndrome persistent and severe skin paraesthesia/burning sensations; caused by trauma to peripheral sensory nerve fibres; symptoms, progress and treatment are similar to that of CRPS 1 Conn's syndrome primary aldosteronism; characterized by headaches [medical-dictionary.thefreedictionary.com]

  Symptoms that can occur are lower back pain, leg pain, abdominal pain, other neurological symptoms in the lower extremities, or headaches – symptoms which usually diminish when lying flat. [en.wikipedia.org]

• Meningism

  Tako-Tsubo-Kardiomyopathie, Tako-Tsubo-Syndrom Sturge-Weber Syndrom ( 1 Files ) Erkrankung: Sturge-Weber Syndrom ICD 10: Q85.8 Synonyme: Dmitri disease, encephalofacial angiomatosis, enchephalotrigeminal angiomatosis, fourth phacomatosis, leptomeningeal angiomatosis, meningeal [orphananesthesia.eu]

Treatment - Marfan Syndrome type 2 Attempts to stop the degenerative process have met with little success. [checkorphan.org]

[…] thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment [books.google.com]

If your child has been diagnosed with MFS2, talk with their doctor about all treatment options. Support groups are available for support and more information. [diseaseinfosearch.org]

Prognosis - Marfan Syndrome type 2 Not supplied. Treatment - Marfan Syndrome type 2 Attempts to stop the degenerative process have met with little success. [checkorphan.org]

The prognosis is influenced by the type and localization of the protein. The family history is inconspicuous in about 25% of established cases of MFS1. These are new mutations. [aerzteblatt.de]

The prognosis is particularly poor in individuals with MEN2B who present with clinically apparent MTC, when death from metastatic disease in the mid-twenties is common. [patient.info]

[…] increased aortic stiffness excessive aortic root dilatation (>1.7 mm/year) arterial dissection aortic valve regurgitation (AR) aortic coarctation pulmonary arterial dilatation Pulmonary spontaneous pneumothorax lung cysts and bullae formation Treatment and prognosis [radiopaedia.org]

[…] pattern autosomal dominant mutations FBN1 gene is on chromosome 15 and encodes fibrillin-1, a glycoprotein that forms a protective sheath around elastin elastin is found in multiple parts of the body, including large arteries, skin, lungs, and ligaments Prognosis [medbullets.com]

It has been well established that mutations in the FBN1 gene encoding the structural protein Fibrillin 1 is the molecular etiology of Marfan syndrome. [ncbi.nlm.nih.gov]

[…] written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology [books.google.com]

You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message [orpha.net]

Overview Introduction Clinical definition inherited connective tissue disorder characterized by aortic abnormalities and musculoskeletal deformities Epidemiology demographics clinical manifestations typically occur in adulthood Pathogenesis fibrillins [medbullets.com]

A variant of the fibrillin-2 gene, FBN2, causes congenital contractural arachnodactyly, known as Beals syndrome. [8] Epidemiology Frequency United States MFS is one of the most common single-gene malformation syndromes. [emedicine.medscape.com]

Epidemiology, risk factors, pathogenesis and natural history of thoracic aortic aneurysm. In: UpToDate, ed. UpToDate. Waltham, MD2014. Dietz HC. Marfan Syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(R). Seattle (WA) 1993. [bcidaho.com]

[…] adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer. [53] Women with Marfan syndrome live longer than men. [11] Epidemiology [en.wikipedia.org]

Cited by Pathophysiology of Eosinophilic Esophagitis. Davis BP. Davis BP. Clin Rev Allergy Immunol. 2018 Aug;55(1):19-42. doi: 10.1007/s12016-017-8665-9. Clin Rev Allergy Immunol. 2018. PMID: 29332138 Review. [pubmed.ncbi.nlm.nih.gov]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately [mayomedicallaboratories.com]

The allelic heterogeneity, as well as the clinical overlapping, could be related to the underlying pathophysiology of LDS, MFS, and MFS2 syndromes, and probably ATS, sharing alterations in similar molecular pathways [ 1, 2, 16 ]. [ojrd.biomedcentral.com]

Patients who have clinical findings of MFS, as well as genetic variants in the transforming growth factor-beta receptor-1 gene ( TGF β R1 ) and the transforming growth factor-beta receptor-2 gene ( TGF β R2), are designated as having MFS type 2 (MFS2). [5] Pathophysiology [emedicine.medscape.com]

Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. Jan-Feb 2012;20(1):4-7. PMID 22143279 Milewicz DM, Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. [bcidaho.com]

Prevention - Marfan Syndrome type 2 Not supplied. [checkorphan.org]

Currently the use of beta blocker medications has delayed but not prevented the need to eventually perform aortic surgery. [genome.gov]

Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery may be at increased risk for bacterial endocarditis. [webmd.com]

This allows preventive measures adapted to the individual patient and influences the therapeutic procedure. [aerzteblatt.de]

To prevent potential pregnancy complications that result from the disease, seek medical attention and have regular checkups. [healthline.com]