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]

• Weakness

  Bone (1) supports the whole body, cartilage (2) supports small parts of the body, skin (3) is a relatively weak covering, and basement membrane (4) only supports a layer of individual cells. [stomponstep1.com]

  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]

  If the wall of the aorta becomes very weak, it can tear and lead to serious bleeding in the body. heart valve problems eye problems a pneumothorax (collapsed lung) The symptoms of Marfan syndrome can vary greatly — even within the same family. [kidshealth.org]

  Surgery involves replacing the dilated portion of the aorta with a graft, a piece of man-made material that is inserted to replace the damaged or weak area of the blood vessel. [webmd.com]

• Short Stature

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

  stature, broad short hands/feet, characteristic facies (pronounced epicanthic skin folds, flat hypoplastic face, short nose, enlarged tongue), transverse palmar crease, very dry skin, learning difficulties; formerly termed mongolism Edwards' syndrome [medical-dictionary.thefreedictionary.com]

  stature, short fingers, ectopia lentis). [mayomedicallaboratories.com]

• Trisomy 21

  […] termed mongolism Edwards' syndrome trisomy 18, with congenital characteristic facies (micrognathia, low-set ears), rocker-bottom feet, severe learning difficulties; affected children often die in early childhood Ehlers–Danlos syndrome; Ehlers–Danlos [medical-dictionary.thefreedictionary.com]

• Regurgitation

  […] or mitral regurgitation on auscultation Patients may present with complications of the disease such as, aortic dissection and pneumothorax. [radiopaedia.org]

  Surgery to repair the aorta is done when the aortic diameter is greater than 5 cm in adults and older children, when the aortic diameter increases by 1.0 cm per year, or when there is progressive aortic regurgitation. [genome.gov]

  […] diastolic murmur mitral regurgitation high-pitched holosystolic murmur Imaging Transthoracic echocardiography indication for all patients to evaluate for cardiac involvement findings mitral or aortic valve abnormalities aortic aneurysm or dissection [medbullets.com]

  Surgery to repair or replace the mitral valve in individuals who experience severe mitral valve regurgitation may become necessary. [rarediseases.org]

  Infant morbidity, as related to cardiovascular disease, is due to progression of mitral valve prolapse to mitral regurgitation and often occurs in conjunction with tricuspid prolapse and regurgitation. [emedicine.medscape.com]

• Vomiting

  Neuromas involve the autonomic nerves of both the myenteric and submucosal plexi and can cause poor suckling, with failure to thrive, constipation, diarrhoea, recurrent pseudo-obstruction, toxic megacolon and, occasionally, dysphagia and vomiting, possibly [patient.info]

• Heart Failure

  Cardiac pathologies in LDS, such as ASD and cardiomyopathy, are prevalent, and both can induce pulmonary hypertension and right-sided heart failure. 14 Patients with right-sided heart failure will develop liver congestion that can progress to cirrhosis [samj.org.za]

  failure from cardiac valve abnormalities Please rate topic. [medbullets.com]

  A leaky aortic or mitral valve (the valve that controls the flow of blood between the two left chambers of the heart) can damage the left ventricle (the lower chamber of the heart that is the main pumping chamber) or cause heart failure. [webmd.com]

  In young children, valvular dysfunction leading to congestive heart failure is the leading indication for cardiovascular surgery. Dilation of the pulmonary artery is also observed. [clinicaladvisor.com]

  Heart. 2007 Jun. 93(6):755-60. [Medline]. Frobel AK, Hulpke-Wette M, Schmidt KG, Laer S. Beta-blockers for congestive heart failure in children. Cochrane Database Syst Rev. 2009 Jan 21. CD007037. [Medline]. [emedicine.medscape.com]

• Vascular Disease

  If this is confirmed, anti-TGF-β therapeutic agents might have a far larger role in the treatment of acquired vascular diseases, such as the angiopathy associated with diabetes mellitus." [medpagetoday.com]

  Further genotype-phenotype studies in these connective tissue disorders, together with the comprehension of the role of the genetic factors responsible of the arterial wall defects, will provide new insights in vascular diseases. [ojrd.biomedcentral.com]

• Visual Impairment

  impairment hypermobility syndrome; joint hypermobility syndrome disordered collagen (types 1 and 3) structure, with associated decreased tensile strength of skin/structural tissues; characterized by generalized joint hypermobility, easy bruising, impaired [medical-dictionary.thefreedictionary.com]

  Failure to detect any of the several abnormalities that can affect the eyes may result in poor vision and other visual impairment. Increased risk of retinal detachment does demand special attention. [rarediseases.org]

• Thin Fingers

  Visible symptoms may include: unusually tall height long limbs large, flat feet loose joints long, thin fingers a curved spine a chest bone (sternum) that sticks out or caves inward crowded teeth (caused by an arch in the roof of the mouth) Heart and [healthline.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]

  People with Marfan's are typically tall, with long limbs and long thin fingers. The most serious complications are the defects of the heart valves and aorta. [flipper.diff.org]

• Long Hands

  Individuals with LS share some physical features with MFS, in that they have Marfanoid features including tall and thin habitus, long hands and fingers, pectus excavatum, narrow palate and joint hypermobility.6 MED12-related disorders are inherited in [bcidaho.com]

[…] 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]

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

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]