Makalah sindrom marfan pdf

Marfan syndrome can sometimes affect the natural position of the chest. Marfan syndrome is a connective tissue disorder which causes defects of aorta and heart values. Mengutip dalam laman mayo clinic, sekitar 4 persen anak dengan sindrom down translokasi memiliki dua salinan penuh dan 1 salinan sebagian kromosom 21 yang menempel bersamaan pada kromosom lain. Oleh karena itu, kami sangat membutuhkan kritik dan saran dari semuanya, demi penyempurnaan makalah ini. People with marfan tend to be tall and thin, with long arms, legs, fingers and toes. Hal ini akan menekan jantung dan pembuluh darah besar, yang akibatkan murmur. Sindrom ini bervariasi dari pola angina pektoris tidak stabil hingga terjadinya infark miokard yang luas. Sindrom down adalah suatu kondisi dimana terdapat tambahan kromosom pada kromosom 21 atau dikenal juga dengan istilah trisomi 21 yang menyebabkan keterlambatan perkembangan fisik, ketidakmampuan belajar, penyakit jantung, tanda awal alzeimer, dan leukimia. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype. Sindrom marfan gejala, penyebab dan mengobati alodokter. In marfans syndrome, the connective tissue abnormality leads mainly to problems in the skeleton bones, heart and blood vessels.

Marfan syndrome is a connectivetissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene fbn1. This gene encodes fibrillin1, a glycoprotein that is the. Patofisiologi insufisiensi aorta disebabkan oleh lesi peradangan yang merusak bentuk bilah katup aorta, sehingga masingmasing bilah tidak bisa menutup lumen aorta dengan rapat selama diastole dan akibatnya menyebabkan aliran balik darah dari aorta ke ventrikel kiri 1. Help us advance research by making a donation or by advocating with legislators to support funding for research.

There is a broad range of clinical severity associated with mfs and related disorders, ranging from isolated features of mfs to neonatal presentation of severe. Marfan syndrome adalah kelainan pada gen yang memengaruhi jaringan ikat tubuh. Penderita sindrom turner juga akan terlambat mendapatkan menstruasi pertama, akibat kekurangan hormon seksual. Marfans syndrome is a systemic disorder of connective tissue, first described more than 100 years ago by a parisian professor of paediatrics, antoinebernard marfan, who reported the association of long slender digits and other skeletal abnormalities in a 5yearold girl, gabrielle. Tabel 3 revisi ghent kriteria sindrom marfan dan kondisi yang berkaitan 6. Sindrom marfan adalah suatu kelainan jaringan ikat yang bersifat autosomal dominant, melibatkan sistem kardiovaskular, mata. Setelah kita semua membaca makalah ini diharapkan kita dapat mengetahui penyakit sindrom down dan patau. Mengenali gejala awal masalah jantung pada ibu hamil. Dec 20, 2017 mutasi akibat usia orang tua yang lanjut memegang peranan penting dalam terjadinya sindrom marfan dan kerdil akondroplastik. Type i or classic marfan syndrome involves mutation in fbn1 gene, located on chromosome 15, which encodes for microfibrillar glycoprotein fibrillin 1. A person with marfan syndrome has a 50% risk of passing the abnormal gene to child. A problem with the fibrillin gene causes marfan syndrome.

Your chest is concave if it caves inwards, and convex if it protrudes outwards. Kematian mendadak oleh karena ruptur aneurisma pada. Marfan syndrome, autosomal dominant, genetic disorder. Marfans syndrome is caused by an abnormal gene affecting the bodys connective tissue, which works like glue to help. You can also get involved by becoming a part of our. Kematian mendadak oleh karena ruptur aneurisma pada sindrom. Pendahuluan sindrom marfan adalah gangguan jaringan ikat. Anorexia nervosa operasi lambung phenobarbital sindrom marfan asidosis tubulus ginjal hiperprolaktinemia defisiensi vit d terapi tiroid be thalassemia porphyria defisiensi kalsium heparin mastositosis.

Marfan syndrome is an autosomal dominant, multisystemic connective tissue disease, associated with a mutation in fibrillin, and occasionally a mutation in. In autosomal dominant conditions, an individual has a diseasecausing mutation in only one copy of the gene that causes the person to have the disease. Your genes, your health, dna learning centers multimedia guide to genetic, inherited disorders. Sindrom down jenis ini kondisi yang dapat terjadi akibat pembelahan sel yang tidak normal setelah pembuahan. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Your child is born with this disease, even if it isnt recognized until later. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome is inherited in an autosomal dominant manner. Marfan syndrome can be mild to severe, and the symptoms can vary. Marfan syndrome is a connective tissue disorder that affects about 1 in 5,000 people. Introduction marfan syndrome autosomal dominant inherited disorder of connective tissue, characterised by loss of elastic tissue, affects numerous body systems, including the musculoskeletal, cardiovascular, neurological, and. It can appear at any age, although it usually becomes noticeable during adolescence.

Mutasi akibat usia orang tua yang lanjut memegang peranan penting dalam terjadinya sindrom marfan dan kerdil akondroplastik. Marfans syndrome is a genetic inherited condition affecting 1 in 5000 to 1 in 10,000 newborns. A case study maysah faisal almulla final year medical student royal college of surgeons in ireland bahrain. People with mfs are often very tall, thin and loosejointed. Rehabilitasi medik adalah merupakan salah satu cabang ilmu kesehatan yang mengupayakan pelayanan kesehatan terhadap gangguan fisik dan fungsional yang diakibatkan oleh keadaan atau kondisi sakit, penyakit atau cedera melalui panduan intervensi medik, keterapian fisik dan atau rehabilitatif untuk mencapai kemampuan fungsi yang optimal. Marfan patients and their relatives may wish to seek genetic counseling to talk about their risk of passing the disorder to their children. Marfan syndrome is a disorder that affects connective tissue. We can help you achieve victories over marfan syndrome and related conditions by offering meaningful ways you can make a difference. Fibrillin is a major building block of microfibrils, which constitute the structural components of the suspensory ligament of the ocular lens and serve as substrates. Fungsi utama dari jaringan ikat adalah untuk menahan tubuh bersamasama. Unduh sebagai docx, pdf, txt atau baca online dari scribd. Marfan syndrome mfs is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. Mengenal penyebab, gejala serta cara mencegah sindrom marfan, kelainan.

Sindrom turner gejala, penyebab dan mengobati alodokter. Infark miokard merupakan nekrosis otot jantung terjadi secara irreversible. This syndrome might affect eyes, lungs, skeleton, etc. Ekspresi sifat bawaan dari individu hete rozigot dapat bervariasi sehingga beberapa di antaranya nampak normal secara klinis. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. Setiap makalah ilmiah yang didapat dinilai berdasarkan evidence based medicine. Marfan syndrome is a serious condition, and some complications are potentially lifethreatening.

Wanita hamil dengan preeklampsia ditandai dengan hipertensi 14090 mmhg. Makalah ini dibuat agar dapat menambah pengetahuan pembaca tentangpola, prinsip, ciriciri, serta faktor tumbuh kembang anakserta hal hal yang terkait dengannya. Sindrom marfan adalah gangguan pada jaringan ikat, yang terjadi akibat kelainan genetik. They also typically have flexible joints and scoliosis. Penelitian terdahulu penelitian tentang analisis biosinyal khususnya sinyal detak jantung ini sudah pernah dilakukan oleh berbagai peneliti.

Advances in medical care have made it possible for people with marfan syndrome to live a normal lifespan if they are diagnosed and treated properly. Mereka pernah dikelompokkan ke dalam satu kerajaan bernama protista, namun sekarang tidak dipertahankan lagi. Ini mungkin disebabkan oleh trauma tusukan pada dada akibat cedera. Kesehatan wanita usia subur makalah ini disusun untuk melengkapi tugas mata kuliah kesehatan ibu dan anak semester 42017 oleh kelompok 1 kesehatan masyarakat kelas a. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and. Sindrom marfan dapat didiagnosa pada masa prenatal, saat lahir atau pada usia dewasa. The syndrome is characterized by the par tial or complete absence of one x chromosome 45,x karyotype. This book was created to help readers understand the basics of marfan syndrome diagnosis and treatment, as well to provide guidance on the lifestyle and practical issues commonly encountered by people with marfan syndrome or a related disorder. Kemudian, dokter akan melakukan pemeriksaan fisik dengan mengukur lingkar pinggang dan tekanan darah pasien, serta menjalankan tes darah untuk memastikan diagnosis.

Diseksio aorta berkaitan sekali dengan hipertensi dan sindrom marfan. Jan 26, 2017 marfan syndrome is a disorder of the connective tissue. Marfan syndrome is an autosomal dominant, multisystemic connective tissue disease, associated with a. Sindrom koroner akut atau acute coronary syndrome acs merupakan suatu kondisi yang mengancam nyawa. Marfan syndrome genetic and rare diseases information. Dalam pneumothorax traumatis udara juga dapat masuk ke dalam ruang pleura dari di luar tubuh. There is a broad range of clinical severity associated with mfs and related disorders, ranging from isolated features of mfs to neonatal. Marfan syndrome is a disorder of connective tissue. Miopia maligna berhubungan dengan penyakit sistemik seperti marfans syndrome, prematur retinopati, ehlersdanlos sindrom dan albinisme. Udara dapat juga diri dari paruparu ke ruang pleura seperti masalah paruparu lain seperti asma dan penyakit paru obstruktif kronik, atau penyakit jaringan ikat langka sindrom marfan. Dec 03, 2005 marfans syndrome is a systemic disorder of connective tissue, first described more than 100 years ago by a parisian professor of paediatrics, antoinebernard marfan, who reported the association of long slender digits and other skeletal abnormalities in a 5yearold girl, gabrielle.

Sep 27, 2019 diagnosis sindrom metabolik dokter akan memulai pemeriksaan dengan menanyakan gejala yang dialami pasien, antara lain gejala diabetes, tekanan darah tinggi, dan kolesterol tinggi. Dec 11, 20 type i or classic marfan syndrome involves mutation in fbn1 gene, located on chromosome 15, which encodes for microfibrillar glycoprotein fibrillin 1. Most people who have marfan syndrome inherit it from their parents. Diagnosis and management of marfan syndrome indonesian. Penelitian molekular menemukan bahwa sumber sindrom ini adalah alel mutan gen fibrillin yang terletak di bagian tengah kromosom 15. Marfan syndrome mfs is a genetic disorder of the connective tissue. Jun 18, 2018 marfan syndrome mfs is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. Jun 05, 2019 marfan syndrome is a lifelong condition.

Sebelumnya pernah diidentifikasi adanya lokus autosomal dominan miopia maligna pada gen 18p11. A manual search of abstracts of articles was made to identify those relating to the topic. Fibrillin1 also affects levels of another protein that helps control how you grow. There is a wide range of c it seems to us that you have your javascript disabled on your browser. Kami tentu masih menyadari bahwa dalam pembuatan makalah ini masih terdapat kesalahan. Perikarditis berkaitan dengan riwayat infeksi saluran nafas atas, atau kondisi lain yang menjadi. The defect itself has been isolated to the fbn1 gene on chromosome 15, which codes for the connective tissue protein fibrillin. Manifestasi klinik sindrom marfan umumnya akan lebih berat jika didapatkan pada masa neonatus. Marfan syndrome is a connective tissue disorder that can affect many organ systems. Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. Sindrom metabolik gejala, penyebab dan mengobati alodokter. Patent ductus arteriosus patent ductus arteriosus merupakan salah satu jenis suara jantung abnormal yang masuk dalam kotegori continuosus murmur.

Oleh karena itu, tinggi badan penderita sindrom turner akan lebih pendek dibandingkan wanita seusianya. Marfan syndrome is a genetic condition caused by a mutation, or change, in one of your genes, called the fibrillin1 fbn1 gene. Makalah pneumothorax yang mencakup pengertian, gejala, penyebab dan pengobatan pneumothorax, baik itu spontan atau tension pneumothorax. Through medical advancements, patients with marfan syndrome are living longer and more active lives. The condition affects the skeleton, lungs, eyes, heart and aorta. Marfan syndrome mfs results from heterozygous mutations in the fibrillin1 gene fbn1. Cari tahu gejala, penyebab, serta pengobatan sindrom marfan di hello. Makalah tumbuh kembang anak by nursing library departemen. Sindrom marfan sm adalah autosom dominan dari jaringan ikat yang melibatkan. The mutation can be inherited from a parent, or can happen by chance for the first time in an. Pulsasi melemah dan dapat terjadi ketidaksimetrisan pulsasi perifer. In rare cases, a persons chest can be severely concave and press against their lungs, affecting breathing.