Sindroma Down dan Penyakit Jantung
Tanggal 21 Maret diperingati sebagai hari Sindrom Down Seduna, Karena tanggal tersebut merepresentasikan trisomi yang ada pada kromosom ke 21 dalam tubuh seorang anak dengan Sindrom Down. Sindrom Down adalah kondisi genetik yang unik dimana bayi terlahir dengan extra kromosom sehingga memiliki proses intelektual yang berbeda.<!--[if supportFields]>ADDIN CSL_CITATION {"citationItems":[{"id":"ITEM-1","itemData":{"ISSN":"22519645","PMID":"27942498","abstract":"Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features. These advances in turn may help to develop targeted therapy for persons with trisomy 21. Screening for DS is an important part of routine prenatal care. Until recently, noninvasive screening for aneuploidy depends on the measurement of maternal serum analytes and ultrasonography. More recent progress has resulted in the development of noninvasive prenatal screening (NIPS) test using cell-free fetal DNA sequences isolated from a maternal blood sample. A review on those achievements is discussed.","author":[{"dropping-particle":"","family":"Kazemi","given":"Mohammad","non-dropping-particle":"","parse-names":false,"suffix":""},{"dropping-particle":"","family":"Salehi","given":"Mansoor","non-dropping-particle":"","parse-names":false,"suffix":""},{"dropping-particle":"","family":"Kheirollahi","given":"Majid","non-dropping-particle":"","parse-names":false,"suffix":""}],"container-title":"International Journal of Molecular and Cellular Medicine","id":"ITEM-1","issue":"3","issued":{"date-parts":[["2016"]]},"page":"125-133","title":"Down syndrome: Current status, challenges and future perspectives","type":"article-journal","volume":"5"},"uris":["http://www.mendeley.com/documents/?uuid=b123578a-3b87-44a5-be87-d08283c6fd23"]}],"mendeley":{"formattedCitation":"(1)","plainTextFormattedCitation":"(1)","previouslyFormattedCitation":"(1)"},"properties":{"noteIndex":0},"schema":"https://github.com/citation-style-language/schema/raw/master/csl-citation.json"}<![endif]-->(1)<!--[if supportFields]><![endif]-->
Sindrom ini dialami 12 dari 10.000 orang di Indonesia dan sejumlah besar pasien menghadapi berbagai masalah kesehatan tambahan, termasuk kelainan jantung bawaan yang dapat mengganggu kesehatan dan tumbuh kembang<!--[if supportFields]>ADDIN CSL_CITATION {"citationItems":[{"id":"ITEM-1","itemData":{"ISBN":"9788578110796","ISSN":"00157120","PMID":"25246403","author":[{"dropping-particle":"","family":"RI","given":"Kementerian Kesehatan","non-dropping-particle":"","parse-names":false,"suffix":""}],"container-title":"Buletin Situasi Penyandang Disabilitas","id":"ITEM-1","issued":{"date-parts":[["2012"]]},"page":"19-24","title":"Situasi Penyandang Diss ediit","type":"article-journal"},"uris":["http://www.mendeley.com/documents/?uuid=66442568-a7ea-4bd5-b721-c8372223a14e"]}],"mendeley":{"formattedCitation":"(2)","plainTextFormattedCitation":"(2)","previouslyFormattedCitation":"(2)"},"properties":{"noteIndex":0},"schema":"https://github.com/citation-style-language/schema/raw/master/csl-citation.json"}<![endif]-->(2)<!--[if supportFields]><![endif]-->
Beberapa ciri fisik umum dari sindrom Down meliputi: Wajah datar, terutama batang hidung, Mata berbentuk almond yang miring ke atas, Leher pendek, Telinga kecil, Lidah yang cenderung menjulur keluar dari mulut, Bintik-bintik putih kecil di mulut.
Penyakit jantung bawaan atau kelainan anatomi jantung dapat dimiliki oleh sindroma down. Penyakit Jantung Bawaan yang data dimiliki pasien sindrom down, dapat bervariasi mulai dari Penyakit Jantung Bawaan Biru seperti defek septum atrioventrikular/Atrioventricullar Septal Defect (AVSD) (juga disebut defek kanal atrioventrikular), diikuti oleh defek septum atrium/Atrial Septal Defect (ASD), defek septum ventrikel/Ventricullar Setal Defect (VSD), hingga Penyakit Jantung Bawaan Biru seperti Tetralogy of Fallot (TOF). Walaupun penderita sindrom down lahir tanpa Penyakit Jantung Bawaan,mereka tetap dapat mengalami kelainan anatomi jantung. Apabila kelainan-kelainan tersebut tidak di tatalaksana dengan adekuat,maka dapat menimbulkan komplikasi kardiovaskular seperti hipertensi pulmonal dan gangguan irama jantung(3,4) penapisan dan deteksi dini penting untuk mencegah komplikasi lebih lanjut.
Daftar Pustaka
<!--[if supportFields]>ADDIN Mendeley Bibliography CSL_BIBLIOGRAPHY <![endif]-->1. Kazemi M, Salehi M, Kheirollahi M. Down syndrome: Current status, challenges and future perspectives. Int J Mol Cell Med. 2016;5(3):125–33.
2. RI KK. Situasi Penyandang Diss ediit. Bul Situasi Penyandang Disabil. 2012;19–24.
3. Fitzpatrick V, Rivelli A, Bria K, Chicoine B. Heart Disease in Adults with down Syndrome between 1996 and 2016. J Am Board Fam Med. 2020;33(6):923–31.
4. Versacci P, Di Carlo D, Digilio MC, Marino B. Cardiovascular disease in Down syndrome. Curr Opin Pediatr. 2018;30(5):616–22.
Sumber gambar: canva.com
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