Editing Marfan syndrome (section)

==Management==
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades{{When|date=June 2017}} and is now similar to that of the average person.<ref>{{cite web |url=http://www.niams.nih.gov/health_info/marfan_syndrome/ |title=Questions and Answers about Marfan Syndrome |publisher=Niams.nih.gov |access-date=23 June 2014 |url-status=live |archive-url=https://web.archive.org/web/20140409161405/http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/ |archive-date=9 April 2014 }}</ref>

Regular checkups are recommended to monitor the health of the heart valves and the [[aorta]]. Marfan syndrome is treated by addressing each issue as it arises and, in particular, preventive medication even for young children to slow progression of aortic dilation. The goal of this treatment strategy is to slow the progression of aortic dilation and prevent any damage to heart valves by eliminating [[Cardiac arrhythmia|heart arrhythmias]], minimizing the [[heart rate]], and lowering the person's [[blood pressure]].<ref>{{Cite web |last=Foundation |first=The Marfan |date=2013-09-02 |title=Common Blood Pressure Drug Reduces Aortic Enlargement in Marfan Syndrome |url=https://marfan.org/2013/09/02/common-blood-pressure-drug-reduces-aortic-enlargement-in-marfan-syndrome/ |access-date=2022-10-09 |website=Marfan Foundation |language=en-US |archive-date=2022-10-09 |archive-url=https://web.archive.org/web/20221009080042/https://marfan.org/2013/09/02/common-blood-pressure-drug-reduces-aortic-enlargement-in-marfan-syndrome/ |url-status=live }}</ref>

===Physical activity===
The [[American Heart Association]] made the following recommendations for people with Marfan syndrome with no or mild aortic dilation:<ref name="Maron2004">{{cite journal | vauthors = Maron BJ, Chaitman BR, Ackerman MJ, Bayés de Luna A, Corrado D, Crosson JE, Deal BJ, Driscoll DJ, Estes NA, Araújo CG, Liang DH, Mitten MJ, Myerburg RJ, Pelliccia A, Thompson PD, Towbin JA, Van Camp SP | display-authors = 6 | title = Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases | journal = Circulation | volume = 109 | issue = 22 | pages = 2807–2816 | date = June 2004 | pmid = 15184297 | doi = 10.1161/01.cir.0000128363.85581.e1 | doi-access = free | oclc = 110943757 | hdl = 11577/1476122 | hdl-access = free }}</ref><ref>{{cite web | url=https://blog.portobelloinstitute.com/marfan-syndrome-and-how-sports-science-is-saving-lives | title=Marfan Syndrome and How Sports Science is Saving Lives | access-date=2022-08-26 | archive-date=2022-08-26 | archive-url=https://web.archive.org/web/20220826124306/https://blog.portobelloinstitute.com/marfan-syndrome-and-how-sports-science-is-saving-lives | url-status=live }}</ref>
* Probably permissible activities: [[bowling]], [[golf]], [[Ice skating|skating]] (but not [[ice hockey]]), [[snorkeling]], brisk walking, [[treadmill]], stationary [[cycling|biking]], modest [[hiking]], and [[tennis]] ([[doubles tennis|doubles]] and [[singles tennis|singles]]).
* Intermediate risk: [[basketball]] (both full- and [[3x3 basketball|half-court]]), [[racquetball]], [[Squash (sport)|squash]], running ([[sprinting]] and [[jogging]]), [[skiing]] ([[downhill skiing|downhill]] and [[cross-country skiing|cross-country]]), [[association football|soccer]], [[flag football|touch (flag) football]], [[baseball]], [[softball]], [[cycling|biking]], lap [[swimming]], [[motorcycling]], and [[horseback riding]].
* High risk: [[bodybuilding]], [[weightlifting]] (non-free and [[Free weight (equipment)|free weights]]), [[ice hockey]], [[rock climbing]], [[windsurfing]], [[surfing]], and [[scuba diving]].

===Medication===
Management often includes the use of [[beta blocker]]s such as [[propranolol]] or if not tolerated [[calcium channel blocker]]s or [[ACE inhibitor]]s.<ref name=NORD2017/><ref name=NIH2010Tx/> Beta blockers are used to reduce the stress exerted on the aorta and to decrease aortic dilation.<ref name=":3" />

===Surgery===
If the dilation of the aorta progresses to a significant-diameter [[aneurysm]], causes a dissection or a rupture, or leads to failure of the aortic or other valve, then surgery (possibly a [[Bentall procedure|composite aortic valve graft]] or [[valve-sparing aortic root replacement]]) becomes necessary. Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis.<ref>{{cite press release|url=http://www.docguide.com/news/content.nsf/news/852571020057CCF6852573E1005A0BDC|title=Elective Aortic Root Surgery in Marfan Syndrome Appears Safe and Durable: Presented at STS|date=January 31, 2008|publisher=Doctor's Guide|access-date=January 13, 2009|url-status=live|archive-url=https://web.archive.org/web/20081120151335/http://www.docguide.com/news/content.nsf/news/852571020057CCF6852573E1005A0BDC|archive-date=November 20, 2008}}<br />See also:
* {{cite journal | vauthors = Cameron DE, Vricella LA | title = Valve-sparing aortic root replacement in Marfan syndrome | journal = Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual | volume = 8 | issue = 1 | pages = 103–111 | year = 2005 | pmid = 15818365 | doi = 10.1053/j.pcsu.2005.03.001 }}
* {{cite journal | vauthors = Gott VL, Cameron DE, Alejo DE, Greene PS, Shake JG, Caparrelli DJ, Dietz HC | title = Aortic root replacement in 271 Marfan patients: a 24-year experience | journal = The Annals of Thoracic Surgery | volume = 73 | issue = 2 | pages = 438–443 | date = February 2002 | pmid = 11845856 | doi = 10.1016/S0003-4975(01)03336-7 }}
* {{cite journal | vauthors = Bethea BT, Fitton TP, Alejo DE, Barreiro CJ, Cattaneo SM, Dietz HC, Spevak PJ, Lima JA, Gott VL, Cameron DE | display-authors = 6 | title = Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients | journal = The Annals of Thoracic Surgery | volume = 78 | issue = 3 | pages = 767–72; discussion 767–72 | date = September 2004 | pmid = 15336989 | doi = 10.1016/j.athoracsur.2004.03.040 | doi-access = free }}</ref> Surgery in the setting of acute aortic dissection or rupture is considerably more problematic. Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches {{convert|50|mm|in|abbr=off|sp=us}}, but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common.<ref name="mayo-heart">{{cite web|url=http://www.mayoclinic.org/marfan-syndrome/heartsurgery.html|title=Heart Surgery for Marfan Syndrome|access-date=January 12, 2007|publisher=Mayo Clinic|archive-url = https://web.archive.org/web/20061218031510/http://www.mayoclinic.org/marfan-syndrome/heartsurgery.html <!-- Bot retrieved archive -->|archive-date=December 18, 2006}}</ref> As people with Marfan syndrome live longer, other vascular repairs are becoming more common, e.g., repairs of descending thoracic aortic aneurysms and aneurysms of vessels other than the aorta.{{citation needed|date=June 2017}}

The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in an appropriate manner for the condition, such as with pain medications or [[muscle relaxant]]s. Because Marfan syndrome may cause asymptomatic spinal abnormalities, any spinal surgery contemplated on a person with Marfan should only follow detailed imaging and careful surgical planning, regardless of the indication for surgery. The ocular complications of MFS can often be treated with surgery. [[Ectopia lentis]] can be treated, as artificial lenses can be surgically implanted. In addition, surgery can address [[glaucoma]] and [[cataract]]s.<ref name=":3" />

Treatment of a spontaneous pneumothorax is dependent on the volume of air in the pleural space and the natural progression of the individual's condition. A small pneumothorax might resolve without active treatment in one to two weeks. Recurrent pneumothoraces might require chest surgery. Moderately sized pneumothoraces might need [[Chest tube|chest drain]] management for several days in a hospital. Large pneumothoraces are likely to be medical emergencies requiring emergency decompression.<ref>{{Cite journal |last1=Zarogoulidis |first1=Paul |last2=Kioumis |first2=Ioannis |last3=Pitsiou |first3=Georgia |last4=Porpodis |first4=Konstantinos |last5=Lampaki |first5=Sofia |last6=Papaiwannou |first6=Antonis |last7=Katsikogiannis |first7=Nikolaos |last8=Zaric |first8=Bojan |last9=Branislav |first9=Perin |last10=Secen |first10=Nevena |last11=Dryllis |first11=Georgios |last12=Machairiotis |first12=Nikolaos |last13=Rapti |first13=Aggeliki |last14=Zarogoulidis |first14=Konstantinos |date=October 2014 |title=Pneumothorax: from definition to diagnosis and treatment |journal=[[Journal of Thoracic Disease]] |volume=6 |issue=Suppl 4 |pages=S372–S376 |doi=10.3978/j.issn.2072-1439.2014.09.24 |issn=2072-1439 |pmc=4203989 |pmid=25337391}}</ref>

As an alternative approach, custom-built supports for the aortic root are also being used.<ref name="Tr2016">{{cite journal | vauthors = Treasure T, Petrou M, Rosendahl U, Austin C, Rega F, Pirk J, Pepper J | title = Personalized external aortic root support: a review of the current status | journal = European Journal of Cardio-Thoracic Surgery | volume = 50 | issue = 3 | pages = 400–404 | date = September 2016 | pmid = 27032474 | doi = 10.1093/ejcts/ezw078 | doi-access = free }}</ref> As of 2020 this procedure has been used in over 300 people with the first case occurring in 2004.<ref>{{cite journal | vauthors = Treasure T, Golesworthy T, Pepper J | title = Practical clinical applications of 3-D printing in cardiovascular surgery | journal = Journal of Thoracic Disease | volume = 9 | issue = 9 | pages = 2792–2797 | date = September 2017 | pmid = 29221242 | pmc = 5708385 | doi = 10.21037/jtd.2017.08.63 | doi-access = free }}</ref><ref>{{cite journal | vauthors = Nemec P, Pepper J, Fila P | title = Personalized external aortic root support | journal = Interactive Cardiovascular and Thoracic Surgery | volume = 31 | issue = 3 | pages = 342–345 | date = September 2020 | pmid = 32761056 | doi = 10.1093/icvts/ivaa111 | doi-access = free }}</ref>

===Pregnancy===
During pregnancy, even in the absence of preconception cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated. Women with Marfan syndrome, then, should receive a thorough assessment prior to conception, and [[echocardiography]] should be performed every six to 10 weeks during pregnancy, to assess the aortic root diameter. For most women, safe vaginal delivery is possible.<ref name="emed">{{cite journal | vauthors = Haskett D, Doyle JJ, Gard C, Chen H, Ball C, Estabrook MA, Encinas AC, Dietz HC, Utzinger U, Vande Geest JP, Azhar M | display-authors = 6 | title = Altered tissue behavior of a non-aneurysmal descending thoracic aorta in the mouse model of Marfan syndrome | journal = Cell and Tissue Research | volume = 347 | issue = 1 | pages = 267–277 | date = January 2012 | pmid = 22105919 | doi = 10.1007/s00441-011-1270-y | url = http://emedicine.medscape.com/article/946315-print | access-date = June 25, 2007 | url-status = live | s2cid = 14333291 | archive-url = https://web.archive.org/web/20090706022447/http://emedicine.medscape.com/article/946315-print | archive-date = July 6, 2009 }}</ref>

[[Prenatal testing]] can be performed in females with Marfan syndrome to determine if the condition has been inherited in their child.<ref name=":2" /> At 10 to 12 weeks of pregnancy, examining a piece of placental tissue through a test called chorionic villus sampling can be performed to make a diagnosis.<ref name=":2" /> Another prenatal test can be performed called [[amniocentesis]] at 16 to 18 weeks of pregnancy.<ref name=":2" />

Marfan syndrome is expressed dominantly. This means a child with one parent a bearer of the gene has a 50% probability of getting the syndrome. In 1996, the first [[Preimplantation genetic diagnosis|preimplantation genetic testing]] (PGT) therapy for Marfan was conducted;<ref name="PGT">{{cite journal | vauthors = Harton GL, Tsipouras P, Sisson ME, Starr KM, Mahoney BS, Fugger EF, Schulman JD, Kilpatrick MW, Levinson G, Black SH | display-authors = 6 | title = Preimplantation genetic testing for Marfan syndrome | journal = Molecular Human Reproduction | volume = 2 | issue = 9 | pages = 713–715 | date = September 1996 | pmid = 9239687 | doi = 10.1093/molehr/2.9.713 | doi-access = free }}</ref> in essence PGT means conducting a genetic test on early-stage [[in vitro fertilization|IVF]] embryo cells and discarding those embryos affected by the Marfan mutation.