Materiały źródłowe

• #1 Marfan Syndrome: Symptoms, Treatment and Prevention – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/marfan-syndrome

  Marfan syndrome is a genetic condition and cannot be prevented.

• #2 Strategies to prevent aortic complications in Marfan syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5462720/

  Marfan syndrome (MFS) is an autosomal dominant disorder of the body’s connective tissue, caused by mutations in the fibrillin-1 (FBN1) gene. The keys to treating the syndrome are: limiting sports, frequent scans, medical treatment, and opportune surgery at the right time. Current pharmacological treatment of MFS basically consists of beta-blocker (BB) therapy and angiotensin receptor blockers (ARBs II). The aim of medical treatment is to slow or stop the development of the clinical signs of MFS. Oral BB are the gold standard for medical treatment of the cardiovascular system. BB reduce the expulsion force of the left ventricle, thus reducing both arterial and pulse pressures. All these changes may reduce stress on the wall of the aorta. Nevertheless, recent studies in children with MFS have raised doubts about the efficacy of BB therapy. Furthermore, many patients cannot tolerate BB either because they have asthma or because of drug intolerance or side effects. In addition, BB therapy does not alter the underlying disease process causing weakness in and dilation of the wall of the aorta. Most subsequent studies confirmed a lower aorta dilation rate but only suggested a reduction in mortality. Moreover, no benefit was seen in patients with marked aorta dilation. In the quest for therapeutic alternatives, Habashi et al. first documented, in a murine model, the prevention and reversal of MFS-associated structural changes in the aorta by means of pharmacological resources. This study concluded that these results were due to the inhibiting effect of losartan on TGF-. Randomised studies have been carried out that compare ARBs with the base therapy. The COMPARE study covers a random, open, multi-centre drug trial evaluating the efficacy of losartan, although both the study groups received base treatment with BB. The study revealed a significant drop in average arterial pressure in patients treated with losartan compared with those in the control groups. Despite this, using the same cohort of patients, Franken et al. recently found that cases of FBN1 mutations seemed to respond better to treatment with losartan. The study found no significant differences in changes in the indexed diameter of the aortic root between patients treated with losartan and those given atenolol, yet there was a reduction in the area of the ascending aorta in the group receiving losartan. All MFS patients exhibiting enlargement of the aortic root should receive treatment with suitable doses of BB or ARB II. Despite all the advances in pharmacology, one has to bear in mind that close monitoring and surgery are keys to saving lives in the aortic complications arising from this syndrome.

• #3 About Marfan Syndrome | Heart Disease | CDC

  https://www.cdc.gov/heart-disease/about/marfan-syndrome.html

  Recognizing the signs of Marfan syndrome is important for prevention and treatment of serious and even life-threatening complications. […] People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems. […] Treatment depends on which parts of the body are affected. An aortic aneurysm may be treated with medicine or medicine plus surgery. Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta.

• #4 Strategies to prevent aortic complications in Marfan syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5462720/

  Marfan syndrome (MFS) is an autosomal dominant disorder of the body’s connective tissue, caused by mutations in the fibrillin-1 (FBN1) gene. The keys to treating the syndrome are: limiting sports, frequent scans, medical treatment, and opportune surgery at the right time. Current pharmacological treatment of MFS basically consists of beta-blocker (BB) therapy and angiotensin receptor blockers (ARBs II). The aim of medical treatment is to slow or stop the development of the clinical signs of MFS. Oral BB are the gold standard for medical treatment of the cardiovascular system. BB reduce the expulsion force of the left ventricle, thus reducing both arterial and pulse pressures. All these changes may reduce stress on the wall of the aorta. Nevertheless, recent studies in children with MFS have raised doubts about the efficacy of BB therapy. Furthermore, many patients cannot tolerate BB either because they have asthma or because of drug intolerance or side effects. In addition, BB therapy does not alter the underlying disease process causing weakness in and dilation of the wall of the aorta. Most subsequent studies confirmed a lower aorta dilation rate but only suggested a reduction in mortality. Moreover, no benefit was seen in patients with marked aorta dilation. In the quest for therapeutic alternatives, Habashi et al. first documented, in a murine model, the prevention and reversal of MFS-associated structural changes in the aorta by means of pharmacological resources. This study concluded that these results were due to the inhibiting effect of losartan on TGF-. Randomised studies have been carried out that compare ARBs with the base therapy. The COMPARE study covers a random, open, multi-centre drug trial evaluating the efficacy of losartan, although both the study groups received base treatment with BB. The study revealed a significant drop in average arterial pressure in patients treated with losartan compared with those in the control groups. Despite this, using the same cohort of patients, Franken et al. recently found that cases of FBN1 mutations seemed to respond better to treatment with losartan. The study found no significant differences in changes in the indexed diameter of the aortic root between patients treated with losartan and those given atenolol, yet there was a reduction in the area of the ascending aorta in the group receiving losartan. All MFS patients exhibiting enlargement of the aortic root should receive treatment with suitable doses of BB or ARB II. Despite all the advances in pharmacology, one has to bear in mind that close monitoring and surgery are keys to saving lives in the aortic complications arising from this syndrome.

• #5 Strategies to prevent aortic complications in Marfan syndrome – Sartor – Journal of Thoracic Disease

  https://jtd.amegroups.org/article/view/13360/html

  Marfan syndrome (MFS) is an autosomal dominant disorder of the body’s connective tissue, caused by mutations in the fibrillin-1 (FBN1) gene. The keys to treating the syndrome are: limiting sports, frequent scans, medical treatment, and opportune surgery at the right time. Current pharmacological treatment of MFS basically consists of beta-blocker (BB) therapy and angiotensin receptor blockers (ARBs II). The aim of medical treatment is to slow or stop the development of the clinical signs of MFS. Oral BB are the gold standard for medical treatment of the cardiovascular system. BB reduce the expulsion force of the left ventricle, thus reducing both arterial and pulse pressures. All these changes may reduce stress on the wall of the aorta. Most subsequent studies confirmed a lower aorta dilation rate but only suggested a reduction in mortality. Despite all the advances in pharmacology, one has to bear in mind that close monitoring and surgery are keys to saving lives in the aortic complications arising from this syndrome. […] All MFS patients exhibiting enlargement of the aortic root should receive treatment with suitable doses of BB or ARB II.

• #6 Marfan Syndrome – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/marfan-syndrome

  Treatment of Marfan syndrome is focused on prevention and treatment of complications. […] All patients should routinely be given beta-blockers (eg, atenolol, propranolol) to help prevent cardiovascular complications. These drugs lower myocardial contractility and pulse pressure and reduce progression of aortic root dilation and risk of dissection. Angiotensin II receptor blockers also may be given. […] Prophylactic surgery is offered if aortic diameter is 5 cm (less in children). Pregnant women are at especially high risk of aortic complications; elective aortic repair before conception should be discussed. […] Cardiovascular, skeletal, and ocular findings (including echocardiography) should be reevaluated annually. […] Appropriate genetic counseling is indicated.

• #7 Cardiovascular Management of Adults with Marfan Syndrome | ECR Journal

  https://www.ecrjournal.com/articles/cardiovascular-management-adults-marfan-syndrome?language_content_entity=en

  Beta-blockers are currently used to reduce the progression of aortic root dilatation. […] Beta-blockers are more effective in patients with less severe aortic dilatation, 4.0 cm. […] The main side effects of beta-blockers are bronchospasm, hypotension and bradycardia, and these should be monitored. […] TGF-beta is produced when angiotensin II (AngII) combines with angiotensin II type 1 receptor (AT1R). […] Use of AT1R antagonists (losartan) produced similar effects. […] According to a prospective, randomised controlled trial published in the Netherlands, losartan use reduced aortic root dilatation rate in adult patients with MFS. […] Prophylactic aortic replacement may be undertaken to avoid aortic dissection. European guidelines suggest that when the aortic root diameter reaches 5.0 cm, MFS patients should undergo surgery. […] A more realistic value of 4.8 cm is thought to be appropriate for referral.

• #8 Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3141182/

  First-line prophylaxis of complications with -adrenoceptor blockers became established on the basis that reduction of aortic pressure and heart rate would help. […] Pharmacological and genomic research has provided good evidence that therapy with losartan and doxycycline would prevent the aortic complications of Marfan syndrome. […] Combination prophylactic therapy would appear rational. […] Identification of the importance of TGF- led to evaluation of angiotensin II type I receptor (AT1R) blockers with highly promising results. […] The molecular pharmacological rationale for the use of AT1R blockers, often abbreviated as ARBs, in Marfan syndrome, developed from the observation that in addition to its structural function, fibrillin-1 interacts with, and regulates, the transforming growth factor beta (TGF-) family of growth factors.

• #9 Stopping life-threatening problems in people with Marfan syndrome – BHF

  https://www.bhf.org.uk/what-we-do/our-research/research-successes/stopping-life-threatening-complications-of-marfan-syndrome

  Some people with Marfan syndrome have weak blood vessels which are at risk of bursting. This can be fatal. The only effective treatment to prevent aortic rupture is open-heart surgery to replace the damaged section of the aorta. […] Common drugs called beta blockers have been shown to slow this expansion of the aorta. […] In 2018, the trial showed that the rate of expansion of the aortic root was reduced by 30 per cent in the irbesartan group compared with the control group, and that irbesartan seemed safe, even in children. These findings provided much-needed evidence for using irbesartan as an additional treatment for people with Marfan syndrome. […] Although irbesartan was shown to slow down expansion of the aortic root in people with Marfan syndrome in the AIMS trial, it cannot cure or prevent an aortic aneurysm. […] The team now hopes to use the lab-generated Marfan blood vessel cells to test drugs that target this new pathway, to try and prevent these potentially fatal aneurysms from happening.

• #10 Marfan Syndrome | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/marfan-syndrome

  Progressive aortic dilation increases the risk of dissection, a tear between the walls of the aorta, Aortic dissection is very serious and can be fatal. Our goal is to prevent aortic dissection by lowering the blood pressure transmitted to the aorta (medical therapy; avoidance of competitive sports), avoiding a blow to the chest (avoidance of contact sports like football and basketball) and surgery. […] Beta blocker medications have been shown to reduce the RATE of aortic growth over time, and are considered and/or recommended when the diagnosis of Marfan Syndrome is made. Examples of beta blocker medications include: Toprol (metoprolol), Tenormin (atenolol), Inderal (propranolol), Corgard (nadolol). […] Alternatives for patients intolerant to beta blockers (usually due to wheezing, coughing or asthma symptoms) include calcium channel blockers (verapamil), angiotensin receptor blocking agents (valsartan) or angiotensin converting enzyme inhibitors (lisinopril). […] The goal of aortic root resection (removal of the aneurysm) is to prevent life threatening aortic complications such as aortic rupture or dissection.

• #11 Preventing the aortic complications of Marfan syndrome: a case-example of translational genomic medicine

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3141182/

  With these new insights, translational work progressed rapidly. […] Given the known risk of substantial bias inherent in observational studies, poor estimates of efficacy from small human trials, and difficulty in extrapolating from animals to humans, it is proper that confirmatory randomized controlled trial evidence in humans be generated and several trials are underway. […] However, the primary end-point in most of the ongoing trials is a change in aortic root size. […] Given the likely difference in molecular mechanisms of action and early promising animal studies, a well-designed randomized controlled trial of losartan in combination with doxycycline might also be appropriate. […] Although doxycycline also suppressed the upregulation of TGF-, given the evidence that both doxycycline and losartan reduce progression of thoracic aortic aneurysm, and their different spectra of action, combination therapy would appear logical. […] The use of statins in combination with peroxisome proliferators-activated receptor (PPAR) agonists has also been proposed as a possible novel strategy as a prophylactic treatment for aortic aneurysm syndromes, including Marfan syndrome.

• #12 Inverse Agonist Activity of Angiotensin II Receptor Blocker Is Crucial for Prevention of Aortic Aneurysm Formation in Marfan Syndrome | bioRxiv

  https://www.biorxiv.org/content/10.1101/2022.12.21.521508v2

  Background Marfan syndrome (MFS), an inherited disorder caused by FBN1 gene mutations, causes fatal aortic aneurysm. Selective angiotensin II (Ang II) type 1 (AT1) receptor blockade is a preventive option for patients with MFS aortopathy, and recent clinical studies demonstrated that the inhibitory effect of an AT1 receptor blocker (ARB) losartan on aortic aneurysm growth is equivalent to that of β-blockers. […] Our findings support a crucial role of inverse agonist activity of ARB for prevention of mechanical stress-induced AT1 receptor activation and aortic aneurysm formation in MFS mice.

• #13 Marfan syndrome – Harris- Annals of Cardiothoracic Surgery

  https://www.annalscts.com/article/view/4189/html

  Management aims to prevent the various complications of this condition. […] Regular monitoring is key to the early detection, prevention and treatment of complications.

• #14 Marfan Syndrome | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/marfan-syndrome.html

  Once Marfan syndrome has been identified in a family, it is important that all members to evaluated for it. It is particularly important to have regular diagnostic testing of the aorta and heart for early detection of abnormalities, which may become life-threatening. […] Anyone who may have Marfan or Marfanoid syndrome should be screened with echocardiography every year. Once the aorta, as it rises above the heart, is larger than 3.5 centimeters, screening with echocardiography should be done every six months. When the aorta reaches 4.0 centimeters, the patient should schedule a consultation with a cardiac surgeon specializing in aortic surgery for Marfan syndrome. […] Even before aortic surgery, persons with Marfan syndrome should be treated with blood pressure drugs such as beta blockers and ACE inhibitors. In general, people with Marfan’s syndrome should keep their systolic blood pressure (which is a measurement of the blood pressure after the heart has just contracted) range from 105 to 110 during normal activities. This keeps the force of pressure on the aorta lower and reduces the risk of a tear.

• #15 Marfan Syndrome | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/marfan-syndrome.html

  Once Marfan syndrome has been identified in a family, it is important that all members to evaluated for it. It is particularly important to have regular diagnostic testing of the aorta and heart for early detection of abnormalities, which may become life-threatening. […] Anyone who may have Marfan or Marfanoid syndrome should be screened with echocardiography every year. Once the aorta, as it rises above the heart, is larger than 3.5 centimeters, screening with echocardiography should be done every six months. When the aorta reaches 4.0 centimeters, the patient should schedule a consultation with a cardiac surgeon specializing in aortic surgery for Marfan syndrome. […] Even before aortic surgery, persons with Marfan syndrome should be treated with blood pressure drugs such as beta blockers and ACE inhibitors. In general, people with Marfan’s syndrome should keep their systolic blood pressure (which is a measurement of the blood pressure after the heart has just contracted) range from 105 to 110 during normal activities. This keeps the force of pressure on the aorta lower and reduces the risk of a tear.

• #16 Marfan Syndrome: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/marfan-syndrome-5113945

  A key part of treatment is preventing aortic dissection or rupture. Medications can help lower the blood pressure and make this less likely. […] People with Marfan syndrome need to have regular imaging of their heart to make sure the early part of the aorta hasnt become too enlarged. This can be done with an echocardiogram or CT scan every one or two years. […] People with Marfan syndrome should also have a complete eye exam once a year, even if they dont have any current eye symptoms. This can help identify possible retinal detachment and other issues before they become severe and more difficult to treat. […] Its also important that people with Marfan syndrome protect their heart and blood vessels in other ways. For example, smoking increases the risk of aortic dissection in people with Marfan syndrome. So its even more important that these individuals quit smoking than it is for people without Marfan syndrome.

• #17 Marfan Syndrome – OrthoInfo – AAOS

  https://orthoinfo.aaos.org/en/diseases–conditions/marfan-syndrome/

  There are treatments to manage and help prevent the heart problems associated with Marfan syndrome. […] Medications, such as beta-blockers, lower blood pressure and reduce stress on the aorta and other blood vessels. […] Heart monitoring tests, like echocardiograms, can detect changes in the heart, including dilation of the aorta. People with Marfan syndrome should have regular echocardiograms and other tests recommended by their doctors to monitor the health of their hearts. […] Yearly eye exams by an ophthalmologist are required to quickly identify any changes in the eye. […] Because there is no cure, treatment for Marfan syndrome focuses on managing the symptoms and preventing complications. […] Regular medical monitoring is essential for people with Marfan syndrome, especially testing for changes in heart and eye health.

• #18 Marfan syndrome – UF Health

  https://ufhealth.org/conditions-and-treatments/marfan-syndrome

  Spontaneous new gene mutations leading to Marfan (less than one third of cases) cannot be prevented. […] If you have Marfan syndrome, see your provider at least once every year.

• #19 Strategies to prevent aortic complications in Marfan syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5462720/

  Marfan syndrome (MFS) is an autosomal dominant disorder of the body’s connective tissue, caused by mutations in the fibrillin-1 (FBN1) gene. The keys to treating the syndrome are: limiting sports, frequent scans, medical treatment, and opportune surgery at the right time. Current pharmacological treatment of MFS basically consists of beta-blocker (BB) therapy and angiotensin receptor blockers (ARBs II). The aim of medical treatment is to slow or stop the development of the clinical signs of MFS. Oral BB are the gold standard for medical treatment of the cardiovascular system. BB reduce the expulsion force of the left ventricle, thus reducing both arterial and pulse pressures. All these changes may reduce stress on the wall of the aorta. Nevertheless, recent studies in children with MFS have raised doubts about the efficacy of BB therapy. Furthermore, many patients cannot tolerate BB either because they have asthma or because of drug intolerance or side effects. In addition, BB therapy does not alter the underlying disease process causing weakness in and dilation of the wall of the aorta. Most subsequent studies confirmed a lower aorta dilation rate but only suggested a reduction in mortality. Moreover, no benefit was seen in patients with marked aorta dilation. In the quest for therapeutic alternatives, Habashi et al. first documented, in a murine model, the prevention and reversal of MFS-associated structural changes in the aorta by means of pharmacological resources. This study concluded that these results were due to the inhibiting effect of losartan on TGF-. Randomised studies have been carried out that compare ARBs with the base therapy. The COMPARE study covers a random, open, multi-centre drug trial evaluating the efficacy of losartan, although both the study groups received base treatment with BB. The study revealed a significant drop in average arterial pressure in patients treated with losartan compared with those in the control groups. Despite this, using the same cohort of patients, Franken et al. recently found that cases of FBN1 mutations seemed to respond better to treatment with losartan. The study found no significant differences in changes in the indexed diameter of the aortic root between patients treated with losartan and those given atenolol, yet there was a reduction in the area of the ascending aorta in the group receiving losartan. All MFS patients exhibiting enlargement of the aortic root should receive treatment with suitable doses of BB or ARB II. Despite all the advances in pharmacology, one has to bear in mind that close monitoring and surgery are keys to saving lives in the aortic complications arising from this syndrome.

• #20 Marfan’s Syndrome (Causes, Symptoms and Treatment)

  https://patient.info/doctor/marfans-syndrome-pro

  Prophylactic aortic root surgery is the only definitive treatment for the prevention of aortic dissection in Marfan’s syndrome. […] The aim of personalised external aortic root support (PEARS) using mesh in people with Marfan’s syndrome is to reinforce the aortic root and ascending aorta to prevent enlargement and subsequent dissection or rupture. […] Women with an aortic root diameter 45 mm are strongly discouraged from becoming pregnant without prior repair because of the increased risk of dissection. […] […] After repair of the ascending aorta, Marfan patients remain at risk for dissection of the residual aorta.

• #21 Genetics of Marfan Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/946315-treatment

  Restriction of physical activity with avoidance of contact sports, isometric exercise, and activities that can cause joint injury/pain. […] Subacute endocarditis prophylaxis for dental work in the presence of mitral or aortic valve regurgitation. […] Prophylactic aortic root surgery should be considered when the aortic diameter at the sinus of Valsalva is over 5 cm. […] Counseling for pregnant women diagnosed with MFS is as follows: Pregnancy is considered high-risk and should be monitored throughout by a high-risk obstetrician and with continued monitoring into the immediate postpartum period. […] The current criterion standard for treatment of aortic aneurysm in MFS is the preventive administration of beta blockers. However, beta blockers do not prevent surgery at a later age. […] Indicators for prophylactic surgery of the aortic root in adults (at least one criterion is needed) include the following: Aortic root diameter of more than 55 mm or aortic root diameter of greater than 50 mm in patients with high risk for aortic complications.

• #22 Cardiovascular Management of Adults with Marfan Syndrome | ECR Journal

  https://www.ecrjournal.com/articles/cardiovascular-management-adults-marfan-syndrome?language_content_entity=en

  Beta-blockers are currently used to reduce the progression of aortic root dilatation. […] Beta-blockers are more effective in patients with less severe aortic dilatation, 4.0 cm. […] The main side effects of beta-blockers are bronchospasm, hypotension and bradycardia, and these should be monitored. […] TGF-beta is produced when angiotensin II (AngII) combines with angiotensin II type 1 receptor (AT1R). […] Use of AT1R antagonists (losartan) produced similar effects. […] According to a prospective, randomised controlled trial published in the Netherlands, losartan use reduced aortic root dilatation rate in adult patients with MFS. […] Prophylactic aortic replacement may be undertaken to avoid aortic dissection. European guidelines suggest that when the aortic root diameter reaches 5.0 cm, MFS patients should undergo surgery. […] A more realistic value of 4.8 cm is thought to be appropriate for referral.

• #23 Marfan’s Syndrome (Causes, Symptoms and Treatment)

  https://patient.info/doctor/marfans-syndrome-pro

  Prophylactic aortic root surgery is the only definitive treatment for the prevention of aortic dissection in Marfan’s syndrome. […] The aim of personalised external aortic root support (PEARS) using mesh in people with Marfan’s syndrome is to reinforce the aortic root and ascending aorta to prevent enlargement and subsequent dissection or rupture. […] Women with an aortic root diameter 45 mm are strongly discouraged from becoming pregnant without prior repair because of the increased risk of dissection. […] […] After repair of the ascending aorta, Marfan patients remain at risk for dissection of the residual aorta.

• #24 Marfan’s Syndrome (Causes, Symptoms and Treatment)

  https://patient.info/doctor/marfans-syndrome-pro

  Prophylactic aortic root surgery is the only definitive treatment for the prevention of aortic dissection in Marfan’s syndrome. […] The aim of personalised external aortic root support (PEARS) using mesh in people with Marfan’s syndrome is to reinforce the aortic root and ascending aorta to prevent enlargement and subsequent dissection or rupture. […] Women with an aortic root diameter 45 mm are strongly discouraged from becoming pregnant without prior repair because of the increased risk of dissection. […] […] After repair of the ascending aorta, Marfan patients remain at risk for dissection of the residual aorta.

• #25 Marfan Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

  Theres no cure for Marfan syndrome. But various treatments and strategies can help manage your symptoms and prevent complications, like: […] Certain medications can help prevent or manage complications, including: […] Beta-blockers prevent or slow down the enlargement of your aorta. Healthcare providers recommend beta-blocker therapy at an early age for MFS. […] ARBs may also slow the rate of aorta enlargement in people with MFS. […] Youll need routine medical appointments to monitor your: […] This way, your healthcare team can track changes and catch any possible complications as soon as they appear. […] Intense physical activity can strain your aorta and other connective tissues impacted by MFS. Because of this, youll work closely with a physical therapist to find exercises and sports that are safe for you.

• #26

  https://www.nhs.uk/conditions/marfan-syndrome/treatment/

  There’s currently no cure for Marfan syndrome. Treatment focuses on managing the symptoms and reducing the risk of complications. […] People with Marfan syndrome are often prescribed a type of medicine called beta blockers to help prevent damage to their heart. […] If your cardiologist feels it’s necessary, you may need to have heart surgery to reduce your risk of developing life-threatening complications. […] If you have Marfan syndrome, you may be advised to avoid certain sports. […] These types of sporting activities can place a strain on your heart. They raise your blood pressure and heart rate, which may increase the risk of an aortic tear. […] Your cardiologist will be able to give you more advice about which sports and physical activities are suitable for you.

• #27 Cardiovascular Management of Adults with Marfan Syndrome | ECR Journal

  https://www.ecrjournal.com/articles/cardiovascular-management-adults-marfan-syndrome?language_content_entity=en

  Marfan syndrome (MFS) is a disease in which connective tissue becomes weak secondary to fibrillin-1 mutations, resulting in aortic dilatation, aneurysm formation, aortic dissection, aortic regurgitation and mitral valve prolapse. […] We discuss the cardiac manifestations of MFS, the incidence of arrhythmia in this population, the standard of medical care for arrhythmia and valve insufficiency, and a new use of preventive medication to preserve the integrity of the aortic wall in patients with MFS. […] MFS patients require appropriate exercise, isometric and isokinetic exertion at less than maximal effort. However, to avoid severe cardiovascular complications they should avoid contact sports, which may cause chest trauma, and also ocular complications such as ectopia lentis. […] Risk factors that accelerate expansion of the aortic wall should be addressed and modified. Smokers have a higher aortic dilatation expansion rate and higher occurrence of dissection than nonsmokers. Smoking should therefore be avoided by patients with MFS as it is related to vascular complications. […] As continuous positive airway pressure (CPAP) may stop aortic diameter progression, patients who have OSA should be treated with CPAP.

• #28 Marfan’s Syndrome (Causes, Symptoms and Treatment)

  https://patient.info/doctor/marfans-syndrome-pro

  Management requires a multidisciplinary team which should include a geneticist, an ophthalmologist, a cardiologist and an orthopaedic surgeon. […] Psychological support may be required in order to help patients cope with the fact that they have a chronic disease which may shorten their life and affect offspring. Many patients also have poor self-esteem and impaired relationships/sex lives due to concerns about their bodily appearance. […] The patient should be advised to avoid exertion at maximal capacity, vigorously competitive or contact sports (fatal aortic dissection and rupture in young adults is often due to MFS). Scuba diving, weightlifting, climbing steep inclines and gymnastics should be avoided due to dangers of raised intra-thoracic/intra-aortic pressures. […] Prophylactic beta-blockers are used to reduce mean arterial pressure and pulse rate significantly. Studies have suggested that introducing them at an early age under the supervision of a paediatrician or cardiologist lowers the risk of aortic rupture and slowed aortic root dilatation.

• #29 Marfan syndrome – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/diagnosis-treatment/drc-20350787

  While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing. […] Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture. […] You may need to avoid competitive sports and certain recreational activities if you’re at increased risk of aortic dissection or rupture. Increases in blood pressure, common in activities such as weightlifting, place extra strain on the aorta. Less intense activities such as brisk walking, bowling, doubles tennis or golf are generally safer.

• #30 Marfan Syndrome – Causes, Symptoms, Treatment, Diagnosis – MedBroadcast.com

  https://medbroadcast.com/condition/getcondition/marfan-syndrome

  Exercise should be limited to non-strenuous activities, such as walking, cycling, or jogging, which can be done at your own pace. High intensity competitive or contact sports aren’t recommended. […] Avoiding medications, such as decongestants, and foods containing caffeine is also recommended to prevent increases in blood pressure and to limit stretching of the connective tissue in the cardiovascular system. […] It’s important to remember that early diagnosis and treatment prevent far more serious complications from developing.

• #31 Cardiovascular Management of Adults with Marfan Syndrome | ECR Journal

  https://www.ecrjournal.com/articles/cardiovascular-management-adults-marfan-syndrome?language_content_entity=en

  Marfan syndrome (MFS) is a disease in which connective tissue becomes weak secondary to fibrillin-1 mutations, resulting in aortic dilatation, aneurysm formation, aortic dissection, aortic regurgitation and mitral valve prolapse. […] We discuss the cardiac manifestations of MFS, the incidence of arrhythmia in this population, the standard of medical care for arrhythmia and valve insufficiency, and a new use of preventive medication to preserve the integrity of the aortic wall in patients with MFS. […] MFS patients require appropriate exercise, isometric and isokinetic exertion at less than maximal effort. However, to avoid severe cardiovascular complications they should avoid contact sports, which may cause chest trauma, and also ocular complications such as ectopia lentis. […] Risk factors that accelerate expansion of the aortic wall should be addressed and modified. Smokers have a higher aortic dilatation expansion rate and higher occurrence of dissection than nonsmokers. Smoking should therefore be avoided by patients with MFS as it is related to vascular complications. […] As continuous positive airway pressure (CPAP) may stop aortic diameter progression, patients who have OSA should be treated with CPAP.

• #32 Marfan Syndrome | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/m/marfan-syndrome.html

  Medical treatment is also ongoing. This typically involves either two or three drugs to prevent high systolic blood pressure. Managing blood pressure to prevent a tear or rupture or the aorta as well as to reduce the risk of strokes or heart attacks is important. […] Persons with Marfan syndrome who follow a healthy lifestyle, eat a nutritionally sound diet and do moderate exercise will have a better quality of life. This may also lower the risks of future surgery, enhance healing and recovery and make managing a stable blood pressure easier.

• #33

  https://www.singhealth.com.sg/patient-care/conditions-treatments/marfan-syndrome

  Marfan syndrome is a genetic disorder of the connective tissue, in particularly affecting the heart, blood vessels, skeleton and eyes. […] While it is not possible to cure Marfan syndrome, much can be done to make sure you/your child has the best possible outcome. […] Management measures may include: Regular echocardiograms to assess the heart and width of the aorta. Medications and/or surgery may be required if the width of the aorta gets too wide. […] Maintaining good dental and skin hygiene, which is important to reduce the risk of infection of the heart valves. […] Antibiotic prophylaxis may be required before surgery and dental procedures in some cases. Please discuss with your doctor for the latest update on antibiotic prophylaxis. […] There are also important lifestyle considerations for an individual with Marfan syndrome: Ensure a balanced diet, engage in low-intensity exercise and avoid smoking. These measures are also good for general health.

• #34 Marfan Syndrome – Causes, Symptoms, Treatment, Diagnosis – MedBroadcast.com

  https://medbroadcast.com/condition/getcondition/marfan-syndrome

  Exercise should be limited to non-strenuous activities, such as walking, cycling, or jogging, which can be done at your own pace. High intensity competitive or contact sports aren’t recommended. […] Avoiding medications, such as decongestants, and foods containing caffeine is also recommended to prevent increases in blood pressure and to limit stretching of the connective tissue in the cardiovascular system. […] It’s important to remember that early diagnosis and treatment prevent far more serious complications from developing.

• #35 Provide Comprehensive Care for Patients with Marfan Syndrome

  https://dimensionsofdentalhygiene.com/article/provide-comprehensive-care-for-patients-with-marfan-syndrome/

  Patients with Marfan syndrome are at greater risk of developing mitral valve prolapse and infective endocarditis than the general population. […] Preprocedural rinsing of the oral cavity with an antimicrobial mouthrinse may decrease the bacterial load in the mouth, thereby reducing the likelihood of transient bacteremia. […] Patients with Marfan syndrome should be carefully monitored when a local anesthetic containing the vasoconstrictor epinephrine is administered. […] Patients with Marfan syndrome may need multiple extractions in a single appointment under general anesthesia because of extensive crowding of the teeth and the presence of supernumerary teeth. […] According to Hirota et al, the inhalation of 40% nitrous oxide yielded psychosedation and stabilization of blood pressure in a patient with Marfan syndrome.

• #36 Cardiovascular Management of Adults with Marfan Syndrome | ECR Journal

  https://www.ecrjournal.com/articles/cardiovascular-management-adults-marfan-syndrome?language_content_entity=en

  Infective endocarditis can be difficult to prevent as it may occur from such activities as brushing teeth, chewing or flossing. […] The Marfan Foundation also recommends prophylaxis of endocarditis for MFS patients who have valvular regurgitation, because although other guidelines do not recommend prophylaxis of endocarditis for patients with valvular regurgitation without personal endocarditis history, there is no risk stratification of endocarditis in the case of patients with systemic connective tissue disorder.

• #37

  https://www.singhealth.com.sg/patient-care/conditions-treatments/marfan-syndrome

  Marfan syndrome is a genetic disorder of the connective tissue, in particularly affecting the heart, blood vessels, skeleton and eyes. […] While it is not possible to cure Marfan syndrome, much can be done to make sure you/your child has the best possible outcome. […] Management measures may include: Regular echocardiograms to assess the heart and width of the aorta. Medications and/or surgery may be required if the width of the aorta gets too wide. […] Maintaining good dental and skin hygiene, which is important to reduce the risk of infection of the heart valves. […] Antibiotic prophylaxis may be required before surgery and dental procedures in some cases. Please discuss with your doctor for the latest update on antibiotic prophylaxis. […] There are also important lifestyle considerations for an individual with Marfan syndrome: Ensure a balanced diet, engage in low-intensity exercise and avoid smoking. These measures are also good for general health.

• #38

  https://www.singhealth.com.sg/patient-care/conditions-treatments/marfan-syndrome

  Marfan syndrome is a genetic disorder of the connective tissue, in particularly affecting the heart, blood vessels, skeleton and eyes. […] While it is not possible to cure Marfan syndrome, much can be done to make sure you/your child has the best possible outcome. […] Management measures may include: Regular echocardiograms to assess the heart and width of the aorta. Medications and/or surgery may be required if the width of the aorta gets too wide. […] Maintaining good dental and skin hygiene, which is important to reduce the risk of infection of the heart valves. […] Antibiotic prophylaxis may be required before surgery and dental procedures in some cases. Please discuss with your doctor for the latest update on antibiotic prophylaxis. […] There are also important lifestyle considerations for an individual with Marfan syndrome: Ensure a balanced diet, engage in low-intensity exercise and avoid smoking. These measures are also good for general health.

• #39 Provide Comprehensive Care for Patients with Marfan Syndrome

  https://dimensionsofdentalhygiene.com/article/provide-comprehensive-care-for-patients-with-marfan-syndrome/

  Patients with Marfan syndrome are at greater risk of developing mitral valve prolapse and infective endocarditis than the general population. […] Preprocedural rinsing of the oral cavity with an antimicrobial mouthrinse may decrease the bacterial load in the mouth, thereby reducing the likelihood of transient bacteremia. […] Patients with Marfan syndrome should be carefully monitored when a local anesthetic containing the vasoconstrictor epinephrine is administered. […] Patients with Marfan syndrome may need multiple extractions in a single appointment under general anesthesia because of extensive crowding of the teeth and the presence of supernumerary teeth. […] According to Hirota et al, the inhalation of 40% nitrous oxide yielded psychosedation and stabilization of blood pressure in a patient with Marfan syndrome.

• #40 Genetics of Marfan Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/946315-treatment

  Restriction of physical activity with avoidance of contact sports, isometric exercise, and activities that can cause joint injury/pain. […] Subacute endocarditis prophylaxis for dental work in the presence of mitral or aortic valve regurgitation. […] Prophylactic aortic root surgery should be considered when the aortic diameter at the sinus of Valsalva is over 5 cm. […] Counseling for pregnant women diagnosed with MFS is as follows: Pregnancy is considered high-risk and should be monitored throughout by a high-risk obstetrician and with continued monitoring into the immediate postpartum period. […] The current criterion standard for treatment of aortic aneurysm in MFS is the preventive administration of beta blockers. However, beta blockers do not prevent surgery at a later age. […] Indicators for prophylactic surgery of the aortic root in adults (at least one criterion is needed) include the following: Aortic root diameter of more than 55 mm or aortic root diameter of greater than 50 mm in patients with high risk for aortic complications.

• #41

  https://www.snec.com.sg/patient-care/conditions-treatments/marfan-syndrome

  Avoid heavy weightlifting and contact sports. Discuss with your doctor about recommendations for exercise and activities. […] Pregnant women with Marfan syndrome may be at high risk of obstetric and cardiac complications due to increased stress of the aortic wall especially during delivery. Please consult your doctor for preconception care and counselling.

• #42 Marfan’s Syndrome (Causes, Symptoms and Treatment)

  https://patient.info/doctor/marfans-syndrome-pro

  Prophylactic aortic root surgery is the only definitive treatment for the prevention of aortic dissection in Marfan’s syndrome. […] The aim of personalised external aortic root support (PEARS) using mesh in people with Marfan’s syndrome is to reinforce the aortic root and ascending aorta to prevent enlargement and subsequent dissection or rupture. […] Women with an aortic root diameter 45 mm are strongly discouraged from becoming pregnant without prior repair because of the increased risk of dissection. […] […] After repair of the ascending aorta, Marfan patients remain at risk for dissection of the residual aorta.

• #43 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  Years ago, most people with Marfan syndrome died in their 40s. Today, people who have Marfan syndrome have nearly the same life expectancy as people who do not have this condition. Prevention of aortic dissection and rupture probably explains why the life span has been lengthened. […] Treatment of Marfan syndrome is aimed at preventing and/or fixing dangerous complications. […] Pregnant women are at especially high risk of complications with their aorta, so repair of the aorta before conception should be discussed. […] People should receive genetic counseling.

• #44 Genetics of Marfan Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/946315-treatment

  Restriction of physical activity with avoidance of contact sports, isometric exercise, and activities that can cause joint injury/pain. […] Subacute endocarditis prophylaxis for dental work in the presence of mitral or aortic valve regurgitation. […] Prophylactic aortic root surgery should be considered when the aortic diameter at the sinus of Valsalva is over 5 cm. […] Counseling for pregnant women diagnosed with MFS is as follows: Pregnancy is considered high-risk and should be monitored throughout by a high-risk obstetrician and with continued monitoring into the immediate postpartum period. […] The current criterion standard for treatment of aortic aneurysm in MFS is the preventive administration of beta blockers. However, beta blockers do not prevent surgery at a later age. […] Indicators for prophylactic surgery of the aortic root in adults (at least one criterion is needed) include the following: Aortic root diameter of more than 55 mm or aortic root diameter of greater than 50 mm in patients with high risk for aortic complications.

• #45 Marfan Syndrome – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/connective-tissue-disorders-in-children/marfan-syndrome

  Treatment of Marfan syndrome is focused on prevention and treatment of complications. […] All patients should routinely be given beta-blockers (eg, atenolol, propranolol) to help prevent cardiovascular complications. These drugs lower myocardial contractility and pulse pressure and reduce progression of aortic root dilation and risk of dissection. Angiotensin II receptor blockers also may be given. […] Prophylactic surgery is offered if aortic diameter is 5 cm (less in children). Pregnant women are at especially high risk of aortic complications; elective aortic repair before conception should be discussed. […] Cardiovascular, skeletal, and ocular findings (including echocardiography) should be reevaluated annually. […] Appropriate genetic counseling is indicated.

• #46 Marfan Syndrome: Symptoms, Causes, Risk Factors, and More

  https://www.healthline.com/health/marfan-syndrome

  Theres no way to prevent Marfan syndrome. […] If a person has this condition or knows they have a change in the FBN1 gene, they can seek genetic counseling to discuss the risk of having a child with the syndrome. […] But people can reduce the risk of serious complications by seeking medical help for problems and attending regular checkups as a doctor recommends.

• #47 Marfan syndrome Guide: Causes, Symptoms and Treatment Options

  https://www.drugs.com/health-guide/marfan-syndrome.html

  There is no way to prevent Marfan syndrome. People with Marfan syndrome and their relatives may wish to seek genetic counseling to talk about their risk of passing the disorder to their children. A person with Marfan syndrome has a 50% risk of passing the abnormal gene to child. […] Complications of Marfan syndrome may be prevented with proper care; as examples, medications to lower blood pressure may prevent expansion of an aortic aneurysm and surgery to repair an expanding aneurysm may prevent aortic rupture.

• #48 Marfan Syndrome: Symptoms, Treatment, Life Expectancy

  https://www.verywellhealth.com/marfan-syndrome-5113945

  If someone in the family has been diagnosed with Marfan syndrome, its a good idea to have all first-degree relatives (siblings, parents, and children) tested. Because symptoms are sometimes subtle, its important to seek medical evaluation. This might help prevent a life-threatening complication from undiagnosed Marfan syndrome.

• #49 Marfan Syndrome – Harvard Health

  https://www.health.harvard.edu/a_to_z/marfan-syndrome-a-to-z

  There is no way to prevent Marfan syndrome. People with Marfan syndrome and their relatives may wish to seek genetic counseling to talk about their risk of passing the disorder to their children. A person with Marfan syndrome has a 50% risk of passing the abnormal gene to child. Complications of Marfan syndrome may be prevented with proper care; as examples, medications to lower blood pressure may prevent expansion of an aortic aneurysm and surgery to repair an expanding aneurysm may prevent aortic rupture.

• #50 Marfan Syndrome: 7 Ways to Help Manage Symptoms – Dr. Axe

  https://draxe.com/health/marfan-syndrome/

  There is no true way to prevent Marfan syndrome, although you may be able to prevent some symptoms or complications of the disease by getting early and frequent treatment. […] If you have Marfan syndrome and wish to learn more about preventing the disease in your children, you can speak with a genetic counselor about your options.

• #51 Marfan’s Syndrome (Causes, Symptoms and Treatment)

  https://patient.info/doctor/marfans-syndrome-pro

  Management requires a multidisciplinary team which should include a geneticist, an ophthalmologist, a cardiologist and an orthopaedic surgeon. […] Psychological support may be required in order to help patients cope with the fact that they have a chronic disease which may shorten their life and affect offspring. Many patients also have poor self-esteem and impaired relationships/sex lives due to concerns about their bodily appearance. […] The patient should be advised to avoid exertion at maximal capacity, vigorously competitive or contact sports (fatal aortic dissection and rupture in young adults is often due to MFS). Scuba diving, weightlifting, climbing steep inclines and gymnastics should be avoided due to dangers of raised intra-thoracic/intra-aortic pressures. […] Prophylactic beta-blockers are used to reduce mean arterial pressure and pulse rate significantly. Studies have suggested that introducing them at an early age under the supervision of a paediatrician or cardiologist lowers the risk of aortic rupture and slowed aortic root dilatation.

• #52 Marfan Syndrome and Other Connective Tissue Disorders | Duke Health

  https://www.dukehealth.org/treatments/heart/marfan-syndrome-and-connective-tissue-disorders

  If it is determined that your aorta is enlarged or is at risk of enlargement, you may be prescribed medications that lower blood pressure to reduce your risk of aortic aneurysm and dissection. […] Our experienced care team creates a personalized, long-term plan to monitor your individual symptoms and condition. We are your doctors for life. Our experts include cardiologists, geneticists, orthopaedists, ophthalmologists, neurologists, surgeons, and other specialists who can detect and help prevent serious complications.

• #53 Marfan Syndrome – Children’s Health Issues – Merck Manual Consumer Version

  https://www.merckmanuals.com/home/children-s-health-issues/connective-tissue-disorders-in-children/marfan-syndrome

  Years ago, most people with Marfan syndrome died in their 40s. Today, people who have Marfan syndrome have nearly the same life expectancy as people who do not have this condition. Prevention of aortic dissection and rupture probably explains why the life span has been lengthened. […] Treatment of Marfan syndrome is aimed at preventing and/or fixing dangerous complications. […] Pregnant women are at especially high risk of complications with their aorta, so repair of the aorta before conception should be discussed. […] People should receive genetic counseling.

• #54

  https://www.nni.com.sg/patient-care/conditions-treatments/marfan-syndrome

  Marfan Syndrome – How to prevent? […] Management measures may include: […] Antibiotic prophylaxis may be required before surgery and dental procedures in some cases. Please discuss with your doctor for the latest update on antibiotic prophylaxis. […] There are also important lifestyle considerations for an individual with Marfan syndrome: […] Ensure a balanced diet, engage in low-intensity exercise and avoid smoking. These measures are also good for general health. […] Avoid heavy weightlifting and contact sports. Discuss with your doctor about recommendations for exercise and activities. […] With proper management of the cardiovascular manifestations, the life expectancy of someone with Marfan syndrome approximates that of the general population. […] For individuals with Marfan syndrome who are pregnant: […] Pregnant women with Marfan syndrome may be at high risk of obstetric and cardiac complications due to increased stress of the aortic wall especially during delivery. Please consult your doctor for preconception care and counselling.

• #55 Marfan Syndrome: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

  The goal of heart surgery for Marfan syndrome is to prevent your aorta from dissecting or rupturing and to treat valve problems. […] Life with Marfan syndrome may feel like spinning through a revolving door of medical appointments, treatments and lifestyle changes. But all those check-ins can help prevent complications of Marfan syndrome so you can live the healthiest life possible.

• #56 Marfan Syndrome Treatment – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/heart-vascular/marfan-syndrome/treatments

  There is no cure for Marfan syndrome currently, but the symptoms and complications can be managed through medical treatments, nonsurgical interventions and surgery as needed. […] Regular monitoring can help detect any health problems early to prevent serious complications. […] Treatment typically focuses on managing symptoms and preventing complications, and may involve medication, surgery or other interventions. […] Treatment may include medications, lifestyle modifications and/or surgery to help manage the condition and prevent complications. […] Regularly monitoring your heart and blood vessels is essential to be aware of any increased risks for cardiovascular complications such as aortic dissection, aneurysms and valve problems. […] Medication may be recommended to reduce the risk of aortic dissection or any associated conditions, such as scoliosis or eye problems. […] Adopting a healthy lifestyle can help long term. This includes maintaining a healthy weight, eating a balanced diet, getting regular exercise, avoiding smoking and managing stress.

Zobacz więcej