Materiały źródłowe

• #1 Getting Diagnosed – Marfan Foundation

  https://marfan.org/expectations/diagnosis/

  Marfan syndrome is a serious, potentially life-threatening condition, and an early, accurate diagnosis is essential for proper treatment and management. […] A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue conditions, including: A detailed medical and family history, including information about any family member who may have the condition or who had an early, unexplained, heart-related death. A complete physical examination. […] You should also have tests to identify Marfan features that are not visible during the physical exam, including: Echocardiogram. This test looks at your heart, its valves, and the aorta (the blood vessel that carries blood from the heart to the rest of the body). Electrocardiogram (EKG). This test checks your heart rate and heart rhythm. An eye examination, including a slit lamp evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils. Genetic testing may be helpful when a diagnosis cannot be determined by clinical evaluation only. Additionally, for individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.

• #1 Rules – Marfan Foundation

  https://marfan.org/dx/rules/

  The diagnosis of Marfan syndrome relies on a set of defined clinical criteria (the Ghent nosology) developed to facilitate accurate recognition of the syndrome and improve patient management and counseling. […] To decrease the risk of premature or missed diagnosis, an international panel of experts revised the criteria in 2010. It was published in the Journal of Medical Genetics. […] The new diagnostic criteria puts more weight on the cardiovascular manifestations of the disorder. Aortic root aneurysm and ectopia lentis (dislocated lenses) are now cardinal features. […] In the absence of any family history, the presence of these two features is sufficient for the unequivocal diagnosis of Marfan syndrome. […] In the absence of one of these two cardinal features, the presence of an FBN1 mutation or positive systemic score is required.

• #1 Rules – Marfan Foundation

  https://marfan.org/dx/rules/

  In some cases, genetic testing can be helpful. […] Experts expect that, while use of new diagnostic criteria makes a definitive diagnosis of Marfan syndrome take longer, it decreases the risk of premature or missed diagnosis and facilitates a worldwide discussion of risk and follow-up/management guidelines. […] The 2010 Revised Ghent Nosology for Marfan syndrome relies on seven rules as indicated below: […] In the absence of family history: […] Aortic Root Dilatation Z score 2 AND Ectopia Lentis = Marfan syndrome. […] The presence of aortic root dilatation (Z-score 2 when standardized to age and body size) or dissection and ectopia lentis allows the unequivocal diagnosis of Marfan syndrome, regardless of the presence or absence of systemic features except where these are indicative of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome.

• #1 Rules – Marfan Foundation

  https://marfan.org/dx/rules/

  Aortic Root Dilatation Z score 2 AND FBN1 = Marfan syndrome. […] The presence of aortic root dilatation (Z 2) or dissection and the identification of a bona fide FBN1 mutation are sufficient to establish the diagnosis, even when ectopia lentis is absent. […] Aortic Root Dilatation Z score 2 AND Systemic Score 7pts = Marfan syndrome. […] Where aortic root dilatation (Z 2) or dissection is present, but ectopia lentis is absent and the FBN1 status is either unknown or negative, a Marfan syndrome diagnosis is confirmed by the presence of sufficient systemic findings ( 7 points, according to a scoring system) confirms the diagnosis. […] Ectopia lentis AND a FBN1 mutation associated with Aortic Root Dilatation = Marfan syndrome. […] In the presence of ectopia lentis, but absence of aortic root dilatation/dissection, the identification of an FBN1 mutation previously associated with aortic disease is required before making the diagnosis of Marfan syndrome.

• #1 Rules – Marfan Foundation

  https://marfan.org/dx/rules/

  In the presence of family history: […] Ectopia lentis AND Family History of Marfan syndrome (as defined above) = Marfan syndrome. […] The presence of ectopia lentis and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome. […] A systemic score 7 points AND Family History of Marfan syndrome (as defined above) = Marfan syndrome. […] A systemic score of greater than or equal to 7 points and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome. […] Aortic Root Dilatation Z score 2 above 20 yrs. old, 3 below 20 yrs. old + Family History of Marfan syndrome (as defined above) = Marfan syndrome. […] The presence of aortic root dilatation (Z 2 above 20 yrs. old, 3 below 20 yrs. old) and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome. […] Caveat: Without discriminating features of Shprintzen Goldberg syndrome, Loeys-Dietz syndrome, or vascular Ehlers Danlos syndrome AND after TGFBR1/2, SMAD3, TGFB2, TGFB3, collagen biochemistry, COL3A1 testing if indicated other conditions/genes will emerge with time.

• #1 Marfan Syndrome – Diagnosis | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/marfan-syndrome/diagnosis

  You will be diagnosed with Marfan syndrome based on your medical and family history, a physical exam, and test results. […] If you are diagnosed with Marfan syndrome, your parents, siblings, and children should be screened for the disorder, even if they do not have symptoms. […] To screen for Marfan syndrome, your healthcare provider may do a physical exam, including a check for certain features often found in people who have the condition. […] Your healthcare provider will ask about symptoms, your medical history, and your familys medical history. For example, you may be asked whether any of your family members have Marfan syndrome, or have had an aortic aneurysm or heart problems. […] Your provider will look for signs of Marfan syndrome. For example, they may check the curve of your spine and the shape of your feet.

• #1 Marfan Syndrome | Nationwide Children’s Hospital

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

  How Is Marfan Syndrome Diagnosed? The diagnosis of Marfan Syndrome, therefore is made based on the clinical criteria, known as the Ghent criteria. The diagnostic criteria requires there to be two „major criteria” in two different systems (one of which can be family history), plus „involvement” of a third system. Major features are commonly seen in patients with Marfan Syndrome, but are uncommon in people without Marfan Syndrome; whereas „minor features” are common both in patients with Marfan Syndrome, but also in the general population. Alone, the presence of minor features does not indicate Marfan Syndrome. […] The clinical evaluation includes: […] Complete family history to identify additional relatives who have the signs and symptoms of Marfan Syndrome. Having a first-degree relative with Marfan Syndrome, carrying genetic markers consistent with Marfan syndrome or a mutation in a gene that causes Marfan Syndrome are major criteria in the Family History system.

• #1 Diagnosing Marfan Syndrome | NYU Langone Health

  https://nyulangone.org/conditions/marfan-syndrome/diagnosis

  Your doctor may order a CT scan or CT angiogram of the chest to check for an aneurysm or dilation (bulging) in the aortic root or in other parts of the aorta. […] An echocardiogram is a test that bounces high-frequency sound waves off the heart to produce images of the aorta and the valves. […] Your doctor may use transesophageal echocardiography, an ultrasound examination of the aorta through the esophagus. […] A magnetic resonance angiogram is a type of MRI scan that uses a magnetic field and radio waves to provide computerized, three-dimensional images of the aorta. […] Your doctor may refer you to an ophthalmologist for an eye examination. They check for differences in the shape of the eyes, ectopia lentis, a detached retina, and nearsightedness. These all can be complications of Marfan syndrome.

• #1 Marfan syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/514

  1st investigations to order include echocardiography, slit-lamp eye examination with intra-ocular pressure measurement, CT scan, thorax, and MRI, thorax. […] Investigations to consider include blood screening for fibrillin-1 (FBN-1) gene mutation, CXR, CT scan, abdomen, MRI, abdomen, ultrasound, abdomen, CT scan, lower spine, MRI, lower spine, and plasma homocysteine.

• #1 Marfan Syndrome | Nationwide Children’s Hospital

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

  Dilated pupil and slit lamp examination of the eyes. Dislocation or subluxation of the lens of the eyes is the major Ocular system criterion. […] Skeletal survey with measurement of the height, arm span, upper and lower segments, and assessment of the breastbone (sternum), spine, feet, hands, elbows, hips, facial configuration and palate, and joints. The presence of 4 of 8 specific skeletal features indicates a major Skeletal system criterion. […] Cardiovascular/aortic imaging study, such as transthoracic or transesophageal echocardiogram, cardiac MRI, cardiac CT, or catheterization with angiography of the aorta and heart. Dilation or a history of dissection in the portion of the aorta that exits the heart (ascending aorta) is the major Cardiac criterion. […] In cases where there are several suggestive features of Marfan Syndrome, and it is difficult to decide if the person has Marfan Syndrome or not, imaging studies of the lumbosacral spine can be exceedingly helpful. […] Whenever patients do not meet clinical criteria for a Marfan Syndrome diagnosis, other possible disorders are considered.

• #1 Marfan Syndrome | Heart & Vascular | Loyola Medicine

  https://www.loyolamedicine.org/services/heart-and-vascular/heart-vascular-conditions/vascular-diseases/marfan-syndrome

  Marfan syndrome is one of the many genetic disorders diagnosed and treated by the highly skilled specialists at Loyola Medicine. […] How is Marfan Syndrome Diagnosed? […] Loyola’s multidisciplinary team of doctors, including vascular and valve specialists, approach the diagnosis and treatment of Marfan syndrome with great detail and care. In addition to a complete physical exam and family medical history your doctor may perform the following tests: […] CT scan (computed tomography) […] DNA testing […] Echocardiogram […] MRI (magnetic resonance imaging) […] Tonometry (eye pressure test) […] Transesophageal echocardiogram […] Vascular tests.

• #1 Marfan syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/marfan-syndrome

  Gene testing can be organised for some families who meet the diagnostic criteria. A specific collection of major characteristic features must be present to establish the syndrome. A confirmed diagnosis requires coordinated evaluation by a cardiologist, ophthalmologist, orthopaedic surgeon and geneticist, all experienced with Marfan syndrome. […] The condition is diagnosed using a number of tests, including: physical examination, family history, echocardiogram (picture of the heart using sound waves), eye examination, using a slit lamp to detect dislocated lenses, skeletal tests such as x-rays, comparison of results with a genetic database. […] Research into the condition is ongoing, with the hope of devising more specific genetic tests for earlier and more accurate diagnosis.

• #1 Getting Diagnosed – Marfan Foundation

  https://marfan.org/expectations/diagnosis/

  A coordinated clinic is the best place to go for Marfan syndrome and related conditions care. A coordinated clinic provides expertise in all Marfan-related specialties: genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints). […] If there is not a coordinated clinic in your area, we recommend making an appointment with a geneticist or cardiologist. They are usually the specialists with the most expertise in these conditions and can provide appropriate referrals to other necessary specialists. […] Genetic testing can provide helpful information in some cases. For individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk. Some of the features of Marfan syndrome can be found in disorders related to Marfan syndrome; therefore, genetic testing may be helpful when a diagnosis cannot be determined through an exam by healthcare professionals. […] It is possible for you to have one or more features of Marfan syndrome, but not enough for you to have a Marfan syndrome diagnosis. You may need additional exams by other healthcare professionals and additional genetic testing to see if you have a condition that is related to Marfan syndrome.

• #1 About Marfan Syndrome

  https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome

  The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the presence of characteristic clinical findings in ocular, skeletal and cardiovascular systems. There are four major clinical diagnostic features: […] Major criteria for establishing the diagnosis in a family member also include having a parent, child, or sibling who meets major criteria independently, the presence of an FBN-1 mutation known to cause the syndrome, or a haplotype around FBN-1 inherited by descent and identified in a familial Marfan patient(also known as genetic linkage to the gene). […] The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 – 93 percent of the mutations and is available in clinical laboratories. However patients negative for the test for gene mutation should be considered for evaluation for other conditions that have similar features of Marfan syndrome such as Dietz syndrome, Ehlers Danlos syndrome, and homocystinura.

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

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

  Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. […] Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. […] Genetic testing is often used to confirm the diagnosis of Marfan syndrome.

• #1 Marfan syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/marfan-syndrome/

  Most patients with Marfan syndrome have a pathogenic or likely pathogenic variant in the FBN1 gene, which encodes the connective tissue protein fibrillin 1. […] The diagnosis of Marfan syndrome is most commonly made using the 2010 revised Ghent criteria. These are based on the presence or absence of family history, physical examination findings, aortic root measurements and results of genomic testing (if appropriate). Genomic testing should be considered following assessment by a clinical geneticist or a clinician with expertise in aortopathies. […] At diagnosis, a baseline ophthalmic examination, echocardiogram and CT or MRI of the aorta should be performed. Monitoring of the aorta following the baseline assessment should be repeated at regular intervals (as dictated by aortic measurements usually yearly).

• #1 Marfan syndrome – UF Health

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

  The health care provider will perform a physical exam. The joints may move around more than normal. There may also be signs of: […] An eye exam may show: […] The following tests may be performed: […] An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves. Depending on the results, you may need this test less often than yearly.

• #1

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

  Marfan syndrome can be difficult to diagnose because the signs and symptoms can vary from person to person. […] In most cases, a diagnosis will be based on a thorough physical examination and a detailed assessment of a person’s medical and family history. […] Your GP may compare the signs and symptoms against the Ghent criteria. […] To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different symptoms. […] In most cases, a diagnosis of Marfan syndrome will be made from the physical features and symptoms of the syndrome. […] Prenatal testing for Marfan syndrome can be carried out approximately 11 to 14 weeks into the pregnancy using chorionic villus sampling (CVS). […] Amniocentesis can also be used to test for Marfan syndrome. […] Although prenatal tests may show whether your child has the defective gene that causes Marfan syndrome, the tests will not give any indication as to how serious their symptoms will be.

• #1 Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies

  https://www.mdpi.com/2075-4418/13/13/2284

  MFS is an inherently complex condition, with significant inter- and intrafamilial variability. […] This clinical heterogeneity, combined with manifestations appearing in childhood, the prevalence of FBN1 mutations across various fibrillinopathies, and a high occurrence of de novo mutations, can pose diagnostic challenges. […] The main features detected in MFS are listed below. […] The primary causes of morbidity in MFS stem from cardiovascular complications: aortic dilation at the sinuses of Valsalva, susceptibility to aortic tears and ruptures, mitral and tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. […] Aortic aneurysm is one of the pivotal features in the clinical diagnosis of Marfan syndrome, and the dissection of such an aneurysm poses the greatest threat to life.

• #1 Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies

  https://www.mdpi.com/2075-4418/13/13/2284

  Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). […] Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible. To date, the diagnosis of the syndrome has relied upon a systemic score calculation as well as DNA mutation identification. […] The early diagnosis of MFS allows for the initiation of proactive treatment approaches involving beta-blockers and angiotensin I (AT-1) antagonists, which can effectively halt the progression of aortic root dilation. […] To date, despite the existence of a targeted genetic test, the diagnosis of MFS is based on specific clinical criteria; the Ghent criteria were codified in 1996 and later revised in 2010.

• #2 Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies

  https://www.mdpi.com/2075-4418/13/13/2284

  Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (FBN1). […] Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible. To date, the diagnosis of the syndrome has relied upon a systemic score calculation as well as DNA mutation identification. […] The early diagnosis of MFS allows for the initiation of proactive treatment approaches involving beta-blockers and angiotensin I (AT-1) antagonists, which can effectively halt the progression of aortic root dilation. […] To date, despite the existence of a targeted genetic test, the diagnosis of MFS is based on specific clinical criteria; the Ghent criteria were codified in 1996 and later revised in 2010.

• #2 Marfan syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Marfan_syndrome

  Diagnosis is often based on the Ghent criteria, family history and genetic testing (DNA analysis). […] Diagnostic criteria of MFS were agreed upon internationally in 1996. […] A diagnosis is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individual for example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual. […] In 2010, the Ghent nosology was revised, and new diagnostic criteria superseded the previous agreement made in 1996. The seven new criteria can lead to a diagnosis. […] In the absence of a family history of MFS: Aortic root Z-score 2 AND ectopia lentis; Aortic root Z-score 2 AND an FBN1 mutation; Aortic root Z-score 2 AND a systemic score* 7 points; Ectopia lentis AND an FBN1 mutation with known aortic pathology. […] In the presence of a family history of MFS (as defined above): Ectopia lentis; Systemic score* 7; Aortic root Z-score 2.

• #2 Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies

  https://www.mdpi.com/2075-4418/13/13/2284

  According to the 1996 Ghent criteria, the diagnosis requires at least the presence of a major criterion in two different systems (aortic root dilatation/aneurysm, ectopia lentis, dural ectasia, severe skeletal involvement) and one minor criterion in a third system (myopia, mitral valve prolapse, mild skeletal involvement, skin striae, and pneumothorax). […] The revised Ghent criteria set out in 2010 give more weight to aortic root involvement and ectopia lentis as cardinal features, leading to the definitive diagnosis of MFS when these symptoms manifest together. […] Positive family history, as well as pathogenic FBN1 mutation, are important for a definitive diagnosis. […] The Kid Short Marfan score (Kid-SMS) was developed. It is an easily executable tool for the risk stratification of pediatric patients suspected of MFS.

• #2 Getting Diagnosed – Marfan Foundation

  https://marfan.org/expectations/diagnosis/

  Marfan syndrome is a serious, potentially life-threatening condition, and an early, accurate diagnosis is essential for proper treatment and management. […] A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue conditions, including: A detailed medical and family history, including information about any family member who may have the condition or who had an early, unexplained, heart-related death. A complete physical examination. […] You should also have tests to identify Marfan features that are not visible during the physical exam, including: Echocardiogram. This test looks at your heart, its valves, and the aorta (the blood vessel that carries blood from the heart to the rest of the body). Electrocardiogram (EKG). This test checks your heart rate and heart rhythm. An eye examination, including a slit lamp evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils. Genetic testing may be helpful when a diagnosis cannot be determined by clinical evaluation only. Additionally, for individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.

• #2 Marfan syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/514

  Skin striae, dural ectasia, hernias, pneumothorax, and emphysematous bullae on chest x-ray may also be noted. […] Key diagnostic factors include presence of risk factors, tall stature, wide arm span, high level of pubic bone, high arched palate, arachnodactyly, positive wrist sign, positive thumb sign, pectus excavatum (funnel chest), pectus carinatum (pigeon breast), scoliosis, flat feet (pes planus), dislocated/subluxed eye lens, myopia and/or astigmatism, retinal abnormalities, joint hypermobility, aortic valve murmur, mitral valve murmur, history of treatment for dental crowding, history of myopia and/or astigmatism, and reduced elbow extension. […] Other diagnostic factors include glaucoma, history of spontaneous pneumothorax, striae, low back ache, joint pain, inguinal/abdominal/incisional hernias, dyspnoea, and signs of heart failure.

• #2 Marfan Syndrome | Nationwide Children’s Hospital

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

  How Is Marfan Syndrome Diagnosed? The diagnosis of Marfan Syndrome, therefore is made based on the clinical criteria, known as the Ghent criteria. The diagnostic criteria requires there to be two „major criteria” in two different systems (one of which can be family history), plus „involvement” of a third system. Major features are commonly seen in patients with Marfan Syndrome, but are uncommon in people without Marfan Syndrome; whereas „minor features” are common both in patients with Marfan Syndrome, but also in the general population. Alone, the presence of minor features does not indicate Marfan Syndrome. […] The clinical evaluation includes: […] Complete family history to identify additional relatives who have the signs and symptoms of Marfan Syndrome. Having a first-degree relative with Marfan Syndrome, carrying genetic markers consistent with Marfan syndrome or a mutation in a gene that causes Marfan Syndrome are major criteria in the Family History system.

• #2 Diagnosing Marfan Syndrome | NYU Langone Health

  https://nyulangone.org/conditions/marfan-syndrome/diagnosis

  Your doctor may order a CT scan or CT angiogram of the chest to check for an aneurysm or dilation (bulging) in the aortic root or in other parts of the aorta. […] An echocardiogram is a test that bounces high-frequency sound waves off the heart to produce images of the aorta and the valves. […] Your doctor may use transesophageal echocardiography, an ultrasound examination of the aorta through the esophagus. […] A magnetic resonance angiogram is a type of MRI scan that uses a magnetic field and radio waves to provide computerized, three-dimensional images of the aorta. […] Your doctor may refer you to an ophthalmologist for an eye examination. They check for differences in the shape of the eyes, ectopia lentis, a detached retina, and nearsightedness. These all can be complications of Marfan syndrome.

• #2 Marfan Syndrome (MFS) Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1258926-workup

  No specific laboratory test exists with which to make the diagnosis of Marfan syndrome (MFS). […] Molecular genetic testing can be performed to assist in making the diagnosis of MFS in the following two clinical situations: […] In general, the diagnosis is made on a clinical basis using the previously described Ghent criteria (see Presentation). […] Once electrocardiography (ECG) shows abnormal findings in the patient with MFS, transesophageal echocardiography (TEE) or MRI is usually the next modality that is used to elucidate any clinically significant structural abnormalities. […] To identify aortic root enlargement, either a cross-sectional echocardiogram in the parasternal long-axis view or a standard MRI should be performed. […] Once an echocardiogram or MRI is obtained, the patient’s results can be compared with their body size with the use of nomograms that are appropriate for the patient’s age.

• #2 Marfan Syndrome (MFS) Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/1258926-workup

  Because the aortic root diameter typically does not change, the expected aortic root diameter (determined with the above equation) is then compared to the patient’s actual aortic root dimensions as seen on either echocardiography or MRI. […] In patients with MFS, the risk of developing aortic regurgitation is directly related to the overall size of the aortic root. […] ECG is useful because valvular abnormalities are common in MFS; atrial and ventricular electrical conduction abnormalities, as well as cardiomyopathy, may be present in some patients. […] ECG represents the best initial screening test for cardiac dysfunction in MFS because more than 80% of the patients have cardiac dysfunction over the course of their lives.

• #2 Marfan Syndrome Causes & Diagnosis | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/heart-and-vascular/conditions-and-treatments/marfan-and-related-disorders/causes-and-diagnoses

  An evaluation for Marfan syndrome at the Marfan Syndrome and Related Disorders Clinic may include the following tests for diagnosis and follow-up: […] Echocardiogram (ECHO) to screen for the presence of aortic disease and mitral valve disease. […] Cardiac magnetic resonance imaging (MRI) or ECG-gated computed tomography (CT) angiogram which accurately shows the size of the aortic root and detailed images of the heart chambers and valves.

• #2 Marfan Syndrome | Nationwide Children’s Hospital

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

  Dilated pupil and slit lamp examination of the eyes. Dislocation or subluxation of the lens of the eyes is the major Ocular system criterion. […] Skeletal survey with measurement of the height, arm span, upper and lower segments, and assessment of the breastbone (sternum), spine, feet, hands, elbows, hips, facial configuration and palate, and joints. The presence of 4 of 8 specific skeletal features indicates a major Skeletal system criterion. […] Cardiovascular/aortic imaging study, such as transthoracic or transesophageal echocardiogram, cardiac MRI, cardiac CT, or catheterization with angiography of the aorta and heart. Dilation or a history of dissection in the portion of the aorta that exits the heart (ascending aorta) is the major Cardiac criterion. […] In cases where there are several suggestive features of Marfan Syndrome, and it is difficult to decide if the person has Marfan Syndrome or not, imaging studies of the lumbosacral spine can be exceedingly helpful. […] Whenever patients do not meet clinical criteria for a Marfan Syndrome diagnosis, other possible disorders are considered.

• #2 Marfan syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/514

  1st investigations to order include echocardiography, slit-lamp eye examination with intra-ocular pressure measurement, CT scan, thorax, and MRI, thorax. […] Investigations to consider include blood screening for fibrillin-1 (FBN-1) gene mutation, CXR, CT scan, abdomen, MRI, abdomen, ultrasound, abdomen, CT scan, lower spine, MRI, lower spine, and plasma homocysteine.

• #2 Marfan syndrome — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/marfan-syndrome/

  Most patients with Marfan syndrome have a pathogenic or likely pathogenic variant in the FBN1 gene, which encodes the connective tissue protein fibrillin 1. […] The diagnosis of Marfan syndrome is most commonly made using the 2010 revised Ghent criteria. These are based on the presence or absence of family history, physical examination findings, aortic root measurements and results of genomic testing (if appropriate). Genomic testing should be considered following assessment by a clinical geneticist or a clinician with expertise in aortopathies. […] At diagnosis, a baseline ophthalmic examination, echocardiogram and CT or MRI of the aorta should be performed. Monitoring of the aorta following the baseline assessment should be repeated at regular intervals (as dictated by aortic measurements usually yearly).

• #2 Marfan Syndrome – Diagnosis | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/marfan-syndrome/diagnosis

  Your doctor may recommend one or more of the tests below to help diagnose Marfan syndrome. […] Genetic testing uses blood tests to detect mutations in the FBN1 genes, even if you have no symptoms. Many different mutations within the FBN1 gene can cause Marfan syndrome, so no single blood test can diagnose the condition.

• #2 Marfan Syndrome and Genetic Testing | Genome Medical

  https://www.genomemedical.com/marfan-syndrome-and-genetic-testing/

  Marfan syndrome can be diagnosed based on clinical features alone, genetic testing of the FBN1 gene and related connective tissue conditions, like Loeys-Dietz syndromes, is important. […] Genetic testing can help confirm when there is suspicion that a person may have Marfan syndrome but doesn’t yet have enough features to meet the criteria for clinical diagnosis. […] It is recommended that anyone found to have an FBN1 gene disease-causing variant be evaluated annually (every year) by a cardiologist and ophthalmologist. […] Confirming that someone has a genetic variant in the FBN1 gene versus a different gene is important because it can impact a person’s medical care. […] Once an individual with Marfan syndrome has had genetic testing and an underlying genetic variant has been identified, this allows the rest of the family to have testing for the same variant. Testing those at-risk family members helps determine if they have Marfan syndrome and are at risk for Marfan-related features, like aortic aneurysms and dissection, and helps guide their screening recommendations.

• #2 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication | Test Fact Sheet

  https://arupconsult.com/ati/marfan-syndrome

  Approximately 95-98% depending on accuracy of clinical diagnosis. […] A negative result does not exclude a diagnosis of MFS or other FBN1-related disorders. […] Diagnostic errors can occur due to rare sequence variations. […] Interpretation of this test result may be impacted if this patient has had an allogeneic stem cell transplantation. […] A positive result confirms diagnosis of MFS or FBN1-related disorder in a symptomatic individual. […] A negative result reduces possibility of, but does not exclude, a diagnosis of MFS.

• #2 Marfan Syndrome Diagnosis Methods – Klarity Health Library

  https://my.klarity.health/marfan-syndrome-diagnosis-methods/

  Proper diagnosis requires a comprehensive evaluation of clinical and genetic characteristics to differentiate these conditions accurately. […] Management of Marfan syndrome requires a multifaceted approach involving early diagnosis, genetic testing, imaging techniques, and prenatal screening. […] Clinical diagnosis through physical examination and family history assessment is pivotal in identifying key features like skeletal abnormalities and ocular manifestations. […] Genetic testing targeting FBN1 gene mutations confirms the diagnosis and aids in assessing cardiovascular risks. […] Imaging modalities such as echocardiography and MRI play crucial roles in detecting aortic abnormalities. […] Prenatal screening offers insights into potential obstetric complications. […] Distinguishing Marfan Syndrome from similar conditions requires a comprehensive evaluation of clinical and genetic characteristics.

• #2 About Marfan Syndrome

  https://www.genome.gov/Genetic-Disorders/Marfan-Syndrome

  The diagnosis of Marfan syndrome is a clinical diagnosis that is based on family history and the presence of characteristic clinical findings in ocular, skeletal and cardiovascular systems. There are four major clinical diagnostic features: […] Major criteria for establishing the diagnosis in a family member also include having a parent, child, or sibling who meets major criteria independently, the presence of an FBN-1 mutation known to cause the syndrome, or a haplotype around FBN-1 inherited by descent and identified in a familial Marfan patient(also known as genetic linkage to the gene). […] The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 – 93 percent of the mutations and is available in clinical laboratories. However patients negative for the test for gene mutation should be considered for evaluation for other conditions that have similar features of Marfan syndrome such as Dietz syndrome, Ehlers Danlos syndrome, and homocystinura.

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

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

  Marfan’s syndrome diagnosis is usually established using the Ghent criteria, which were revised in 2010. The clinical diagnostic criteria are family history and systemic features, particularly the presence of ectopia lentis and an increased diameter of the aortic root, plus molecular genetic testing. Basing diagnosis solely on molecular data is not possible, as mutation detection is far from perfect and some mutations of fibrillin do not cause the syndrome. […] Management requires a multidisciplinary team which should include a geneticist, an ophthalmologist, a cardiologist and an orthopaedic surgeon. […] Expert input is required, as the risk of aortic rupture is vastly increased. There is also a 50% chance that the baby will be affected. Therefore genetic counselling is needed.

• #2 Challenges in the diagnosis of Marfan syndrome | The Medical Journal of Australia

  https://www.mja.com.au/journal/2006/184/12/challenges-diagnosis-marfan-syndrome

  Routine evaluation at Marfan Clinic involves cardiological assessment including echocardiography, and ophthalmological review including dilatation of the pupils for slit-lamp examination and keratometry. […] Because at least 25% of cases of MFS result from spontaneous mutations, the absence of other confirmed cases in the family does not rule out MFS. […] The genetic counsellor also provides support for addressing psychosocial issues that may have arisen because of the condition. […] As there are no common mutations, genetic testing involves screening the entire FBN1 gene. […] In the family of an individual with confirmed MFS, the genetic status of other family members can be difficult to ascertain on the basis of the clinical features alone. […] We reserve DNA testing for such families to enable more accurate identification of individuals at risk.

• #2 Marfan syndrome. Part 1: pathophysiology and diagnosis | Nature Reviews Cardiology

  https://www.nature.com/articles/nrcardio.2010.30

  Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. […] However, the diagnosis of patients with Marfan syndrome should be made according to Ghent criteria and requires a comprehensive clinical assessment of multiple organ systems. […] Genetic testing can be useful in the diagnosis of selected cases. […] Marfan syndrome typically affects cardiovascular, skeletal, ocular, and neural systems and its diagnosis is based on clinical (Ghent) criteria.

• #2 Marfan Syndrome – Dr Andrie Stroebel – Gold Coast Cardiothoracic Surgeon, Southport

  https://andriestroebel.com.au/our-services/marfan-syndrome/

  Marfan syndrome is usually diagnosed on clinical grounds, although additional imaging and genetics tests can also be helpful. […] Early diagnosis and treatment are necessary to prevent these complications and ensure a good quality of life for those affected. […] Regular monitoring is key to the early detection, prevention and treatment of complications.

• #2 Orphanet: Marfan syndrome

  https://www.orpha.net/en/disease/detail/558

  Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. […] Diagnosis is based on clinical signs and family history. However, as a result of the widely variable clinical picture, the diagnosis can be difficult to establish. International diagnostic criteria (Ghent criteria) based on major and/or minor clinical signs have been established to aid diagnosis. […] Prenatal genetic diagnosis is possible for families in which the causal mutation has been identified.

• #2

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

  Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. […] In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person’s medical and family history.

• #2 Marfan Syndrome | Marfan Trust

  https://www.marfantrust.org/pages/15-marfan-syndrome

  Marfan syndrome and related conditions can shorten lives, especially if left untreated. […] It is vital to get an appropriate diagnosis, learn about recommended treatments, and take special precautions for physical activity and other situations, like pregnancy, as soon as possible. […] This makes it crucial for people with Marfan syndrome and related conditions to receive accurate, early diagnosis and treatment as this ensures that they receive the best possible care. […] Generally, the earlier some treatments are started, the better the outcomes are likely to be. […] Experts in Marfan syndrome estimate that nearly half the people who have the condition don’t know it. […] The Marfan syndrome section on our Resources page which has detailed information on being diagnosed and living with Marfan syndrome.

• #2 Marfan Syndrome Diagnosis Methods – Klarity Health Library

  https://my.klarity.health/marfan-syndrome-diagnosis-methods/

  Marfan syndrome is a rare genetic condition that affects the connective tissue, leading to serious complications involving the cardiovascular system (your heart and blood vessels) but also the entire body. […] Early diagnosis of Marfan Syndrome is crucial due to its potential cardiovascular complications, such as aortic dissection and aortic aneurysm, which can lead to significant health consequences, physical incapacities, and even death. […] This article focuses on the diagnosis methods of Marfan syndrome, presenting the clinical, genetic, imagistic, and prenatal characteristics, including an overview of the differential diagnosis, a very important step in the diagnostic process of any disorder. […] Marfan Syndrome diagnosis involves a comprehensive approach encompassing: Clinical diagnosis, Genetic testing, Imaging techniques, Prenatal diagnosis, Differential diagnosis.

• #2 Marfan Syndrome – GenTAC Alliance

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

  Marfan syndrome is a genetic condition that affects the body’s connective tissue. […] It is important to go to a doctor experienced with Marfan syndrome for a diagnosis. The doctor will examine many parts of the body as part of a complete physical exam. […] Individuals suspected of having Marfan syndrome should also have tests to identify Marfan features that cannot be seen during the physical exam, including: Echocardiogram: This is an ultrasound test to look at the heart, its valves, and the aorta. […] Genetic testing may also provide helpful information. […] Some of the outward features of Marfan syndrome can be found in other disorders related to Marfan syndrome, such as Loeys-Dietz syndrome or isolated thoracic aortic aneurysms. […] Knowing the precise diagnosis is critical to the follow up monitoring and treatment plan.

• #2 Marfan Syndrome and Related Aortic Conditions | Stanford Health Care

  https://stanfordhealthcare.org/medical-clinics/marfan-syndrome-related-aortic-conditions.html

  The Center for Marfan Syndrome and Related Aortic Disorders is the largest of its kind in California and among the nation’s leading centers for the diagnosis and treatment of Marfan syndrome. […] The central mission of our center has always been to be an integrated, multidisciplinary unit that provides comprehensive, cost-effective, state-of-the-art diagnostic evaluation and care for adult and pediatric patients with Marfan syndrome and Aortic disorders. […] We bring together Marfan syndrome specialists in treating aortic disorders to ensure every patient receives a comprehensive diagnostic review and personalized treatment plan. […] Our multidisciplinary approach helps us maintain an innovative edge in treating this difficult condition.

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