Marfan syndrome
Marfan syndrome | |
---|---|
Other names | Marfan's syndrome |
Ehlers-Danlos syndrome | |
Medication | Beta blockers, calcium channel blockers, ACE inhibitors[4][5] |
Prognosis | Often normal life expectancy[1] |
Frequency | 1 in 5,000–10,000[4] |
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue.[6][7][1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes.[1] They also typically have exceptionally flexible joints and abnormally curved spines.[1] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.[1][8] The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected.[1] The severity of the symptoms is variable.[1]
MFS is caused by a mutation in
There is no known cure for MFS.[1] Many of those with the disorder have a normal life expectancy with proper treatment.[1] Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE inhibitors.[4][5] Surgery may be required to repair the aorta or replace a heart valve.[5] Avoiding strenuous exercise is recommended for those with the condition.[4]
About 1 in 5,000 to 1 in 10,000 people have MFS.[4][9] Rates of the condition are similar in different regions of the world.[9] It is named after French pediatrician Antoine Marfan, who first described it in 1896.[10][11]
Signs and symptoms
More than 30
Skeletal system
Most of the readily visible signs are associated with the skeletal system. Many people with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes.
The Steinberg sign, also known as the thumb sign, is one of the clinical examination tests for Marfan disease in the hands. It is a clinical test in which the tip of the thumb extends beyond the palm when the thumb is clasped in the clenched hand.[12][13][14]
Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine scoliosis, thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin. It can also cause pain in the joints, bones, and muscles. Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws. Early osteoarthritis may occur. Other signs include limited range of motion in the hips due to the femoral head protruding into abnormally deep hip sockets.[15][16]
Eyes
In Marfan syndrome, the health of the eye can be affected in many ways, but the principal change is partial
Other signs and symptoms affecting the eye include increased length along an axis of the globe, myopia, corneal flatness, strabismus, exotropia, and esotropia.[16] Those with MFS are also at a high risk for early glaucoma and early cataracts.[17]
Cardiovascular system
The most serious signs and symptoms associated with Marfan syndrome involve the
Because underlying connective tissue abnormalities cause MFS, the incidence of dehiscence of prosthetic mitral valve is increased.[20] Care should be taken to attempt repair of damaged heart valves rather than replacement.[21]
Lungs
Individuals with Marfan Syndrome may be affected by various lung-related problems. One study found that only 37% of the patient sample studied (mean age 32±14 years; M 45%) had normal lung function.
Nervous system
Genetics
Each parent with the condition has a 50% risk of passing the
Pathogenesis
Marfan syndrome is caused by mutations in the FBN1
A transgenic mouse has been created carrying a single copy of a mutant fibrillin-1, a mutation similar to that found in the human gene known to cause MFS. This mouse strain recapitulates many of the features of the human disease and promises to provide insights into the pathogenesis of the disease. Reducing the level of normal fibrillin 1 causes a Marfan-related disease in mice.[33]
Marfanoid–progeroid–lipodystrophy syndrome
Diagnosis
Diagnostic criteria of MFS were agreed upon internationally in 1996.[40] However, Marfan syndrome is often difficult to diagnose in children, as they typically do not show symptoms until reaching pubescence.[41] 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. The following conditions may result from MFS, but may also occur in people without any known underlying disorder.
- Aortic aneurysm or dilation[42]
- Arachnodactyly
- GERD
- Bicuspid aortic valve
- Cysts
- Cystic medial necrosis
- Degenerative disc disease
- Deviated septum[43]
- Dural ectasia
- Early cataracts
- Early glaucoma[44]
- Early osteoarthritis[45]
- Ectopia lentis
- Emphysema[46]
- Above-average height
- Heart palpitations[48]
- Hernias[49]
- High-arched palate
- Hypermobility of the joints
- Kyphosis (hunched back)
- Leaky heart valve
- Malocclusion
- Micrognathia (small lower jaw)[47]
- Mitral valve prolapse[42]
- Myopia (nearsightedness)
- Obstructive lung disease
- Osteopenia (low bone density)[50]
- Pectus carinatum or excavatum
- Pes planus (flat feet)[51]
- Pneumothorax (collapsed lung)[52]
- Retinal detachment[53]
- Scoliosis[54]
- Sleep apnea[24]
- Stretch marks not from pregnancy[55] or obesity
- Teeth crowded[55]
- "Narrow, thin face"[47]
- Temporomandibular joint dysfunction (TMD)[56]
Revised Ghent nosology
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:[57][58]
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
- Points for systemic score:
- Wrist AND thumb sign = 3 (wrist OR thumb sign = 1)
- Pectus carinatum deformity = 2 (pectus excavatum or chest asymmetry = 1)
- Hindfoot deformity = 2 (plain pes planus = 1)
- Dural ectasia = 2
- Protrusio acetabuli = 2
- pneumothorax = 2
- Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis = 1
- Scoliosis or thoracolumbar kyphosis = 1
- Reduced elbow extension = 1
- Facial features (3/5) = 1 (retrognathia)
- Skin striae (stretch marks) = 1
- Myopia > 3 diopters = 1
- Mitral valve prolapse = 1
The thumb sign (Steinberg's sign) is elicited by asking the person to
The wrist sign (Walker-Murdoch sign) is elicited by asking the person to curl the thumb and fingers of one hand around the other wrist. A positive wrist sign is where the little finger and the thumb overlap, caused by a combination of thin wrists and long fingers.[59]
Differential diagnosis
Many other disorders can produce the same type of body characteristics as Marfan syndrome.[60] Genetic testing and evaluating other signs and symptoms can help to differentiate these. The following are some of the disorders that can manifest as "marfanoid":[citation needed]
- Congenital contractural arachnodactyly, also known as Beals-Hecht syndrome
- Ehlers–Danlos syndrome
- Homocystinuria
- Loeys–Dietz syndrome
- MASS phenotype
- Multiple endocrine neoplasia, type 2B
- Shprintzen–Goldberg syndrome[61]
- Stickler syndrome
Management
There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades[when?] and is now similar to that of the average person.[62]
Regular checkups are recommended to monitor the health of the heart valves and the
Physical activity
The American Heart Association made the following recommendations for people with Marfan syndrome with no or mild aortic dilation:[64][65]
- Probably permissible activities: bowling, golf, skating (but not ice hockey), snorkeling, brisk walking, treadmill, stationary biking, modest hiking, and tennis (doubles and singles).
- Intermediate risk: basketball (both full- and half-court), racquetball, squash, running (sprinting and jogging), skiing (downhill and cross-country), soccer, touch (flag) football, baseball, softball, biking, lap swimming, motorcycling, and horseback riding.
- High risk: bodybuilding, weightlifting (non-free and free weights), ice hockey, rock climbing, windsurfing, surfing, and scuba diving.
Medication
Management often includes the use of beta blockers such as propranolol or if not tolerated calcium channel blockers or ACE inhibitors.[4][5] Beta blockers are used to reduce the stress exerted on the aorta and to decrease aortic dilation.[17]
Surgery
If the dilation of the aorta progresses to a significant-diameter aneurysm, causes a dissection or a rupture, or leads to failure of the aortic or other valve, then surgery (possibly a composite aortic valve graft or valve-sparing aortic root replacement) becomes necessary. Although aortic graft surgery (or any vascular surgery) is a serious undertaking it is generally successful if undertaken on an elective basis.[66] Surgery in the setting of acute aortic dissection or rupture is considerably more problematic. Elective aortic valve/graft surgery is usually considered when aortic root diameter reaches 50 millimeters (2.0 inches), but each case needs to be specifically evaluated by a qualified cardiologist. New valve-sparing surgical techniques are becoming more common.[67] As people with Marfan syndrome live longer, other vascular repairs are becoming more common, e.g., repairs of descending thoracic aortic aneurysms and aneurysms of vessels other than the aorta.[citation needed]
The skeletal and ocular manifestations of Marfan syndrome can also be serious, although not life-threatening. These symptoms are usually treated in an appropriate manner for the condition, such as with pain medications or muscle relaxants. Because Marfan syndrome may cause asymptomatic spinal abnormalities, any spinal surgery contemplated on a person Marfan should only follow detailed imaging and careful surgical planning, regardless of the indication for surgery. The ocular complications of MFS can often be treated with surgery. Ectopia lentis can be treated, as artificial lenses can be surgically implanted. In addition, surgery can address glaucoma and cataracts.[17]
Treatment of a spontaneous pneumothorax is dependent on the volume of air in the pleural space and the natural progression of the individual's condition. A small pneumothorax might resolve without active treatment in one to two weeks. Recurrent pneumothoraces might require chest surgery. Moderately sized pneumothoraces might need chest drain management for several days in a hospital. Large pneumothoraces are likely to be medical emergencies requiring emergency decompression.[68]
As an alternative approach, custom-built supports for the aortic root are also being used.[69] As of 2020 this procedure has been used in over 300 people with the first case occurring in 2004.[70][71]
Pregnancy
During pregnancy, even in the absence of preconception cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated. Women with Marfan syndrome, then, should receive a thorough assessment prior to conception, and echocardiography should be performed every six to 10 weeks during pregnancy, to assess the aortic root diameter. For most women, safe vaginal delivery is possible.[72]
Prenatal testing can be performed in females with Marfan syndrome to determine if the condition has been inherited in their child.[41] At 10 to 12 weeks of pregnancy, examining a piece of placental tissue through a test called chorionic villus sampling can be performed to make a diagnosis.[41] Another prenatal test can be performed called amniocentesis at 16 to 18 weeks of pregnancy.[41]
Marfan syndrome is expressed dominantly. This means a child with one parent a bearer of the gene has a 50% probability of getting the syndrome. In 1996, the first
Prognosis
Prior to modern cardiovascular surgical techniques and medications such as losartan, and metoprolol, the prognosis of those with Marfan syndrome was not good: a range of untreatable cardiovascular issues was common. Lifespan was reduced by at least a third, and many died in their teens and twenties due to cardiovascular problems. Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer.[74] Women with Marfan syndrome live longer than men.[16]
Epidemiology
Marfan syndrome affects males and females equally,[75] and the mutation shows no ethnic or geographical bias.[9] Estimates indicate about 1 in 5,000 to 10,000 individuals have Marfan syndrome.[4]
History
Marfan syndrome is named after
Famous patients
Notable people who have or had Marfan syndrome include:
- Isaiah Austin[78]
- Javier Botet[79]
- Austin Carlile[80]
- Bradford Cox[81]
- Euell Gibbons[82][83]
- Emmanuel Giroux[citation needed]
- Flo Hyman[84]
- Jonathan Jeanne[85]
- Vincent Schiavelli[86][87]
- Troye Sivan[88]
- John Tavener[89]
- Peter Mayhew[90]
- Joey Ramone[91]
Other historical figures and celebrities have appeared on lists of people with Marfan syndrome, but from case to case the evidence is speculative, questionable, or even refuted.[92]
- Akhenaten (Artistic depictions show many physical characteristics of people with Marfan, such as elongated skull and larger pelvis with enlarged thighs and spindly calves.[93] Most Egyptologists as of 2021 argue that Akhenaten's portrayals are not the results of a genetic or medical condition, but rather should be interpreted as stylized portrayals influenced by Atenism.[94][95])
- Osama bin Laden (Marfan rumors deemed "likely false" by journalists[96][97])
- Julius Caesar (speculative)
- Robert Johnson (speculative[98])
- Jonathan Larson (speculative)[99]
- Abraham Lincoln (disputed speculative diagnosis based on his physical characteristics and family history[100][101])
- Niccolò Paganini (speculative[102])
- Michael Phelps (disputed by Phelps[84])
- Sergei Rachmaninoff[103][104][105] (disputed: "Rachmaninov did not clearly exhibit any of the other clinical characteristics typical of Marfan's. . . . Nor did he express any of the clinical effects of a Marfan-related syndrome"[106])
- )
See also
- Ehlers–Danlos syndrome
- Kashin–Beck disease
- Loeys–Dietz syndrome
- Nail-Patella syndrome
- Mitral valve prolapse
- Uner Tan syndrome
Bibliography
- Lorenz M. "Lorenz, Maegara "The Mystery of Akhenaton: Genetics or Aesthetics"". Heptune.com. Archived from the original on February 8, 2010. Retrieved March 21, 2010.
- Montserrat D (2003) [2000]. Akhenaten: History, Fantasy and Ancient Egypt (1st paperback ed.). London; New York: Routledge. ISBN 0415301866.
- LCCN 00108868.
References
- ^ a b c d e f g h i j k l m n o p q "What Is Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 6 May 2016. Retrieved 16 May 2016.
- ^ a b "How Is Marfan Syndrome Diagnosed?". NHLBI, NIH. October 1, 2010. Archived from the original on 27 September 2022. Retrieved 16 May 2016.
- ^ PMID 37443678.
- ^ a b c d e f g h "Marfan Syndrome". National Organization for Rare Disorders. 2017. Archived from the original on 12 November 2019. Retrieved 5 November 2016.
- ^ a b c d "How Is Marfan Syndrome Treated?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
- from the original on 2017-08-29. Retrieved 2016-01-10.
- PMID 34680857.
- ^ "What Are the Signs and Symptoms of Marfan Syndrome?". NHLBI, NIH. October 1, 2010. Archived from the original on 11 June 2016. Retrieved 16 May 2016.
- ^ PMID 18506019.
estimated prevalence of 1 case per 3000 to 5000 individuals
- ^ NAID 10014879958.
- ^ a b "Antoine Bernard-Jean Marfan". Whonamedit?. Archived from the original on 8 March 2016. Retrieved 16 May 2016.
- ^ "Lifelong drug therapy the key to coping with Marfan syndrome". South China Morning Post. 2 December 2013. Archived from the original on 18 February 2022. Retrieved 18 February 2022.
- from the original on 18 February 2022. Retrieved 18 February 2022.
- ^ "Steinberg sign (Marfan disease)". Radiopaedia. Archived from the original on 2021-10-17. Retrieved 2021-10-17.
- PMID 16510833.
- ^ a b c d "OMIM Entry - # 154700 - MARFAN SYNDROME; MFS". omim.org. Archived from the original on 2019-09-08. Retrieved 2016-08-08.
- ^ a b c d e "About Marfan Syndrome". Genome.gov. Archived from the original on 2020-03-02. Retrieved 2020-03-02.
- from the original on 2022-10-09. Retrieved 2022-10-09.
- ^ "Aortic dissection - Symptoms and causes". Mayo Clinic. Archived from the original on 2022-10-09. Retrieved 2022-10-09.
- ISBN 978-0-7216-0509-8.
- PMID 26309824.
- ^ Cerveri I, Corsico A (2012). "Pulmonary involvement in patients with Marfan syndrome". European Respiratory Journal. 40: 3124.
- PMID 19554831.
- ^ PMID 18852161.
- from the original on 2021-11-20. Retrieved 2021-11-20.
- PMID 22095370.
- ^ "Marfan Syndrome". Mayo Clinic. Archived from the original on January 10, 2007. Retrieved January 12, 2007.
- ^ ISBN 978-0-7216-7335-6.
- PMID 15254584.
- PMID 16325700.
- PMID 17502658.
- PMID 1852198.
- PMID 10097121.
- ^ Entrez Gene (2007). "TGFBR2 transforming growth factor, beta receptor II" (Entrez gene entry). NCBI. Archived from the original on January 13, 2007. Retrieved January 11, 2007.
- ^ "Related Disorders: Loeys–Dietz". National Marfan Foundation. Archived from the original on September 25, 2006. Retrieved January 11, 2007.
- ^ "OMIM Entry - #616914 - MARFAN LIPODYSTROPHY SYNDROME; MFLS". omim.org. Archived from the original on 2018-11-30. Retrieved 2016-12-06.
- S2CID 26408208.
- PMID 24613577.
- PMID 27087445.
- PMID 8723076.
- ^ a b c d "Marfan Syndrome | Testing and Diagnosis | Boston Children's Hospital". www.childrenshospital.org. Archived from the original on 2020-03-02. Retrieved 2020-03-02.
- ^ a b "Marfan Syndrome". The Lecturio Medical Concept Library. Archived from the original on 23 January 2021. Retrieved 10 August 2021.
- PMID 7828300.
- ^ "Marfan Syndrome: Signs and Symptoms". www.ucsfhealth.org. Archived from the original on 2010-06-17. Retrieved 2009-08-28.
- ^ "What is Marfan Syndrome?". Marfan Trust. Archived from the original on 2015-06-10. Retrieved 2015-06-01.
- ^ "Marfan Syndrome: The Similarities to Copper Deficiency". www.ctds.info. Archived from the original on 2009-02-21. Retrieved 2009-08-29.
- ^ a b c MedlinePlus Encyclopedia: Marfan syndrome
- ^ "Marfan syndrome". Genetics Home Reference. U.S. National Institute of Health. Archived from the original on 2009-08-29. Retrieved 2009-08-28.
- PMID 25693015.
- S2CID 23492402.
- ^ Northwestern Memorial Center for Heart Valve Disease. Marfan syndrome Archived 2012-04-22 at the Wayback Machine
- ^ "Pneumothorax". The Lecturio Medical Concept Library. Archived from the original on 10 August 2021. Retrieved 10 August 2021.
- ^ "Retinal Detachment". The Lecturio Medical Concept Library. 21 October 2020. Archived from the original on 10 August 2021. Retrieved 10 August 2021.
- ^ "Scoliosis". The Lecturio Medical Concept Library. Archived from the original on 10 August 2021. Retrieved 10 August 2021.
- ^ a b "About Marfan Syndrome: Features". National Marfan Foundation. Archived from the original on 2009-08-20. Retrieved 2009-08-28.
- ^ "Living with Marfan Syndrome: Dental issues". National Marfan Foundation. Archived from the original on 2009-09-06. Retrieved 2009-08-28.
- ^ "2010 Revised Ghent Nosology". National Marfan Foundation. Archived from the original on 2011-01-14. Retrieved 2011-01-31.
- (PDF) from the original on 10 January 2016.
- ^ Julia A. McMillan, Ralph D. Feigin, Catherine DeAngelis, M. Douglas Jones. Oski's Pediatrics: Principles & Practice. Lippincott Williams & Wilkins, 2006
- ^ Rimoin DL, Connor JM, Pyeritz RE, et al. (2007). Emery and RImoin's Principles and Practice of Medical Genetics. 5th ed. Philadelphia, Pennsylvania: Churchill Livingstone Elsevier.
- from the original on 2021-05-30. Retrieved 2012-04-29.
- ^ "Questions and Answers about Marfan Syndrome". Niams.nih.gov. Archived from the original on 9 April 2014. Retrieved 23 June 2014.
- ^ Foundation TM (2013-09-02). "Common Blood Pressure Drug Reduces Aortic Enlargement in Marfan Syndrome". Marfan Foundation. Archived from the original on 2022-10-09. Retrieved 2022-10-09.
- PMID 15184297.
- ^ "Marfan Syndrome and How Sports Science is Saving Lives". Archived from the original on 2022-08-26. Retrieved 2022-08-26.
- ^ "Elective Aortic Root Surgery in Marfan Syndrome Appears Safe and Durable: Presented at STS" (Press release). Doctor's Guide. January 31, 2008. Archived from the original on November 20, 2008. Retrieved January 13, 2009.
See also:- Cameron DE, Vricella LA (2005). "Valve-sparing aortic root replacement in Marfan syndrome". Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual. 8 (1): 103–111. PMID 15818365.
- Gott VL, Cameron DE, Alejo DE, Greene PS, Shake JG, Caparrelli DJ, Dietz HC (February 2002). "Aortic root replacement in 271 Marfan patients: a 24-year experience". The Annals of Thoracic Surgery. 73 (2): 438–443. PMID 11845856.
- Bethea BT, Fitton TP, Alejo DE, Barreiro CJ, Cattaneo SM, Dietz HC, et al. (September 2004). "Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients". The Annals of Thoracic Surgery. 78 (3): 767–72, discussion 767–72. PMID 15336989.
- Cameron DE, Vricella LA (2005). "Valve-sparing aortic root replacement in Marfan syndrome". Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual. 8 (1): 103–111.
- ^ "Heart Surgery for Marfan Syndrome". Mayo Clinic. Archived from the original on December 18, 2006. Retrieved January 12, 2007.
- PMID 25337391.
- PMID 27032474.
- PMID 29221242.
- PMID 32761056.
- from the original on July 6, 2009. Retrieved June 25, 2007.
- PMID 9239687.
- PMID 18506019.
- PMID 18448780.
- ^ Johns Hopkins Comprehensive Marfan Center. Archived 2008-10-15 at the Wayback Machine Johns Hopkins Medicine. Retrieved on January 6, 2009.
- ^ Brown P (July 27, 1991). "Marfan syndrome linked to gene". Archived 2015-01-29 at the Wayback Machine New Scientist. Retrieved on August 11, 2008.
- ^ "Isaiah Austin: Doctors have cleared my return". December 2016. Archived from the original on 2023-01-23. Retrieved 2021-11-19.
- ^ Cooper KL (May 27, 2019). "Javier Botet: Meet the actor behind Hollywood's monsters". BBC News. Archived from the original on November 27, 2021. Retrieved November 27, 2021.
- ^ Trendell A (December 1, 2016). "Of Mice and Men's Austin Carlile's devastating message to fans: 'I won't get better'". NME. Archived from the original on November 27, 2021. Retrieved November 27, 2021.
- ^ "As His Recent Bizarre Behaviour Shows, Deerhunter's Bradford Cox Hasn't Mellowed – and That's Why We Need Him". NME. 9 December 2015. Archived from the original on 19 November 2021. Retrieved 19 November 2021.
- ^ "Remember Euell Gibbons, the man who would eat a pine tree on TV?". Metv.com. 2021-08-13. Archived from the original on 2022-08-16. Retrieved 2022-06-27.
- ^ "Euell Gibbons – Wild Food Adventures". Wildfoodadventures.com. 30 September 2015. Archived from the original on 2022-03-19. Retrieved 2022-06-27.
- ^ a b "Is it a genetic flaw that makes Phelps the greatest?". 16 August 2008. Archived from the original on 19 November 2021. Retrieved 19 November 2021.
- ^ "NBA prospect Jeanne diagnosed with Marfan syndrome". Sports Illustrated. Archived from the original on 2021-11-19. Retrieved 2021-11-19.
- PMID 8740691.
- ISBN 978-3-031-14001-3.
- ^ "Troye Sivan fires back at body-shaming Twitter post". PopBuzz. Archived from the original on 2022-01-13. Retrieved 2022-01-13.
- ^ "Health | Sir John Tavener". Archived from the original on 2021-11-19. Retrieved 2021-11-19.
- ^ "In Good Company". Marfan Trust. Archived from the original on 2023-08-20. Retrieved 2023-08-20.
- ^ MacDonald J (2012). "Psychiatry rocks – psychiatry in music". The British Journal of Psychiatry. 200 (6): 253. Archived from the original on 2023-12-13. Retrieved 2024-01-14.
- PMID 23516684.
- ^ Lorenz 2010.
- ^ Reeves 2019, pp. 154–155.
- ^ Montserrat 2003.
- ^ "Osama bin Laden Health Rumors: Fact or Fiction?". ABC News. Archived from the original on 2021-11-17. Retrieved 2021-11-19.
- ^ "New life for an old rumor: Was bin Laden 'Marfanoid'?". NBC News. 11 May 2011. Archived from the original on 19 November 2021. Retrieved 19 November 2021.
- PMC 1557967.
- ^ "Tick, Tick… Boom! On Netflix Continues the Legacy of Jonathan Larson". 11 November 2021. Archived from the original on 19 November 2021. Retrieved 19 November 2021.
- S2CID 26805372.
- ^ "Did Abraham Lincoln Have Marfan Syndrome? – Clinical Correlations". Archived from the original on 2021-11-19. Retrieved 2021-11-19.
- PMID 11694491.
- PMID 11694497.
- PMID 18357679.
- PMID 3101945.
- PMID 17066567.
- PMID 20159872.
- ^ "Egypt's King Tut born of incestuous marriage: Tests". Reuters. 17 February 2010. Archived from the original on 19 November 2021. Retrieved 19 November 2021.
- ^ "How Did King Tut Die?". 10 August 2023. Archived from the original on 19 November 2021. Retrieved 19 November 2021.