Rosanne Rouf, M.D., is director of the outpatient Heart Failure Program at Johns Hopkins Bayview Medical Center and an assistant professor in the Johns Hopkins University School of Medicine. Theater is a job. Even before the causative mutation was identified, clinical care for patients with Marfan syndrome had advanced. He died at the age of 74 at Ichilov Hospital in Tel Aviv, a few hours after he suffered a fatal hemorrhage. I don't have the time or the energy. His research contributions have made diagnosis of the condition patient-specific and accurate. Notice of Privacy Practices(Patients & Health Plan Members). The American Schonfeld was the first to advance the theory that Niccolo Paganini was affected by the Marfan syndrome. They can develop into Cushing's disease, or in the . Specialists did spot the tumor squeezing Pritchard's pituitary gland and sent him to surgery. The findings , described August 4 in the Journal of Clinical Investigation Insight, revealed a novel cellular pathway in heart tissue that leads to heart . The disease is usually passed down through generations, and children who have one parent with the disease have a 50% chance of getting it, according to the NIH. Gordon AM. Most people with Marfan syndrome are tall, lanky and loose-jointed, according to the NIH. Genetic testing is often required for an accurate diagnosis. As Gwynne was in the midst of building his career, he married Jean "Foxy" Reynard in 1952 and they had five children together; Gaynor, born 1952; Kieron, born 1954; Evan, born 1956; Madyn, born 1965; and Dylan, born 1962, but who tragically drowned in the family pool less than a year later. "There are patients that are missed for years and years because they didn't present with very clear symptoms and nobody thought about the possibility of a pituitary tumor," said Dr. Maria Fleseriu, an endocrinologist at Oregon Health & Science University. About one out of every 5,000 Americans has Marfan syndrome. All Rights Reserved. It is critical to make an early diagnosis of Marfan aneurysm because there is a high frequency of dissection and rupture once the aortic diameter reaches 6 cm. Originally named Bradley, she was assigned the male gender at birth and went to an all-boys school. Admin Login. In 2005, Austin formed Call It Even with his high school friends. "If I had let it go too much longer, it could have pressed on the optic nerve and could have affected my eyesight," Pritchard said. 1991:352(6333):279-281. In 1896, in the Bulletin of the Medical Society of Paris, Antoine Marfan described a five-year-old girl with arachnodactyly. 2005:366(9501):1965-1976. http://www.ncbi.nlm.nih.gov/pubmed/16325700. He is currently starring in Anthony ("Sleuth") Shaffer's new comedy/mystery "Whodunnit?" 7. In 1896, in the Bulletin of the Medical Society of Paris, Antoine Marfan described a five-year-old girl with arachnodactyly. The image and b-roll footage/interview that accompanies this news release are available for download. With acromegaly, people often don't notice symptoms until it is brought to their attention by comparing current and old photographs. The discovery of Lincolns likely genetic disorder is particularly significant to those with marfanoid syndromes. The discovery of a signaling pathway malfunction indicated that there was more to Marfan syndrome than structurally weak connective tissue. People with Marfan sydrome may have eye . Eventually, Moore was diagnosed with Klinefelter syndrome. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. 2 When this happens, the beginning of the body's largest blood vessel, the aorta, is ballooned out in size. The same could have happened with Pritchard's health. All the milk and vitamins have finally paid off.". The youngest was named Dylan, who was born in 1962. But bin Laden didnt have deep-set, downward-slanting eyes of those with Marfan syndrome. Contact us or find a patient care location. He was a painter and sculptor before his acting career began at age 23. Examples of conditions that appear similar but have specific management are Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome. I have to save everything for the show. In most cases, Marfan syndrome is inherited. "It was a lot like a line from Noel Coward, I wish I could quote him perfectly, 'You just learn the lines as best you can, say them briskly and go home.' Aortic root surgery in Marfan syndrome: current practice and evolving techniques. Preventive aortic repair with either a composite graft or a valve-sparing operation is done when the aorta reaches a diameter between 40 and 50 mm. While he was first embarking on his acting career, Fred had married socialite Jean Reynard in 1952 and together they had five children. In addition, he worked at the national conference helping teens with MS, whom he called his genetic brothers and sisters.. A committee of geneticists, forensic scientists, and lawyers convened in 1991 to decide whether or not to test Lincolns DNA for a mutation in fibrillin 1. In experiments with mice that have a rodent form of Marfan syndrome, Johns Hopkins researchers report that even modestly increasing stress on the animals hearts at levels well-tolerated in normal mice can initiate heart failure. Lancet. But bin . Every child receives twoFBN1genes, one from each parent. Living With Marfan Syndrome. New masking guidelines are in effect starting April 24. The findings, described August 4 in the Journal of Clinical Investigation Insight, revealed a novel cellular pathway in heart tissue that leads to heart failure and may serve as a model for a new standard of treatment for children with this aggressive form of Marfan syndrome. This research shows that, rather than taking a one-size-fits-all approach, we need to be much more proactive in figuring out which children may have earlier than usual signs of heart failure and operate before there is any decline in heart function to spare their hearts further stress.. [Cardiovascular surgery in Marfan syndrome. Marfan syndrome (named after Dr Antoine Marfan, the French doctor who first described it in 1896) is a genetic disorder. Herman Munster, for God's sake, he's archetypal. Fatal Car Crashes Happen More Often Than Usual on 4/20, Study Finds, The 25 Defining Works of the Black Renaissance. 10. Gott VL, Pyeritz RE, Cameron DE, Greene PS, McKusick VA. Ann Thorac Surg. The most serious problems occur in the heart and aorta. A debate about the president and Marfan syndrome in the form of letters to the editor of JAMA ensued in 1964. When I was only offered stuff like 'Lost in Space,' I hustled right back to the East Coast. . He seems to have long fingers and long arms. And he had a bit shaved off his chin at one point, so (believe it or not) his 2004 face isn't as long as his 1972 face. Write to Jamie Ducharme at jamie.ducharme@time.com. Mostly cloudy with some occasional showers moving through. Moreover, Isaiah had been considered a first-round prospect in the 2014 NBA draft. The French pediatrician Antoine-Bernard Marfan first described Marfan syndrome at the turn of the 20th century, 30 years after Lincoln's assassination, in a young girl with long digits and several other skeletal abnormalities. He had no skeletal deformities and no evidence of heart problems that might have resulted in an aortic tear or rupture. Sotos uses information about the appearance of Lincolns mother, Nancy Hanks Lincoln, to propose that Nancy and Abraham both suffered from the same marfanoid disorder, and that this disorder may have been MEN2B. Two hundred and thirty-one Marfan patients underwent aortic root replacement at The Johns Hopkins Hospital between September 1976 and December 1997. In experiments with mice that have a rodent form of Marfan syndrome, Johns Hopkins researchers report that even modestly increasing stress on the animals hearts at levels well-tolerated in normal mice can initiate heart failure. Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. A lock ( A locked padlock) or https:// means youve safely connected to the .gov website. It was rumored that Michael Phelps, however, he tested negative for it. Testosterone therapy can help sufferers with many of the symptoms of KS, but the treatment should start at puberty. I've had six cousins die before twenty from complications of Marfan. JAMA. 8600 Rockville Pike An official website of the United States government. The .gov means its official. Sotos JG. Fibrillin-1 also affects levels of another protein that helps control how you grow. The signs and symptoms of KSin young boys and teenagers may include: Note since KS can be hard to notice, many parents dont know their child has the syndrome until he shows delays in puberty. Height wasnt Lincolns only distinguishing physical characteristic. He is Marfanoid, Dr. Richard Devereux was quoted as telling Salon.com nearly a decade ago. READ MORE: Celebrities With Sickle Cell Anemia. This site needs JavaScript to work properly. Patients are seen at a joint cardiology and medical genetics appointment, where the medical history, family history, clinical examination and imaging results are reviewed. Abraham Lincolna medical appraisal. 5. There is no cure for Marfan syndrome, though if its individual symptoms are treated and managed well, those who have it can expect to live a normal lifespan, according to the Marfan Foundation. Get directions, important phone numbers, locations and more. In 2009, the University of North Carolinas Dr. John Sotos suggested that Lincoln may, in fact, have suffered from a related but distinct genetic disorder that eventually causes cancer. 4. Somebody tried to pin that on Abe Lincoln a couple of years ago. Standing 64, Lincoln is, to this day, the tallest president ever, edging out Lyndon Johnson by a full inch. Dietzs progress with Marfan syndrome led him to investigate certain conditions that dont produce aortic aneurysms. One patient with Marfan said, The fact that Lincoln may have had Marfan syndrome shows those of us that we too can contribute something of value to societyIts time that all people, especially medical ethicists, realize that having the Marfan syndrome is not shameful, its just darned inconvenient[10]. Use of this site constitutes acceptance of our, Digital ", Gwynne's height has been both a help and a hindrance, he says. Vincent was an actor that had made over 120 television and film appearances. Calif Med. 2. Some encode for proteins in the extracellular matrix, others for proteins involved in cellular signaling and others for aortic smooth muscle contractile proteins. But since connective tissue is found all over the body, the condition can lead to many different symptoms, and not every sufferer will develop every one. The testing of Lincolns DNA was suggested and disputed in the 1990s, after scientists identified the gene for Marfan syndrome. Diagnosing Marfan Syndrome. 1997 Jun 7;127(23):992-1006. This research was funded by the National Center for Research Resources (S10RR024550), the Office of the Director, Centers for Disease Control and Prevention (S10OD016374), the Sarnoff Cardiovascular Research Foundation, the William S. Smilow Foundation for Marfan Syndrome Research and the Howard Hughes Medical Institute. The Marfan mice showed profound heart failure within one week, while the wild-type mice did not fail at all by the end of five weeks. The actuarial survival for the 231 patients undergoing aortic root replacement was 88% at five years, 81% at ten years, and 75% at 20 years. Nancy died at age 34, and her death was described as a wasting death, which may be an indication of a cancer syndrome. The new studies also suggest that drugs such as losartan and the experimental anti-cancer medicine may one day be shown to reverse heart failure in children with the most aggressive form of Marfan. Effective treatment for previously fatal cardiovascular disease has resulted in longer lives for patients with Marfan syndrome. However, advances in treatment make it possible for people with the disorder to have long, productive lives. NYU Langone Medical Center, 1. Marfan syndrome involves multiple organ systems leading to characteristic features involving the cardiovascular, ocular, and skeletal systems . When you have Marfan syndrome, there is a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This includes men and women of all ethnic groups. In a recent article, Dr. John Sotos, a cardiologist with an interest in the medical history of Americas presidents, proposes a new theory on the presidents genetics in the context of newly discovered marfanoid syndromes with mutations in the transforming growth factor-beta receptor. Baumgartner WA, Cameron DE, Redmond JM, Greene PS, Gott VL. Opinions posted on Free Republic are those of the individual The French pediatrician Antoine-Bernard Marfan first described Marfan syndrome at the turn of the 20th century, 30 years after Lincolns assassination, in a young girl with long digits and several other skeletal abnormalities. Without DNA testing, we may never know whether Lincoln carried the mutation in his genes. They can develop into Cushing's disease, or in the case of Pritchard, abnormal growth called acromegaly. Amid all the news about Osama bin Ladens private life -- the home videos, the dyed beard, the reports of a medicine chest stocked with Avena syrup either to soothe a sour stomach or rev a flagging libido comes a renewed rumor about the terror leaders health. official website and that any information you provide is encrypted Marfan syndrome is a genetic disorder that affects connective tissue throughout the body, elongating limbs, fingers and toes, for example. He's gone on to do "about a dozen" Broadway shows, including the "archetypal" Big Daddy, Col. Kincaid in Preston Jones' "Texas Trilogy," the manager of Macy's in "Here's Love," a musical version of "Miracle on 34th St." And he's been a veritable staple at the Kennedy Center. While Lincoln did have some physical characteristics associated with Marfan syndrome, some experts have pointed out that he lacked certain hallmark symptoms, including a heart murmur and vision problems, Clinical Correlations notes. However, he did not clearly exhibit any of the other clinical features typical of the syndrome. Arms and legs may be unusually long in proportion to the torso. I met him on the way up the stairs to his office, and he said, 'Oh, no, please don't waste my time. About 1 in 5,000 people have Marfan syndrome, according to The Marfan Foundation. January 12, 1983 ACTOR Fred Gwynne is a biiig man -- 6 feet, 5 3/4 inches, to be exact--and still growing professionally. If you have MS, you have a 50:50 chance of passing on the condition to each of your children. A number of dedicated clinics throughout the United States now help with this care. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. Aortic enlargement, heart valve leaks and heart failure marked by heart enlargement and weakened pumping action are all potentially life-threatening. The disease is. Montgomery JW. There is no way to prevent Marfan syndrome. (as Francis Muldoon) and The Munsters (as Herman Munster ), as well as his later film roles in The Cotton Club, Pet Sematary, and My Cousin Vinny . "Occasionally I B.S. Ever the professional. and as the gentle giant Herman Munster in the sitcom "The Munsters." More importantly, we can confidently surmise that Lincoln did have a genetic disorder, passed to him in an autosomal dominant fashion from his mother. Herman Munster Syndromehe should get a nice set of electrodes "fugly" Haven't heard that in a long time!!! A statue of Abraham Lincoln in Chicago's Lincoln Park. HHS Vulnerability Disclosure, Help 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. Lincoln-Marfan debate. Explore our state-of-the-art patient care facilities in the Sheikh Zayed Tower. Abraham Lincolns marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B? The disorder manifests in multiple body systems, most predominantly the skeletal, ocular, and cardiovascular systems. The Bentall operation now carries a 30-day mortality rate of less than 5% at major cardiac surgical centers. True, bin Laden had some physical characteristics linked to Marfan syndrome, which affects about 1 in 5,000 people. He was a vocalist for Shleeshiyat Gesher Hayarkon (Yarkon Bridge Trio), Batzal Yarok (Green Onion), and Hahalonot Hagvohim (The High Windows). It will also be breezy and cool. He was born on September 27, 1987, in Ohio, and is best known as the former lead vocalist of the bands Attack Attack! and Of Mice & Men.. [1] The patriarch of the Munster household, Herman is one of Frankenstein's monsters, created in a lab in Germany in the nineteenth century. Every child receives two, Obesity, Nutrition, and Physical Activity. Treating and living with Marfan syndrome, and its complications, is a lifelong process. Clipboard, Search History, and several other advanced features are temporarily unavailable. "I'm not gonna amuse myself keeping the door open in the art world till I'm ready to stop acting. The care of an individual patient may involve experts in adult and pediatric cardiology, clinical and laboratory genetics, cardiac and vascular imaging, cardiovascular surgery, and cardiovascular pathology. Back then, after the 9/11 terror attacks, medical experts weighed in on bin Ladens tall, frame, lanky limbs and long face, all classic physical symptoms of Marfan syndrome. Note because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood. JAMA. Marfan syndrome is a genetic disorder that affects the bodys connective tissue, which acts as a glue between cells, according to the National Institutes of Health (NIH). . Marfan syndrome is a congenital condition, meaning a person has it from birth. What is Marfan Syndrome? Did you check out the size of foot on that daughter of his the other day? One critically important potential problem is aortic root aneurysm. Feet often are flat. "That was quite an experience, the operation itself, because they go up through the nose, grab hold of that tumor and collapse it," explained Pritchard. No, he's suffering from the terminal stupids. An Ohio physician first suggested in 1962 that Lincoln may have had Marfan syndrome, noting that the former presidents mother was also exceptionally tall and lanky, according to Clinical Correlations. Before the availability of the Bentall composite graft procedure in 1968, the operative results were very poor. Some of the most famous Marfan syndrome symptoms include loose joints, vision problems, cardiovascular issues, and an unusually tall and slender structure. It took almost 50 years to fully elucidate this syndrome including aneurysm of the ascending aorta. The spine may be curved (scoliosis), and the breastbone may protrude or look caved in. The syndrome can affect different stages of language, physical, and social development. Investigations using the mouse model demonstrated that when the AT1 receptor was blocked with losartan, young mice with Marfan syndrome did not develop the expected phenotypic changes, including aortic aneurysm. The Johns Hopkins University, The Johns Hopkins Hospital, and Johns Hopkins Health System. In experiments with mice that have a rodent form of Marfan syndrome, Johns Hopkins researchers report that even modestly increasing stress on the animals' hearts at levels well-tolerated in normal mice can initiate heart failure. Despite the less-than-glowing reviews "Whodunnit?" He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association. This website is not intended for users located within the European Economic Area. You're just too tall for the part. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. You have permission to edit this article. You would be playing next to her.'. Marfan syndrome Symptoms & causes Diagnosis & treatment Doctors & departments Care at Mayo Clinic Print Diagnosis Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. The compelling reason the committee found to test the DNA was for the betterment of the community of disabled individuals, especially those with Marfan syndrome, who would be encouraged to learn that one of the most significant figures in American history lived with a genetic disorder. Earlier preventive surgery is recommended when there is a family history of aortic dissection or when there has been rapid growth of the aorta. Live Chat with us, Monday through Friday, 8:30 a.m. to 5:00 p.m. EST. 6. It can be difficult to diagnose since many sufferers have only a few typical symptoms and no specific biochemical or histologic changes. He is the guitarist and lead singer of the Indie rock band, Deerhunter. Marfan syndrome can be mild or severe. It was Marfan syndrome, a rare connective tissue disease that can cause disfigurement and sudden death. Secure .gov websites use HTTPS Arms and legs may be unusually long in proportion to the torso. TheFBN1gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue to support your bones, muscles, and organs. This May Be Why. The content of this site is intended for health care professionals. Disclaimer: In Marfan syndrome, the connective tissue in your body becomes weakened. exemption for fair use of copyrighted works. It affects males and females of all races and ethnicities. Troye suffers from a mild form of Marfan syndrome. Disclaimer. 1964:189(2):164. "Well he had good reason; he not only had Acromegaly, he also had Marfan Syndrome - which causes excess connective tissue between the fingers & toes & also abnormally long fingers. Marfans syndrome. Affected individuals often are tall, slender and loose-jointed. For these reasons, many scientists have called into question the diagnosis of Marfan in the president [9]. When one parent experiences a change on FBN1, one of the kids is sure to have it - autosomal dominant transmission. "), Gwynne remains ebullient and loyal about the new show, which he calls "absurd, scary fun.". Her research focus is in the area of targeting nonmyocyte signaling pathways to develop novel therapeutics addressing a clinical challenge for heart failure in patients who continue to have cardiac dysfunction despite current medical therapy. By making mouse models of scleroderma, they want to see if losartan or a similar drug might also treat that condition. "Older data shows that the mortality can be increased up to four times for Cushing's that's not treated, and for acromegaly, it's usually doubled," Fleseriu said. 1999 Jun;67(6):1859-60; discussion 1868-70. doi: 10.1016/s0003-4975(99)00412-9. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 2000. http://books.google.com/books/about/Abraham_Lincoln_s_DNA_and_Other_Adventur.html?id=1mvLjIJUV_IC. "He was quite tall and he had a long, narrow face," Dietz said. There seems to have been no sign of the dominant genetic disorder in his children, Dietz said. Marfan syndrome can cause problems affecting the eyes, heart, and lungs. In 1980, Gwynne divorced his first wife and was married Deb Gwynne eight years later. Abraham Lincoln had Marfan's. 8. Johns Hopkins researchers identify the cell signals responsible for rapid heart failure in children with Marfan syndrome and reverse the disease in mouse models. But I don't think his ribcage is narrow enough. To address some of that complexity, Rouf, Dietz and their colleagues induced stress on the hearts of both wild-type and Marfan mice using a technique called transverse aortic constriction (TAC), which slightly tightens the aorta of experimental mice, mimicking raised blood pressure and inducing a precisely measureable amount of stress to the heart. True, bin Laden had some physical characteristics linked to Marfan syndrome, which affects about 1 in 5,000 people. Lincoln's appearance and medical history have some convinced that he had a condition called Marfan syndrome. Some famous people who had the pituitary disorder include the wrestler Andre Rene Roussimoff (Andre the Giant), Ted Cassidy (Lurch) from "The Addams Family," and Fred Gwynne (Herman Munster) from the "Munsters.". He has consistently appeared on TV since then, doing guest shots and several PBS productions, including "The Police. When a specific genetic diagnosis is made, the clinical management is guided by that diagnosis. That's why his compositions are . However, the condition can affect many parts of the body. A reporter once described the 16th president as a tall, lank, lean man considerably over six feet in height with stooping shoulders, long pendulous arms terminating in hands of extraordinary dimensions, which, however, were far exceeded in proportion by his feet [1]. about quitting the business and going back to what I started with," muses Gwynne, who is fond of inventing aphorisms in mid-conversation, such as "I think acting is trying to make believe you like adversity" and "The older you get, the more clearly you remember what it was you wanted in the beginning. The difference between Marfan mice and healthy mice was striking, says Rouf. The past 30 years have seen much progress in the diagnosis and treatment of Marfan syndrome and related disorders. Using echocardiograms, the researchers observed that the TAC Marfan mouse hearts had dramatically increased in size, weighing an average of 200 milligrams, compared to control mice, weighing an average of 75 milligrams a sign of profound heart failure in both mice and humans. In 1991, his prediction was fulfilled when mutations in a component of elastic microfibrils, fibrillin 1 (FBN1), were found to be the cause of Marfan syndrome. Rushmore, almost certainly had a genetic mutation, and it did not hinder his many achievements. Physical activity modifications and either a -blocker or losartan help to protect the aorta. Muscular hypotonia, which is distinguished from weakness, is a prominent feature of MEN2B. All rights reserved. Mayo's Marfan and Thoracic Aorta Clinic was selected by The Marfan Foundation to host The Marfan Foundation 32nd Annual Family Conference. Cases without a definite diagnosis often require multidisciplinary discussion. 4. To test the hypothesis that fibrilin-1 could dampen the activity of transforming growth factor-beta (TGF? McThing." Children who get anFBN1gene with a mutation from one parent will have Marfan syndrome even if the other parent passes on a normal FBN1 gene. It took almost 50 years to fully elucidate this syndrome including aneurysm of the ascending aorta. Like, 'Big Daddy' in 'Cat On a Hot Tin Roof' is archetypal, 'Our Town' . Andy Jackson, an . Gordon AM. "He didn't want to do it, but the money was too good," Foxy Gwynne, Fred's former wife told A&E's "Biography" in 1999. Reduced upper segment or lower segment (or both) and increased arm span or height (or both) without severe scoliosis 1, Scoliosis > 20 or thoracolumbar kyphosis 1, Add values. The identification of mutations in the fibrillin gene has enabled the diagnosis of Marfan disease in some patients before they become symptomatic; prenatal diagnosis has been achieved in some patients. sharing sensitive information, make sure youre on a federal Atenolol vs. Losartan in Patients With Marfan Syndrome, Mayo Clinic College of Medicine and Science, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Graduate Medical Education, Mayo Clinic School of Continuous Professional Development, Connective tissue disorder ectopia lentis, Financial Assistance Documents Minnesota, Cardiovascular Diseases and Cardiac Surgery, The presence of an aortic root aneurysm (with a z score 2 when standardized to age and body size) or aortic dissection and ectopia lentis, The presence of an aortic root aneurysm (with a z score 2 when standardized to age and body size) or aortic dissection and the identification of the FBN1 gene mutation, The presence of an aortic root aneurysm (with a z score 2 when standardized to age and body size) or aortic dissection and the presence of systemic features with a score of 7 or more points on the systemic feature scoring table, The presence of ecopia lentis and identification of the FBN1 gene mutation previously associated with aortic disease, Systemic features with a score of 7 or more points, Aortic root dilation (with a z score 2 for adults ages 20 or older or a z score 3 for patients younger than age 20), MASS phenotype (myopia, mitral valve prolapse, mild aortic enlargement, nonspecific skin and skeletal features), Congenital contractural arachnodactyly (Beals syndrome), Congenital bicuspid aortic valve disease with associated aortopathy.
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