Famous Folk with Marfan Syndrome

Named after Antoine Marfan, a French pediatrician who first described the condition in 1896, Marfan syndrome is a progressive disorder, meaning symptoms can worsen over time. However, with proper management, many people with Marfan syndrome can have a similar quality of life as those without the condition.

From Baby to Man: A Life-Long Journey with Marfan Syndrome

Various congenital and acquired medical conditions can have life-long health implications. Such is the case for 26-year-old Kolten Rathburn, who was born with Marfan syndrome, a genetic disorder that affects the connective tissue that supports numerous body parts, including the bones, cartilage and blood vessels.

“Our pediatrician walked into our hospital room shortly after Kolten was born to tell us he had been diagnosed with Marfan syndrome,” said Kolten’s mother. “My husband and I looked at each other in disbelief. We had never heard of it.”

Immediately, Kolten’s pediatrician requested that he be seen by specialists, including a cardiologist, cranial specialist and an ophthalmologist.

Marfan syndrome can affect various body parts, including the heart, eyes, bones and lungs, and impacts about one in 5,000 people worldwide, regardless of gender, race or ethnicity.

“Marfan syndrome can be passed down from parents to children or can derive from a gene mutation,” said Kolten. “If one parent has Marfan syndrome, there is a 50% chance that their child will also have the condition.”

Common signs include being tall and thin, with longer than average arms, legs and fingers, and having a curved spine or chest wall deformity. Several other symptoms, such as heart and vision problems, can accompany Marfan syndrome.

Named after Antoine Marfan, a French pediatrician who first described the condition in 1896, Marfan syndrome is a progressive disorder, meaning symptoms can worsen over time. However, with proper management, many people with Marfan syndrome can have a similar quality of life as those without the condition.

Numerous celebrities have lived successfully with Marfan syndrome, such as:

• Abraham Lincoln (1809-1865), the nation’s 16th president
• Michael Phelps, recipient of 22 Olympic medals in swimming
• Isaiah Austin, a first-round prospect in the National Basketball Association
• Bradford Cox, the guitarist and lead singer of the indie rock band, Deerhunter
• Julius Caesar (100 BC-44 BC), a Roman politician, military general and historian best known for his role in the downfall of the Roman Republic and the establishment of the Roman Empire
• Sergei Rachmaninov (1873-1943), a Russian conductor, composer and pianist
• Arik Einstein (1939-2013), an influential Israeli singer, songwriter, composer and actor

People with Marfan syndrome can still participate in physical activities, but they may need to take certain precautions, such as avoiding contact sports or high-impact activities.

“I live life like everyone else, I just have to be more cautious than most people,” said Kolten. “For example, I’m on blood thinners and bleed easily, so I have to avoid things like scrapes, cuts, falls, bruising and anything that will cause bleeding.”

Kolten’s Life-Long Heart Care

Kolten has dealt with heart conditions resulting from Marfan syndrome since he was a baby. Because his aortic and mitral heart valves weren’t working correctly, he wasn’t receiving proper blood flow. At 18 months old, he had his first open-heart surgery to replace his mitral valve. He had surgery again at 8 years old to replace his aortic valve. He had one other mitral valve replacement surgery at 9 years old. Two months after this surgery, Roland Zamora, M.D., a pediatric cardiologist with Pediatrix® Cardiology of San Antonio, successfully patched a leak on the valve.

“Each surgery is as scary as the next as we try to remain calm,” said Kolten’s father. “The doctors and nurses always assured us Kolten was in good hands as we watched them wheel him into the operating room. We distinctly remember that there was a phone in the waiting room, which we always made sure to sit close to. At each surgery, we would receive calls from the nurses updating us on Kolten’s progress. These were extremely anxious times as we prayed for a successful surgery and knew recovery would have both good and bad days. After each surgery, it was such a relief to see the surgeon walk into the waiting room with a smile or give a thumbs up, letting us know all went well.”

A life-long patient at Pediatrix Cardiology of San Antonio, Kolten views the doctors, nurses and office staff who have managed his long-term care as family. As a young patient, he was under the care of the late Kenneth Bloom, M.D., a pediatric cardiologist and the practice’s founder.

“After one of my surgeries, Dr. Bloom’s wife, an anesthesiologist, came in to check on me,” Kolten recalled. “I was fascinated with her stethoscope, so she gave it to me. I still have it to this day.”

Kolten and his family had a special relationship with Dr. Bloom and all his staff. They hold Dr. Bloom and his practice in such high regard that they attended his funeral last year.

“It was such an honor to pay our respects to this wonderful health care provider who we are so grateful for,” said Kolten’s father. “Dr. Bloom was a wonderful, kind man with a very caring heart. He always made sure Kolten’s heart was strong and functioning at its best. We trusted Dr. Bloom to care for our son’s cardiology needs and have also trusted the practice’s other doctors who have cared for Kolten.”

Other cardiologists at Pediatrix Cardiology of San Antonio who have managed Kolten’s care include James Schroeder, M.D., Teresa Hospers, M.D., and David Bush, M.D.

Dr. Hospers took over Kolten’s care after Dr. Schroeder left the practice. She was instrumental in his care for many years and assisted in some of his surgeries.

“Dr. Hospers had a phenomenal bedside manner and provided exceptional care during and after surgery,” said Kolten. “Open-heart surgery is difficult and invasive, and Dr. Hospers made sure I was getting the care I needed. She was attentive during each and every checkup, EKG, ultrasound and all the other fun stuff that comes along with caring for the heart.”

Since Dr. Hosper’s stepped away from the practice, Kolten’s current cardiologist is Dr. Bush. In September 2019, Dr. Bush performed an electrical cardioversion to restore Kolten’s heart’s rhythm to a normal heartbeat.

Also instrumental to Kolten’s heart health is Estee Lopez, R.N., who has been his primary nurse at the practice for the past 20 years. In addition to the care she provides during routine office visits, Estee manages Kolten’s international normalized ratio (INR), which measures how long it takes for his blood to clot to ensure he’s on the correct dosage of blood thinner medication.

“I have only positive things to say about all the doctors, nurses and staff I’ve interacted with here,” said Kolten. “Once you’re in, you’re in, and they treat you like family and truly care about your well-being. They continue managing my care as an adult. I am very comfortable with this because they know my history and know how to handle my health care needs.”

Living with Marfan Syndrome

Kolten’s condition is more severe than some people with milder cases of Marfan syndrome, but he doesn’t let it get in his way of living life to the fullest. After earning a bachelor’s degree, he completed a master’s program in educational psychology at the University of Texas at San Antonio. He works just like anyone who isn’t faced with a medical condition.

“I have to do a little extra each day just to be OK,” he said. “Things like taking medication regularly, making sure my INRs are on track and watching my surroundings to avoid bleeding is just part of it.”

Always looking for a silver lining, Kolten believes Marfan syndrome has brought him opportunities he would not have otherwise had. When he was 12, the Make-A-Wish Foundation sent him and his entire family to Alaska, where they went on a cruise and toured parts of the state. The mayor of Juneau even gave him a key to the city and had lunch with the family. In addition, the Boy Scouts of America arranged for a fire truck to meet Kolten, an Eagle Scout, and his family at the ship and take them to a helicopter pad for a ride to explore the glaciers. He also met a few scouts and a scout master.

“I’m a big outdoorsman. I love to fish and hunt. I requested the trip to Alaska so I could explore the outdoors,” Kolten said. “I was an Eagle Scout then and wanted to meet with the troops in Alaska. They gave me a vest with a lot of cool patches. We also went on some excursions, like a fishing trip and dog sledding.

In addition, Kolten has hunted deer in Mexico, hunted quail and fished in various fishing tournaments at many lakes. He made a model of an MRI machine for the Child Life Department at Methodist Hospital as his Eagle Scout project.

Today, Kolten’s heart is stable. To ensure it remains this way, he has a semi-annual checkup with Pediatrix Cardiology of San Antonio to get an echocardiogram and EKG to ensure everything is going well. Every two years, he wears a Holter monitor that records his heart rhythm for 24 hours and gets a CT scan of his heart.

“People say to me, ‘I don’t know how you do it,’” Kolten said. “And I say, well, I have two choices; I can either go cry in a corner and feel sorry for myself, or I can get up every day and keep living life to the fullest.’”

Pediatrix® Medical Group provides fetal, pediatric and adult congenital heart care in several states. Please visit our cardiology website to learn more and find a location near you.

Famous Folk with Marfan Syndrome

Crafty dictator, inveterate womaniser, influential reformer. He changed the course of history and altered the passage of time. As Master of War and Father of the Leap Year, Julius Caesar left a legacy that is felt across millennia while his name has been etched into linguistic posterity through salads, casinos and surgical procedures. Much is known of the man who famously died on the Ides of March in 44 BC, yet much remains unknown. Did this divisive figure with his long slender limbs have Marfan syndrome. What do you think?

CHARLES de GAULLE

A tall awkward man, Charles de Gaulle left a lasting political legacy. Tenacious leader of the Free French Forces during World War Two, he cuts a singular figure in the black-and-white wartime footage. Whether inspecting his Navy or walking alongside Winston Churchill, he stands out, literally. It was a little-known fact that this heroic leader, once described as the “embodiment of France”, had Marfan syndrome. It remained a family secret until only recently! Vive La France!

JEFFERSON HOPE

In his first literary outing, Sherlock Holmes deployed his theory of deduction to unravel a mystery that had crossed continents. A Study in Scarlet introduced Holmes to the world, pitting his forensic reasoning against the revenge-fuelled murderous antics of sympathetic baddie Jefferson Hope.
Sir Arthur Conan Doyle was a physician, and famously clinical in his descriptions of his characters, creating in Jefferson Hope a physically vivid villain of tall stature, ruddy complexion with susceptibility to epistaxis. Hope also suffered a thoracic aortic aneurysm. Did Jefferson Hope have Marfan Syndrome, we wonder?

ROBERT JOHNSON

His influence is felt down the decades and heard in the distinctive technique of guitarist Eric Clapton. Robert Johnson was a musician and songwriter, now dubbed the master of blues. He lived a restless, itinerant life playing variously on street corners, in juke joints and at dance halls until his sudden death in 1938 at 27, possibly from undiagnosed MFS. Enjoying little renown when alive, he became in death a hallowed figure after the reissue of his recordings in 1961 took his work to a wider audience and ignited his reputation as one of the greatest guitarists who ever lived. Yet documented facts on his life remain scarce and his death remains steeped in rumour. However, in 2006 a physician tentatively ‘diagnosed’ Marfan syndrome, after spotting from a photograph Johnson’s preternaturally long fingers which conferred such navigational prowess on his guitar.

JONATHAN LARSON

The title of the oscar-nominated Netflix musical Tick Tick …BOOM denotes the mounting impatience felt by its creator, Jonathan Larson, who is in a race against time to succeed on Broadway. On the brink of turning 30 he is juggling love, friendship and a job waiting tables in New York, all while in hot pursuit of artistic success before it’s too late and the world blows up in his face. Jonathan Larson eventually achieved global acclaim but posthumously for he died of a misdiagnosed aortic dissection and undiagnosed Marfan syndrome in 1996, just before his smash-hit musical Rent opened.

Prior to this he had sought help for chest pain at two New York City accident and emergency rooms. Doctors at the first attributed his pains to food poisoning. A few days later, at a second hospital, he was told he had the flu. No one had diagnosed that he had a heart defect caused by Marfan syndrome. On January 25, 1996, he died after an artery carrying blood away from his heart enlarged and ruptured. He was 35.

On 29 April 1996, the rock musical Rent opened on Broadway, winning immediate critical acclaim, six Tony Awards and the Pulitzer Prize for Drama. Sadly Jonathan Larson was not present on opening night to soak up the applause or revel in the praise. Nor could he take to the stage months later to accept his much-deserved Tony and Pulitzer awards.

Tick Tick … BOOM is his autobiographical tale now streaming on Netflix as a magical musical with Andrew Garfield.

ABRAHAM LINCOLN

Uniquely stoical and supremely shrewd, Abraham Lincoln was a president of firsts. Inaugurated as the first Republican president of the United States, he was the first to issue a military draft, and the first to grow a beard. He had an unquenchable zeal for justice which some say was a remedy for his melancholia. Clinically depressed, his public work was possibly fuelled by private sorrow. Was it also fuelled by a private knowledge of Marfan syndrome? Did President Lincoln have Marfan syndrome? His physique would suggest so. But no. We think he instead had the overlapping condition of Ehlers Danlos!

PETER MAYHEW

The defining embodiment of Chewbacca, Peter Mayhew had both gigantism and Marfan syndrome. He established overnight success as the hairy hero in 1977’s Star Wars but had been waiting to happen for some time. His path to fame started ‘Feet First’ when his were recorded for posterity by a local London journalist, catching the attention of a film producer and leading circuitously to his defining role of Chewbacca. And, as the first screenings of Star Wars played to enraptured audiences, Mayhew was still mopping hospital floors in Croydon – he’d been using his height supremacy as a livelihood, working in hospitals as an orderly changing light bulbs. However, from 1977 he lived his life hiding behind yak hair and rescuing Han Solo in acts of derring-do

NICCOLO PAGANINI

Dubbed the witch’s brat for his preternatural virtuosity on the violin, Niccolo Paganini was the original showman. His long, sinuous fingers conferred a navigational facility on the violin fingerboard that left audiences breathless and revolutionised the instrument’s technical potential. Clad in black he cut a striking figure with his pale face and razor-thin frame as he played three octaves across four strings in one handspan, prompting the rumour that he was in league with the devil. It is more likely that the freedom of movement across the strings enjoyed by his hyper-extensible digits was a result of Marfan syndrome, which would not be ‘described’ until 56 years after his death.

SERGEI RACHMANINOFF

A swooning swirl of lush melodies and romantic chords, Sergei Rachmaninoff’s music held the world spellbound. Forever associated with Brief Encounter, the composer’s impassioned piano concerto no. 2 famously swept the film’s heart-rending story to its tragic conclusion. Its ominous and stirring chords require of the pianist a wide fingerspan, in keeping with the concerto’s composer who was possessed of huge tapering hands that could stretch so wide they “covered the keyboard like octopus tentacles.” Did Sergei Rachmaninov as is rumoured, have Marfan syndrome? Were his huge hands, so typical of arachnodactyly, a manifestation of the condition?

Whilst Rachmaninoff’s appearance superficially conformed to the skeletal features of Marfan syndrome, and he had myopia, it is thought by the BMJ that he did not have the condition. He displayed none of the hard “clinical characteristics such as scoliosis, subluxated lenses, pectus excavatum or cardiac complications. Nor did he have the clinical effects of a Marfan-related syndrome such as Ehlers-Danos”.

JOEY RAMONE

Shielded from the world by his mop of messy black hair and dark glasses, Joey Ramone stood tall as the heart and centre of the Ramones, the group that pioneered punk. The four band members – misfits all – were identically attired in their motorcycle jackets and distressed jeans as they performed their tough but catchy style of music. Singer Joey said “We were there for all the outcasts. We were outsiders, loners. I am an individual. I want to be who I am.” Joey’s melodic delivery was unique as he was himself as a person, perhaps made more so by his Marfan syndrome.

VINCENT SCHIAVELLI

Restlessly haunting the subways of Manhattan, Vincent Schiavelli’s unhappy poltergeist was a minor but memorable character in the 1990 romantic film, Ghost. His drooping, doleful eyes characterised a role that evoked equal parts sympathy and fear, and saw him dubbed the sad-faced actor. From a torture-inclined baddie in “Tomorrow Never Dies” to a perpetually smoking inmate in “One Flew Over the Cuckoo’s Nest”, his distinctive looks left indelible impressions in many films and were the result of MARFAN SYNDROME. He served as the Honorary Co-Chairman of the Marfan Foundation in the US.

EDITH SITWELL

Her lonely loveless childhood was spent imprisoned in an iron brace to straighten her spine while her mind and imagination were allowed to roam free. Edith Sitwell was a poet and a modernist genius known as much for her strange opinions and bohemian clothing as for her writing. She shocked her aristocratic parents by being born female, and with a curved spine to boot – a result of Marfan syndrome. Her response to her distant unloving upbringing was to take refuge in eccentricity and she reigns forever as a true British one-off. Are there any poets out there in our Marfan community?

TUTANKHAMUN

A glittering treasure trove of 5,000 artefacts, Tutankhamun’s tomb had been sealed for over 3,000 years before it was unlocked in 1922. The wealth of precious objects has since travelled the world while CT scans and DNA were able to discern that the tall fragile boy king most probably died of a broken leg, complicated by malaria. What can never be established is whether King Tut, as he was known, had Marfan syndrome. At only 18 years old he walked with a cane and 130 walking sticks were discovered in his tomb, to ease his passage in the afterlife. Rumours persist that he had MFS or a similar connective tissue disorder hence he’s a member of our Do They or Don’t They Club.

During a visit to the British Museum for the exhibition Peru, a Journey in Time; we happened across this ceremonial vessel, inspired perhaps by Marfan syndrome.

Before the colonisation of Peru there lived amazing cultures who feasted on hallucinogenic cacti, created enormous earth drawings, built sophisticated networks of roads and made lots of pottery, one of the oldest preserved pieces being this pictured object which transmutes the likeness of a contortionist into a clay vessel. It is from the Cupisnique culture “who lived on what is now Peru’s Pacific northern coast. Thought to date from 1200BC, its shape is a contorted human body, possibly representing someone born with a disease that causes loose limbs and unusual flexibility – a revered ability.”

Does our contortionist have Marfan syndrome, or a similar connective tissue disorder? Either way, it’s wonderful that flexible shape-shifting limbs have been celebrated for ceremonial purposes!