| 1841 | Edgar Allan Poe’s The Murders in the Rue Morgue, considered the first detective story, is published. | |
| 1852 | Harriet Beecher Stowe‘s Uncle Tom’s Cabin is published. | |
| Born on March 20 | ||
| 43BC | Ovid, Roman poet. | |
| 1828 | Henrik Ibsen, Norwegian dramatist (Peer Gynt, Hedda Gabler). | |
| 1957 | Shelton ‘Spike’ Lee, film director (Do the Right Thing, Malcolm X).
Volume 108, Issue 1, 1 July 2011, Pages 148–149
Historical study
Edgar Allan Poe: A Case Description of the Marfan Syndrome in an Obscure Short Story
In
the obscure short story “A Tale of the Ragged Mountains,” Edgar Allen
Poe meticulously described a character with features remarkably
consistent with the Marfan syndrome. This description appeared in
fiction >50 years before the celebrated index description in the
published medical research by Professor Antoine Marfan in Paris in 1896.
In 1896, the French professor of pediatrics Antoine Marfan1
described the case of a 6-year-old female child named Gabrielle. The
phenotypic description of this young patient is consistent with a
mutation of the protein fibrillin-1 or fibrillin-2. Mutations of
fibrillin-1 are now known as the Marfan syndrome. Accurate descriptions
of disease syndromes have also been historically well chronicled in
great works of literature and fiction. because writers are astute and
detailed observers of individual behavior and appearance.2
A celebrated example of this is obesity hypoventilation syndrome, which
is also called “Pickwickian syndrome” after a famous character in
Charles Dickens's novel The Pickwick Papers.
Seventy
years before Professor Marfan's case description in Paris, Edgar Allan
Poe arrived at the University of Virginia in February 1826, a few months
after the first students matriculated at Thomas Jefferson's Academical
Village. He would write 1 short work on the basis of his time in
Charlottesville. Possessed with unusual stamina, Poe's wanderings often
led him several miles south and west of Charlottesville, into the Ragged
Mountains. This would provide the setting for the phantasmagoric and
obscure “A Tale of the Ragged Mountains,” which was first published in
1844. Poe describes the curious case of Augustus Bedloe and the complex
relation he has with his physician, Dr. Templeton. Poe forges an
elaborate description of Bedloe, a young gentleman “remarkable in every
respect … and impossible to comprehend either in his moral or his
physical relations.” Poe continues, “But in no regard was he more
peculiar than in his personal appearance. He was singularly tall and
thin. He stooped much. His limbs were long and emaciated. His forehead
was broad and low. His complexion was absolutely bloodless … his teeth
were more wildly uneven than I had ever before seen in a human head.”3
This
description captures many of the phenotypic features of the Marfan
syndrome. The musculoskeletal abnormalities known as dolichostenomelia
are caused by overgrowth of the long bones. Bedloe's tall stature and
long limbs indicate the classic Marfan phenotype, with a
disproportionate appearance due to long bone overgrowth. Overgrowth of
the bones of the skull creates an abnormally appearing forehead, and
dental crowding, with teeth “wildly uneven,” can be extreme in profound
cases. Bedloe likely “stooped much” because of severe scoliosis and/or
lumbar lordosis, which was likely accompanied by an anterior chest wall
or pectus abnormality. The skin is also affected and often appears
“absolutely bloodless.” Poe was fascinated by eyes; describing Bedloe,
he wrote, “his eyes were abnormally large, and round like those of a
cat … yet their condition was so totally vapid, filmy, and dull, as to
convey the idea of the eyes of a long-interred corpse.” The elongated
globe and premature cataracts are also typical of the Marfan syndrome.
Bedloe
would have been greatly afflicted by pain from the consequences of the
musculoskeletal abnormalities. Indeed, Bedloe depended on Dr. Templeton
to dispense large quantities of morphine to treat his “neuralgia,” and
it was Bedloe's “practice to take a very large dose of it immediately
after a cup of strong coffee … and then set forth … upon a long ramble
among the chain of wild and dreary hills that lie westward and southward
of Charlottesville, and are dignified by the title of the Ragged
Mountains.” The tale centers on one particular excursion, during which
Bedloe experiences fantastic visions transplanting him back in time to
witness a historical insurrection in Benares, India, in 1780. Dr.
Templeton easily deciphers this supernatural recounting of Bedloe's
experience, because he was present at the battle in question and while
there witnessed the death of his “dearest friend.” By tale's end, Bedloe
is dead. After his excursion, “a slight cold and fever were contracted,
attended with great determination of blood to the head.”
As
a native of Charlottesville, and as someone who grew up in the Ragged
Mountains, I have been unusually attentive to this obscure tale of Edgar
Allan Poe. As a cardiologist with a specialty interest in adult
congenital heart disease, I have been privileged to meet and follow many
patients with the Marfan syndrome. Upon rereading “A Tale of the Ragged
Mountains,” after years of practicing congenital heart disease, it was
unmistakably apparent to me that Bedloe is a profound phenotype of the
Marfan syndrome. Accordingly, he would have had progressive dilation of
the aorta and associated aortic regurgitation with water-hammer pulses
“with great determination of blood to the head.” He may have also had
mitral valve prolapse and mitral regurgitation. The pattern of
inheritance is autosomal dominant, thus, without treatment, we would
expect a family history of premature death in affected patients. Poe
elaborates on Bedloe, “Of his family I could obtain no satisfactory
account.” Perhaps many had predeceased him. I do not know if Bedloe
succumbed to an aortic dissection, infective endocarditis, or heart
failure. Regardless, Dr. Templeton's therapeutic decision to bleed Mr.
Bedloe with medicinal leeches reminds me of the ill-begotten
phlebotomies in cyanotic patients with Eisenmenger syndrome and
erythrocytosis that were carried out until recent years.
Poe
was an early and innovative explorer of human imagination. He is widely
credited as the originator of the detective genre. Indeed, Sir Arthur
Conan Doyle fashioned Sherlock Holmes after Monsieur C. Auguste Dupin,
Poe's investigator in “The Murders in the Rue Morgue.” Poe's short story
“Ligeia” was a pioneering early venture into the science fiction genre.
It has been argued that Marfan's original patient, Gabrielle, was not a
child with the Marfan syndrome and that she actually had a related
fibrillin-2 disorder known as congenital contractural arachnodactyly, or
Beals syndrome.4
Several decades before Professor Marfan's case description, Edgar Allan
Poe may well have achieved another first, as we find a much stronger
description of this syndrome in fiction, meticulously described by an
eccentric author fascinated by deviations of imagination, bone, and
flesh.
Acknowledgment
I am grateful to Richard Crampton, MD, for his assistance and encouragement in the preparation of this report.
References
| |
Wednesday, 20 April 2016
March 20
