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 Marfan 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. 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.”

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. 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.

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Dec 16, 2016 | Posted by in CARDIOLOGY | Comments Off on Edgar Allan Poe: A Case Description of the Marfan Syndrome in an Obscure Short Story

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