Commentary by David B. Roth, M.D., Ph.D., Chair, Department of Pathology, 2004-2011
Chopin, a Missing Autopsy Report, and Molecular Pathology September 8, 2008
According to my not-so-current edition of Grove's Dictionary of Music and Musicians (3rd Edition, 1946), Frédéric Chopin was born in the village of Żelazowa Wola, near Warsaw, in 1810. Although he had a major impact as a composer, with a catalogue of over 200 brilliant compositions, he was disabled by a mysterious, debilitating chronic disease and died quite young at the age of 39. Indeed, according to Grove's Dictionary, he began to exhibit "unmistakable signs of pulmonary disease" by the age of 27. A prolonged illness during the winter of 1835 led to rumors of his premature demise. In 1838, during a visit to Majorca, his condition deteriorated to the point that his landlord, fearful of "consumption" (as chronic tuberculosis was then known) insisted that he vacate his rented house, and pay for the process of disinfecting it—an ordeal which included burning and replacing all the furniture.
During this trip, Chopin is reported to have quipped "I have been sick as a dog during these past two weeks. Three doctors have visited me. The first said I was going to die; the second said I was breathing my last; and the third said I was already dead." Chopin's health continued to deteriorate over the next few years, and he died in Paris in 1849. After a funeral service that included a performance of Mozart's Requiem, his body (minus the heart) was interred in the cemetery of Père la Chaise, near the graves of his friends Bellini and Cherubini. His heart, preserved in a crystal urn filled with alcohol (believed to be cognac), resides in a pillar in Warsaw's Holy Cross Church.
What was the nature of Chopin's prolonged respiratory illness? Historians have long maintained that he died of chronic tuberculosis—a reasonable theory, given the prevalence of this dreaded disease at that time. But several pieces do not seem to fit, and medical historians have recently challenged this diagnosis.
Chopin's symptoms appeared to predate puberty, as reported by his close friends George Sand (the Baroness Dudevant, Amandine Aurore Lucile Dupin) and composer Franz Liszt. As Majka and colleagues note, Chopin's brief life was plagued by "multiorgan complaints that started...in childhood... Recurrent diarrhoeas, gastro-intestinal ailments result[ed] in weight loss...accompanied by frequent respiratory tract infections. In 1826 (at the age of 16), he had an illness lasting 6 months, in which respiratory symptoms and headaches were prominent symptoms" (2). Chopin also experienced repeated episodes of respiratory infections, with hemoptysis, hematemesis, and recurrent fevers. He was extremely thin, but barrel-chested, with thin limbs (1,2), consistent with a chronic respiratory disease. Chopin's puberty was apparently delayed, and he may have suffered from infertility (1,2).
Is there evidence to support a genetic etiology? Two of Chopin's three sisters showed similar symptoms and died prematurely at the ages of 14 and 47. And the pathology? During his last months, Chopin was treated by a noted pathologist, Dr. Jean Cruveilhier, who was considered "the best specialist in tuberculosis and pathology in Paris" (2). (Indeed, Cruveilhier authored a noted pathological atlas, Anatomie pathologique du corps humain; 1844). Cruveilhier performed Chopin's autopsy, removing the heart which was sent back to Poland according to the composer's will. Although the death certificate (now lost) lists "tuberculosis of the lungs and larynx" as the cause of death, extant records provide a different account.
In these records, Cruveilhier states that Chopin's illness "is a disease I have never encountered before" (1) and continues to list its characteristics: "diverse pathology...enlarged heart...lung changes of many year[s] duration...did not disclose pulmonary consumption" (1). These findings are consistent with cystic fibrosis, which was first described in the 1930s, long after Chopin's death, and argue against pulmonary tuberculosis, on which Cruveilhier was a noted expert. But the differential diagnosis is long, and also includes tuberculosis, emphysema (possibly from another genetic cause, alpha-1 antitrypsin deficiency), bronchiectasis, allergic bronchopulmonary aspergillosis, and hypogammaglobulinema (congenital or acquired).
Molecular pathology tools could reveal the solution to this medical mystery, or at least rule out genetic causes. Recently, a team of investigators from Warsaw's Institute of Molecular and Cell Biology proposed testing Chopin's preserved heart tissue for the cystic fibrosis mutation. CF would explain many facets of the case, including recurrent pulmonary infections, GI symptoms, and infertility. Unfortunately for those of us interested in solving the case, Polish authorities denied access to the tissue, leaving us in the dark, at least for the time being. Meanwhile, we can still enjoy Chopin's musical genius (for further study, hear (3)).