The question of who discovered heart disease does not have a single answer, as this condition is not one entity but a broad category of disorders affecting the heart and blood vessels. The modern understanding of cardiovascular disease is the result of a scientific evolution spanning millennia, moving from vague symptoms to precise anatomical, pathological, and epidemiological definitions. Evidence for the existence of heart conditions dates back to ancient times, with the Ebers Papyrus from 1550 BCE describing chest pain and findings of atherosclerosis in Egyptian mummies.
Early Foundations of Cardiac Knowledge
Early medical understanding of the heart was fundamentally flawed, largely due to the pervasive influence of the second-century Greek physician Galen, whose theories dominated for over a thousand years. Galen incorrectly taught that blood was created in the liver and then consumed by the body’s tissues, requiring no true circulation. He also postulated that blood passed from the right to the left side of the heart through invisible pores in the interventricular septum.
This long-held paradigm began to unravel during the Renaissance with the work of anatomists like Andreas Vesalius in the 16th century. Vesalius, through meticulous human dissection, challenged Galen’s work and published his findings in De Humani Corporis Fabrica in 1543. He demonstrated that the septum between the ventricles did not contain the pores Galen had described, correcting a major anatomical error.
The most revolutionary discovery came in 1628 when the English physician William Harvey published Exercitatio Anatomica de Motu Cordis et Sanguinis in Animalibus. Harvey used quantitative reasoning and experiments to prove that blood flowed in a continuous, closed loop. He established that the heart functioned as a muscular pump propelling a fixed amount of blood rapidly throughout the body, contradicting the centuries-old theory that blood was constantly replenished.
Defining Specific Heart Pathologies
The 18th and 19th centuries marked the transition from understanding the heart’s function to defining its specific pathologies. Angina Pectoris, characterized by painful chest constriction, was first clearly described by physician William Heberden in 1768. Heberden noted that the sensation was triggered by walking, especially uphill or after a meal, and was immediately relieved by standing still. He based this classic description on observations of nearly 100 patients.
The underlying cause of this chest pain was elucidated by Edward Jenner, who is better known for his work on the smallpox vaccine. Jenner, a surgeon and anatomist, was the first to hypothesize that angina was caused by the hardening and blockage of the coronary arteries, now known as coronary atherosclerosis. Jenner’s early work also included observations linking rheumatic fever to heart valve damage, establishing a pathological basis for specific cardiovascular disorders.
A major advance in clinical diagnosis came in 1816 with the invention of the stethoscope by the French physician René Laënnec. Laënnec was prompted to find a better method of listening to internal sounds when examining an obese female patient. He rolled a sheet of paper into a cylinder, finding that it dramatically amplified heart and lung sounds, leading to the creation of the monoaural wooden tube. This new instrument allowed for “mediate auscultation,” enabling physicians to correlate the specific sounds of murmurs and rales with distinct heart and lung diseases found later during autopsy.
The Twentieth Century Shift to Understanding Causes
The 20th century inaugurated a shift from merely defining heart disease at the bedside or in the autopsy room to understanding its underlying causes, or etiology, on a population level. This transition was spearheaded by the launch of the Framingham Heart Study (FHS) in Framingham, Massachusetts, in 1948. This long-term, multi-generational cohort study was commissioned to investigate the epidemiology of atherosclerotic and hypertensive cardiovascular disease.
The FHS quickly began to identify factors that predisposed people to the disease, an idea that was novel at the time. The study popularized the term “risk factor,” defining it in a landmark 1961 publication that established a direct link between high cholesterol, elevated blood pressure, and cigarette smoking with increased heart disease likelihood. Subsequent FHS findings revealed the role of obesity, physical inactivity, and the protective effect of high-density lipoprotein (HDL) cholesterol.
The work of the Framingham researchers represented a fundamental change, moving the focus away from post-mortem analysis toward preventive medicine. By analyzing thousands of participants over decades, the study provided the data necessary to create algorithms, such as the Framingham Risk Score, to predict a patient’s long-term risk of a coronary event. This epidemiological approach transformed heart disease into a largely preventable condition managed through lifestyle changes and targeted medical interventions.