Autopsy is often an overlooked source of medical insight which may be hindering advances in cardiovascular medicine, according to new research published in a special issue of the American Heart Association's journal Circulation.

"Autopsy is a source of discovery that informs the way we think about disease systemically," said Jeffrey E. Saffitz. "Atherosclerosis, hypertension, diabetes and metabolic syndrome—these are the diseases you study during an autopsy. These are the diseases that are killing hundreds of thousands of people and autopsy is important to help understand how these diseases develop and progress."

The special issue explores the role of autopsy in cardiovascular medicine through a series of original papers and commentaries. "If the papers and commentaries in this issue of Circulation are any indications, there is still much to be learned from the autopsy," Saffitz said.

Autopsy information provided the first image of the human coronary system 60 years ago when Monroe Schlesinger was the first to image the human coronary system by X-ray of autopsy hearts injected with a lead-based agar medium.

Their findings provided insight into the basic processes underlying chest pain and heart attack; identified collateral heart circulation; defined the anatomy of the disease heart and the vascular changes of congestive heart failure and cardiogenic shock.

Michael J. Ackerman et al. studied sudden unexplained death in the young at a cellular level using a technique called whole exome molecular autopsy. The process was used on 25 cases that occurred in the Chicago area from January 2012 through December 2013. Twelve deaths were in blacks and 13 in whites.

They identified 27 ultra-rare mutations in 16 of the 25 autopsies (64%). Nine of those unusual defects occurred in 12 blacks (75%) and seven in 13 whites (54%). Ackerman's team concluded that 14% of the cases represented mutations that could have been detected by genetic testing, which suggests the need for genetic testing of surviving family members.

In the second study, Florian Blaschke et al. studied autopsy subjects with cardiac implantable electronic devices (CIEDs). These devices often store valuable downloadable information which is useful to determine cause, mechanism and time of death more precisely than autopsy alone.

Cardiac implanted electronic devices and autopsies

The researchers collected and analyzed data from 151 cardiac implanted electronic devices—109 pacemakers, 35 defibrillators and seven implantable loop recorders—removed during 5,368 autopsies conducted from February 2012 to April 2017. Device and data analysis determined the time of death in 70% of these cases and clarified the cause of death in 60.8%. In addition, device analysis in an important tool to detect potential CIED-related safety issues.

In the last study, David Herrington et al. took tissue samples harvested from 100 autopsies of young adults and used mass-spectrometry to identify early signs of "re-wiring" at a cellular level that appear to be the earliest sign of atherosclerosis.

Tests of the tissue samples detected changes in a handful of mitochondrial proteins—considered the building blocks of tissue. Importantly all the changes occurred in protein networks believed to be markers for atherosclerosis.

Herrington's work, Shaffitz said, is representative of the role autopsy information can play in the American Heart Association's One Brave Idea initiative, which is intended as a multipronged campaign to identify the root cause of heart disease and identify strategies to prevent it.