Researchers Have Discovered a Novel Gut and Heart Disease

A Canadian research team has discovered a rare disease named Chronic Atrial Intestinal Dysrhythmia syndrome (CAID) caused by a unique genetic mutation that affects both intestinal tract and heart rates.

In study results published in Nature Genetics, the authors suggest that the rare genetic mutation connects the rhythmic contractions of the heart and guts. Led by Gregor Andelfinger, MD, a pediatric cardiologist and researcher at CHU Sainte-Justine, Canada, the research team analyzed the DNA of patients of French-Canadian and Scandinavian origin who were afflicted with both the cardiac and the gastrointestinal conditions.

They were able to identify the mutation in the gene SGOL1 that is unique to patients exhibiting symptoms of both conditions. SGOL1 is reported to decrease the protection of targeted nerve and muscle cells in the gut and the heart, inherentlyresulting in premature aging from an accelerated replication cycle.

Findings show that on the cardiac front, patients suffer primarily from a slow heart rate, a condition which will require a pacemaker implantation for at least half of those afflicted, often as early as in their childhood. In terms of digestive wellness, many patients will be forced to solely feed intravenously due to a chronic intestinal pseudo-obstruction — many of whom will unfortunately have to undergo bowel surgery.

To alleviate any additional concerns, Andelfinger and his team managed to “ensure it was ruled out in people showing only one of the profiles."

Researchers have actually developed a diagnostic test that "will identify with certainty the syndrome, which is characterized by the combined presence of various cardiac and intestinal symptoms," said Andelfinger.

Interesting to note, the experts traced the genealogy of 8 of the French-Canadian originating patients and discovered ancestry dating back to a founder couple married in France in 1620.

Additionally, Philippe Chetaille, MD, a pediatric cardiologist and researcher at the university hospital CHU de Québec, commented, "The symptoms are severe, and treatments are very aggressive and invasive.”