A rare genetic disease painted the heart of a 65 -year -old woman from Austria.
Hanna (fictional name) suffered from shortness of breathe During physical activity several weeks ago, when he went to a hospital to be evaluated.
It also had a history of dark urinewhat happened since childhood; and at the age of 40, he had been subjected to total hip and knee prostheses on both sides due to arthritis.
As reported A, doctors soon verified their cardiac function with an echocardiogram; and they also made a cardiac catheterization.
The evaluations revealed that the woman had severe aortic stenosisin which the Aortic heart valve is narrowed or blocked. This valve opens normally to allow oxygen-rich blood to flow from the heart to the rest of the body, so stenosis prevents this crucial blood flow.
The patient underwent open heart surgery to replace the aortic valve. Thirteen days later, he was discharged from the hospital. In a report on the case, one of the woman’s doctors noted that, three years after surgery, the patient was still free from cardiovascular symptoms.
Until something was weird…
“What makes this case unique?”
As you write, the most common risk factors for aortic stenosis include high cholesterol, high blood pressure or a smoking history.
This condition often coincides with the coronary artery diseasewhich is characterized by the accumulation of plaques in one or more arteries that provide blood to the heart.
In the case of this 65 -year -old patient, the coronary arteries seemed normal, but doctors discovered something unusual during their open -heart surgery: “Black Pigmentation” and “Calcified Black Black Tissues” in the aorta and the aortic valve, respectively.
The tissue removed during surgery was examined to the microscope. This exam revealed “Brown pigment deposition” in hardened areas of the aortic valve and in some of the non -calcified tissues of the structure. In the hardened fabric of the valve, the team also found signs of chronic inflammationincluding the presence of “pigment” immunity cells. Also registered degeneration in valve connective tissues.
Rare disease called alkaponuria
Based on these results, as well as the patient’s medical history, doctors determined that Hanna suffered from a rare genetic disease called alcaptonuria.
Alcaptunuria is caused by mutations in a gene called HGDwhich contains instructions for an enzyme that helps decompose two protein construction blocks in the body: phenylalanine and tyrosine.
These mutations make the enzyme less effective, which causes the accumulation of a byproduct of phenylalanine and tyrosine.
The byproduct, the Homogenic acidIt is excreted in the urine, which causes the pee to darken when exposed to the air. In people with alkaponuria, homogentic acid is too great to be excreted by the body, so substance accumulates in connective tissues.
O accumulated acid becomes a “ocronic pigment”which essentially stains the tissues where it accumulates and ends up calcifying or hardening.
Many people with alcaptonura need to replace joints because they have calcified and in some people this calcification also affects the heart. This is what happened to this 65 -year -old woman.
According to Live Science, worldwide, it is thought that this hereditary disease affects 1 in 250,000 to 1 in 100,000 people.
