The woman's heart problem has been linked to a rare genetic disorder. (Image credit: Jolygon via Getty Images)
Patient: 65-year-old woman from Austria.
Symptoms: The woman had been experiencing shortness of breath with activity for several weeks when she presented to a health care provider for evaluation. She also had a history of unusually dark urine since childhood, and had undergone total hip and knee replacements on both sides for arthritis in her 40s.
What happened next: The patient's doctors assessed her heart function with an echocardiogram, which uses ultrasound to visualize blood flow through the heart's valves and chambers. They also performed cardiac catheterization, which involves inserting a long, thin tube through the blood vessels into the heart to examine its valves in more detail and look for narrowed or blocked arteries.
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