Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a mouthful of a heart disease that’s essentially an invisible ticking time bomb for the estimated 1 in 10,000 people who have it. Often, the rare genetic disease goes undetected; those who carry it have hearts that appear structurally and functionally normal under typical circumstances.
But physical or emotional stress can trigger a life-threatening irregular heart rhythm, leading to a diagnosis that can arrive tragically late.
“If you don’t have a known family history of the disease, the first appearance of the disease could be a sudden-death event,” says Alana Stempien, a 2022 PhD graduate in biomedical engineering from the University of Wisconsin-Madison.
Read full story at https://engineering.wisc.edu/news/cell-mechanics-offers-new-clue-in-genetic-heart-disease/