Do You Want to Read a Great Mystery Story About LQTS?
If you like a great story, read Peter Schwartz’ recollection of his 50 years of long QT syndrome (LQTS) research. (European Heart Journal (2021) 42, 1063–1072) Like many great murder mysteries, it starts with a tease. Dr. Schwartz writes, “It all started on 14 October 1970, during the most popular TV quiz programme in Italy, shown in prime time and watched by millions”. During that show, a 19-year old, female contestant, with a history of fainting during exertional and emotional stress, responded to a question by collapsing and dying. The autopsy revealed no perpetrator, but the mother recognized similar symptoms in the victim’s 9-year old sister and had her admitted to the University of Milan hospital and to one of the four beds supervised by Dr. Schwartz. Dr. Schwartz was starting his clinical career, but was also performing basic research on single-fiber recordings from cardiac sympathetic nerves. The younger girl’s ECG showed marked QT prolongation, and despite the common wisdom that the QT was meaningless, Dr. Schwartz via library and basic research was able to implicate QT prolongation as the cause of her problem. His library and animal research also demonstrated that the left stellate ganglion influenced QT prolongation leading to the patient’s left stellate ganglion ablation three years later. Both the doctor’s and the patient’s lives were changed. He went on to a distinguished career in LQTS research, with the help of many whom he acknowledges. She lived until a fatal accident in 2018.
The article presents highlights of LQTS and of Dr. Schwartz’ career. These include the establishment of the international LQTS registry, which proved invaluable in discovering genes related to the disease, and the search for why identical genotypes produce symptomatic and asymptomatic phenotypes. One group of “modifying genes” helps explaining these differences in genotype expression. These genes alter the ubiquitin pathway that catabolizes both normal and abnormal ion canals. The asymptomatic, genotype positive family members were lucky enough to inherit genes that inhibit ion channel catabolism so that the normal ion channels last longer and prevent the abnormal depolarization that would have occurred in their absence. The science is fascinating, the story is personal, and the article is well worth the read.
Kierkegaard wrote the book, “Purity of heart is to will one thing”. This is one man’s story of willing to understand a fatal heart disease.
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