Long QT Syndrome historical perspective
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Historical Perspective
In 1856, the German physician Friedrich Ludwig Meissner witnessed a deaf girl collapse and die after being sternly admonished at school.[1] This is the earliest record of what is thought to have been a stress-induced, fatal, cardiac arrhythmia. There is corroborating evidence for this claim. Current understanding of the pathophysiology of LQTS implicates stress as a condition known to trigger an elongated QT interval and subsequent fatal arrhythmia. Furthermore, mutations in LQT1, an LQTS loci, have been identified as the most common form of LQTS.
In the years following, there were several accounts of familial-associated syncope and deafness that occasionally resulted in death. By the 1950’s electrocardiography was a well established and defined method for observation and diagnoses. The advent of a robust electrocardiogram (ECG) allowed for the precise measurement of intervals between different lines on ECG that by then had been been established as reliable markers of cardiac electrical events.
In 1953, a physician examining the ECG of a deaf boy suffering from frequent syncopes was the first to document what would become the prominent diagnostic feature and namesake of LQTS - the prolonged QT interval. The first complete description of LQTS came in 1957 when Anton Jarvell and Fred Lange-Nielson described a specific form of LQTS that would become known as “Jervell and Lange-Nielsen Syndrome”.
By the early 1990’s, it was becoming clear that LQTS was more than a strict “electrical” disease, but one which also conferred mechanical abnormalities to heart. Furthermore, for the first time, LQTS was discovered to be linked to a particular locus on chromosome 11 called the Harvey ras-1 gene locus. This sparked a rapid and significant endeavor to elucidate the genetic underpinning of LQTS. By the mid 1990’s three genes had been discovered as LQTS loci.
To date, many more LQTS loci have been discovered. The loci affect a diverse group of cardiac ion channels and the supporting cast of proteins which orchestrate the cardiac action potential. Most of these mutations fall into three broad categories: LQT1, LQT2, and LQT3. Work continues to be done to identify novel LQTS loci. Sudden cardiac death is responsible for the greatest number of annual deaths in the U.S. every year. [2] Thus, a long term goal of these efforts continues to be the development of insightful and clinically-relevant risk stratification algorithms to better predict and treat LQTS in at-risk patients.
References
- ↑ "QTsyndrome.ch - History Of a Heart Disease".
- ↑ Zheng ZJ, Croft JB, Giles WH, Mensah GA (2001). "Sudden cardiac death in the United States, 1989 to 1998". Circulation. 104 (18): 2158–63. PMID 11684624. Unknown parameter
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