title: Long QT syndrome: how effective therapy in a single patient favorably influenced the long-term clinical course and genetic understanding of this hereditary disorder.
abstract: The story of the long QT syndrome involved a chance interaction that took place in 1957 when Dr. Moss was shown a unique series of ECGs with a prolonged QT interval in a young deaf boy whose recurrent syncope culminated in sudden death. Who could have predicted that this clinical experience would lead to innovative and effective new therapy for a patient with the long QT syndrome several years later and the subsequent formation of the International Long QT Registry? This Registry has stimulated interactions among and between patients and physicians and has enhanced collaborations involving clinical, genetic, and basic-science investigators. The net result has been a significant improvement in the diagnosis, treatment, and outcome of patients with the long QT syndrome and an overall advancement in the science of medicine - two of the many satisfactions that physicians can experience in the clinical practice of medicine.
authors.affiliation: Sackler School of Medicine, Tel Aviv, Israel.
authors.forename: Katherine M
authors.initials: KM
authors.lastname: Lowengrub
authors.affiliation: Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA.
authors.forename: Deborah R
authors.initials: DR
authors.lastname: Moss
authors.affiliation: Harvard Business School, Boston, MA.
authors.forename: David A
authors.initials: DA
authors.lastname: Moss
authors.affiliation: University of Rochester Medical Center, Rochester, NY. Electronic address: heartajm@heart.rochester.edu.
authors.forename: Arthur J
authors.initials: AJ
authors.lastname: Moss
mesh_terms: D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control*; D004562:Electrocardiography; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D033183:Interdisciplinary Communication; D007391:International Cooperation; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000266:history / Q000401:mortality / Q000503:physiopathology / Q000628:therapy*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D012042:Registries; D012307:Risk Factors; D016896:Treatment Outcome
chemical_list: D005819:Genetic Markers
keywords: LQTS Genetics; LQTS Registry; Long QT Syndrome