HRS Board Review 2025 New Courses (Reviewers Copy)-Workshop 1_Electrocardio_London_2025

Video Transcription

Case three, a 32-year-old man, Joe, with three children, comes to you for evaluation of possible Long QT syndrome. His QT corrected interval is 440 milliseconds.  His older brother has a corrected QT interval of 490 milliseconds, had aborted sudden death, and has a defibrillator. This is the pedigree of Joe's family.  So Joe, the proband, is shown here by the arrow. His affected brother is shown here. His father died suddenly at age 45. His paternal grandmother died suddenly at age 38.  Joe has three children, age eight, six, and two. Which of the following statements best describes the role of genetic testing? A, genetic testing will have no clinical benefit  in this family. B, Joe should be tested using a Long QT syndrome gene panel. If positive, others in his family should be tested cascade screening. C, Joe's brother should be tested  using a Long QT gene panel. Joe and his brother should only be tested if a gene is identified. D, Joe's brother should be tested using a Long QT syndrome gene panel.  If no mutation is found, Joe should be tested by whole exome sequencing. E, a negative genetic test in Joe's brother means that both Joe's brother and Joe  do not have Long QT syndrome.

Video Summary

Joe, a 32-year-old man with a family history indicative of Long QT syndrome, is evaluated for the condition. His QT corrected interval is 440 milliseconds, while his brother has a higher interval and a history of aborted sudden death. Their father and paternal grandmother both died suddenly, suggesting a potential genetic condition. Considering the family's history, the best course of action is to conduct genetic testing on Joe using a Long QT syndrome gene panel. If the test is positive, cascade screening should be utilized to test other family members for the condition.

Keywords

Long QT syndrome

genetic testing

family history

cascade screening

QT interval