Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

@article{Boczek2015IdentificationAF,
  title={Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.},
  author={Nicole J Boczek and Dan Ye and Fang Jin and David Tester and April Huseby and J. Martijn Bos and A. J. Johnson and Ronald J. Kanter and Michael J. Ackerman},
  journal={Circulation. Arrhythmia and electrophysiology},
  year={2015},
  volume={8 5},
  pages={1122-32}
}
BACKGROUND A portion of sudden cardiac deaths can be attributed to structural heart diseases, such as hypertrophic cardiomyopathy (HCM) or cardiac channelopathies such as long-QT syndrome (LQTS); however, the underlying molecular mechanisms are distinct. Here, we identify a novel CACNA1C missense mutation with mixed loss-of-function/gain-of-function responsible for a complex phenotype of LQTS, HCM, sudden cardiac death, and congenital heart defects. METHODS AND RESULTS Whole exome sequencing… CONTINUE READING

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