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Cardiac phenotypic spectrum of KCNT1 mutations

Published online by Cambridge University Press:  04 September 2020

Utkarsh Kohli Open the ORCID record for Utkarsh Kohli [Opens in a new window] ,
Chitra Ravishankar  and
Douglas Nordli
Utkarsh Kohli*
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Comer Children’s Hospital and Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA
Chitra Ravishankar
Affiliation:
Division of Cardiology, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
Douglas Nordli
Affiliation:
Section of Child Neurology, Department of Pediatrics, Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA
*
Address for correspondence: Utkarsh Kohli, Assistant Professor of Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, Comer Children’s Hospital and the Pritzker School of Medicine of University of Chicago, 5841 S Maryland Ave., Chicago, IL60637, USA. Tel: +1 773 702 6172; Fax: +1 773 702 2319. Email: ukohli@peds.bsd.uchicago.edu/utkarshkohli@gmail.com
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Abstract

We report a 10-month-old girl with KCNT1 (c1420C > T; p. Arg474Cys, R474C) mutation-associated epileptic encephalopathy, systemic-to-pulmonary artery “collateralopathy”, and intermittent QTc prolongation. Spontaneous regression of systemic-to-pulmonary artery collateral-mediated left heart dilation was noted in this patient, a finding which was ominous as it heralded the onset of severe pulmonary hypertension. The structural and electrical phenotypic features of KCNT1 mutation-associated heart disease, including the novel findings noted in our patient, are discussed in detail.

Keywords

KCNT1 mutationssystemic-to-pulmonary artery collateralsprolonged QTcleft heart enlargementpulmonary hypertensionsudden deathheart failure
Type
Brief Report
Information
Cardiology in the Young , Volume 30 , Issue 12 , December 2020 , pp. 1935 - 1939
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Copyright
© The Author(s), 2020. Published by Cambridge University Press

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