Utkarsh Kohli, Chitra Ravishankar, Douglas Nordli
Comer Children’s Hospital and Pritzker School of Medicine of the University of Chicago. he Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania.
United States
Cardiology in the Young
Cardiol Young 2020; 30: 1935-1939
DOI: 10.1017/S1047951120002735
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.
Category
Abnormal Systemic to Pulmonary Arterial Collaterals or Connections
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
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