Cardiac phenotypic spectrum of KCNT1 mutations. (4th December 2020)
- Record Type:
- Journal Article
- Title:
- Cardiac phenotypic spectrum of KCNT1 mutations. (4th December 2020)
- Main Title:
- Cardiac phenotypic spectrum of KCNT1 mutations
- Authors:
- Kohli, Utkarsh
Ravishankar, Chitra
Nordli, Douglas - Abstract:
- 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.
- Is Part Of:
- Cardiology in the young. Volume 30:Number 12(2020)
- Journal:
- Cardiology in the young
- Issue:
- Volume 30:Number 12(2020)
- Issue Display:
- Volume 30, Issue 12 (2020)
- Year:
- 2020
- Volume:
- 30
- Issue:
- 12
- Issue Sort Value:
- 2020-0030-0012-0000
- Page Start:
- 1935
- Page End:
- 1939
- Publication Date:
- 2020-12-04
- Subjects:
- KCNT1 mutations, -- systemic-to-pulmonary artery collaterals, -- prolonged QTc, -- left heart enlargement, -- pulmonary hypertension, -- sudden death, -- heart failure
Pediatric cardiology -- Periodicals
618.9212 - Journal URLs:
- http://journals.cambridge.org/action/displayJournal?jid=CTY ↗
- DOI:
- 10.1017/S1047951120002735 ↗
- Languages:
- English
- ISSNs:
- 1047-9511
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library STI - ELD Digital Store
- Ingest File:
- 15156.xml