Cardiac phenotypic spectrum of

Female Humans Infant Mutation Nerve Tissue Proteins / genetics Potassium Channels / genetics Potassium Channels, Sodium-Activated Pulmonary Artery / diagnostic imaging
KCNT1 mutations heart failure left heart enlargement prolonged QTc pulmonary hypertension sudden death systemic-to-pulmonary artery collaterals

Journal

Cardiology in the young
ISSN: 1467-1107
Titre abrégé: Cardiol Young
Pays: England
ID NLM: 9200019

Informations de publication

Date de publication:
Dec 2020
Historique:
pubmed: 5 9 2020
medline: 22 6 2021
entrez: 5 9 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1017/S1047951120002735 PMID: 32883383
pubmed: 32883383
pii: S1047951120002735
doi: 10.1017/S1047951120002735
doi:

Substances chimiques

KCNT1 protein, human 0
Nerve Tissue Proteins 0
Potassium Channels 0
Potassium Channels, Sodium-Activated 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1935-1939

Auteurs

Utkarsh Kohli (U)

Division of Pediatric Cardiology, Department of Pediatrics, Comer Children's Hospital and Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA.
ORCID: 0000-0003-3410-840X

Chitra Ravishankar (C)

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 (D)

Section of Child Neurology, Department of Pediatrics, Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cardiac phenotypic spectrum of
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Cardiac phenotypic spectrum of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Cardiac phenotypic spectrum of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Cardiac phenotypic spectrum of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Cardiac phenotypic spectrum of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Canaux potassiques activés par le sodium › Cardiac phenotypic spectrum of
questionsmedicales.fr › Système cardiovasculaire › Vaisseaux sanguins › Artères › Artère pulmonaire › Cardiac phenotypic spectrum of