en POLSKI
eISSN: 2449-6731
ISSN: 2449-6723
Prenatal Cardiology
Current issue Archive About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
1/2022
 
Share:
Share:
abstract:
Case report

A newborn with Timothy syndrome and torsades de pointes

Eliane Lucas
1
,
Nathalie J.M. Bravo-Valenzuela
2
,
Talita N. Loureiro
2
,
Anette P.B. Madruga
1
,
Lívia Maria de Andrade Sacramento
1
,
Camille C. Lima
1
,
Sérgio Alexandre Pereira Gonçalves
2

  1. Department of Paediatrics, Paediatric Cardiology, Federal Bonsucesso Hospital, Rio de Janeiro, Brazil
  2. Department of Paediatrics, Federal University of Rio de Janeiro, Brazil
Prenat Cardio 2022; 12(1): 35-38
Online publish date: 2022/12/30
View full text Get citation
 
PlumX metrics:
Timothy syndrome (TS) is a rare multisystem disease with a characterized association of long QT syndrome (LQTS) type-8 with congenital cardiac and extracardiac malformations (neurological and dysmorphic facial features, syndactyly). It is caused by heterozygous mutations in the CACNA 1C gene, which participates in decoding the calcium channels. In this study, we describe a case of TS with systemic phenotypic characteristics associated with a long QT interval on the electrocardiogram. The LQTS predisposes to a characteristic life-threatening ventricular arrhythmia known as torsades de pointes or “twisting of the points”. In this scenario, the authors describe the main clinical characteristics in a case of TS focusing on improving the ability of early diagnosis and on better management of LTQS type-8.
keywords:

Timothy syndrome, torsade de pointes, echocardiography

Quick links
© 2024 Termedia Sp. z o.o.
Developed by Bentus.