en POLSKI
eISSN: 2449-6731
ISSN: 2449-6723
Prenatal Cardiology
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1/2022
 
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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
Online publish date: 2022/12/30
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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

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