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Anales de Otorrinolaringología Mexicana

2003, Number 2

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Otorrinolaringología 2003; 48 (2)

Report of a family with long syndrome of QT, forms recesiva, Jervell and Lange Nielsen

Domínguez-Aburto LJE, Huesca HF, Romero GMR, Zamora C, Cuesta CLM, Mendoza BS

Language: Spanish
References: 15
Page: 21-25
PDF size: 73.81 Kb.


ABSTRACT

The QT long syndrome is a genetic heterogenety disease, It has three variants: dominant, called Romano Ward syndrome, esporadic form or Brugada Syndrome; and recesive form, well-known as Jervell and Lange-Nielsen Syndrome (JLNS) which is an ailment of autosomal recessive inheritance that consists in: bilateral, congenital, profound, sensorineural deafness and cardiopathy characterized by a QT long interval, that can be manifest with sincopal attack in early chidlhood and at the begin of adolescence and sudden death. Its incidence is low. This report show a consanguinity family of five membres, with two members affected diagnosticated as QT Long Syndrome, recessive form, SJLN for cardiologic, audiologic and genetics methods. The syndromic incidence is unknown in Mexico, fews cases are reported. The treatment timely decrease the letality.


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