Association of the long QT syndrome With goiter and deafness

Sami Gritli; Mamia Ben Salah; Abdessalem Shili; Caroline D Robson; Mohamed Ferjaoui; Lotfi Hendaoui; Ali Belhani; Sarrah Baltagi-Ben Jilani; James F Gusella; Calum A Macrae

doi:10.1016/j.amjcard.2009.10.034

Association of the long QT syndrome With goiter and deafness

Am J Cardiol. 2010 Mar 1;105(5):681-6. doi: 10.1016/j.amjcard.2009.10.034.

Authors

Sami Gritli¹, Mamia Ben Salah, Abdessalem Shili, Caroline D Robson, Mohamed Ferjaoui, Lotfi Hendaoui, Ali Belhani, Sarrah Baltagi-Ben Jilani, James F Gusella, Calum A Macrae

Affiliation

¹ Cardiovascular Research Center, Developmental Biology Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA. gritli@helix.mgh.harvard.edu

PMID: 20185017
DOI: 10.1016/j.amjcard.2009.10.034

Abstract

We report on the long QT syndrome occurring in conjunction with nontoxic multinodular goiter and sensorineural deafness in several siblings of a large family. Autosomal and X-linked recessive and dominant modes of inheritance are possible for the different phenotypes. The affected family members had various phenotype combinations, suggesting variable expressivity and incomplete penetrance.

Publication types

Case Reports

MeSH terms

Adolescent
Adult
Aged, 80 and over
Child
Death, Sudden / epidemiology
Female
Goiter / complications*
Goiter / genetics
Hearing Loss, Sensorineural / complications*
Hearing Loss, Sensorineural / genetics
Humans
Infant
Infant, Newborn
Long QT Syndrome / complications*
Long QT Syndrome / genetics*
Male
Pedigree
Tunisia
Young Adult