Congenital, heritable condition predisposing affected individuals to heart arrhythmia, fainting, and sudden cardiac arrest in the presence of loud sounds or during exercise. Defective potassium channels result in the accumulation of potassium in the heart and inner ears, resulting in heart defects and deafness. The mutantautosomal dominantgene in LQT is KCNQ1. One of the ion channel diseases.Exhibits evidence for genomic imprinting. LQT has also been investigated in some SIDScases. Aka Romano-Ward syndrome; includes a variant known as the Jervell and Lange-Nielson syndrome.
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ion channel diseases (... include hyperkalemic periodic paralysis, long-QT syndrome and cystic fibrosis.)
Down syndrome (Profound phenotype caused by the presence of three copies of all the genes on chromosome 21 ( ...)