Dictionary of Human Evolution and Biology

Dictionary of Human Evolution and Biology

Long-QT Syndrome

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 mutant autosomal dominant gene in LQT is KCNQ1. One of the ion channel diseases.Exhibits evidence for genomic imprinting. LQT has also been investigated in some SIDS cases. Aka Romano-Ward syndrome; includes a variant known as the Jervell and Lange-Nielson syndrome.

Full-Text Search Entries

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 ( ...)
Angelman syndrome (AS) (... happy puppet syndrome, Prader-Willi/Angelman syndrome. See Prader-Willi syndrome.)
cri-du-chat syndrome (... adulthood. Aka cat’s cry syndrome, 5p-syndrome.)
Albright syndrome (... Sternberg syndrome, McCune-Albright syndrome. Formerly called Albright’s disease.)