Metadata | |
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ID | DOID:0070533 |
Name | long QT syndrome 16 |
Definition | A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. https://pubmed.ncbi.nlm.nih.gov/31454269/, https://pubmed.ncbi.nlm.nih.gov/25460178/ |
Xrefs | |
SKOS |
exactMatch MIM:618782 |
Synonyms |
LQT16 [EXACT] |
Parent Relationships |
is_a long QT syndrome |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |