J Wave Syndrome
The J wave syndrome is a recently recognized entity which includes rare diseases with different etiologies. It constitutes an electric disorder of the heart characterized by a specific pattern on the electrocardiogram. It is caused by the abnormal function of some cardiac ion channels. This abnormality predisposes to the development of ventricular arrhythmias that can cause syncope, cardiac arrest or sudden death, these often constituting the first manifestations of the disease.
- Patients diagnosed of early repolarization, defined as a J-point elevation in ?1 mm in ?2 contiguous inferior and/or lateral leads, and showing some of the following characteristics: personal or familial history of sudden death; history of syncope of unknown origin; presence of ventricular fibrillation of unknown origin.
- Relatives of patients diagnosed with J wave syndrome.
J Wave Syndrome
The panel includes all genes with clinical or functional evidence of association with this entity. Many of these genes are associated with channelopathies whose electrocardiographic manifestation overlaps with the one corresponding to this syndrome, such as Brugada syndrome, ventricular fibrillation and early repolarization. In certain subjects, this manifestation constitutes a marker of sudden death risk.
CACNA1C, CACNA2D1, CACNB2, KCNJ8, SCN1B, SCN5A, ABCC9, ANK2, GPD1L, HCN4, KCND3, KCNE1L, KCNE3, PKP2, RANGRF, SCN10A, SCN2B, SCN3B, SLMAP, TRPM4, ANK3*, CACNA1D*, KCNH2*
Other Panels that Include this Diagnosis
Notes on Genes
Priority Genes: These genes include >70% of the mutations that have been previously associated with the development of the disease and/or their testing is recommended by the guidelines. Secondary genes: Other genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.