Table 3.
Definitions and abbreviations
| Term (abbreviation) | Definition |
|---|---|
| Sudden cardiac arrest (SCA) | Sudden cessation of cardiac activity with haemodynamic collapse, typically due to sustained ventricular arrhythmia |
| Sudden cardiac death (SCD) | Death that occurs within 1 h of onset of symptoms in witnessed cases, and within 24 h of last being seen alive when it is unwitnessed |
| Sudden unexplained death (syndrome) [SUD(S)] | Unexplained sudden death occurring in an individual older than 1 year |
| Sudden unexplained death in infancy (SUDI)a | Unexplained sudden death occurring in an individual younger than 1 year with negative pathological and toxicological assessment |
| Sudden arrhythmic death (syndrome) [SAD(S)]b | Unexplained sudden death occurring in an individual older than 1 year with negative pathological and toxicological assessment |
| Abbreviation | |
| ASO | Allele-specific oligonucleotide |
| ACMG | American College of Medical Genetics & Genomics |
| aCGH | Array comparative genomic hybridization |
| ACM | Arrhythmogenic cardiomyopathy |
| ALVC | Arrhythmogenic left ventricular cardiomyopathy |
| ARVC | Arrhythmogenic right ventricular cardiomyopathy |
| AFib | Atrial fibrillation |
| ASD | Atrial septal defect |
| ASS | Atrial stand still |
| AD | Autosomal dominant |
| AR | Autosomal recessive |
| BrS | Brugada syndrome |
| CRDS | Calcium release deficiency syndrome |
| CCD | Cardiac conduction disease |
| RyR2 | Cardiac ryanodine receptor |
| CMR | Cardiovascular magnetic resonance |
| CPVT | Catecholaminergic polymorphic ventricular tachycardia |
| CVS | Chorionic villous sample |
| CMA | Chromosomal microarray |
| CHD | Congenital heart disease |
| CNV | Copy number variant |
| DCM | Dilated cardiomyopathy |
| ERP | Early repolarization pattern |
| ECA | Extracardiac anomaly |
| GWAS | Genome-wide association studies |
| GRS | Genomic risk scores |
| HCM | Hypertrophic cardio-myopathy |
| IVF | Idiopathic ventricular fibrillation |
| ICD | Implantable cardioverter-defibrillator |
| ICC | Inherited cardiovascular conditions |
| JLNS | Jervell and Lange-Nielsen Syndrome |
| LCSD | Left cardiac sympathetic denervation |
| LV | Left ventricular |
| LVH | Left ventricular hypertrophy |
| LVNC | Left ventricular non-compaction cardiomyopathy |
| LB | Likely Benign |
| LP/P | Likely pathogenic/pathogenic |
| LQTS | Long QT syndrome |
| MAF | Minor allele frequency |
| MLPA | Multiplex ligation-dependent probe amplification |
| NGS | Next-generation sequencing |
| PRS | Polygenic risk scores |
| PCR | Polymerase chain reaction |
| PNP | Polyneuropathy |
| PCCD | Progressive cardiac conduction disease |
| RCM | Restrictive cardiomyopathy |
| siRNA | Short interfering RNA |
| SQTS | Short QT syndrome |
| SNP | Single-nucleotide polymorphism |
| SNV | Single-nucleotide variant |
| SND | Sinus node dysfunction |
| SCA | Sudden cardiac arrest |
| SCD | Sudden cardiac death |
| TOF | Tetralogy of Fallot |
| TdP | Torsades de pointes |
| TKOS | Triadin knockout syndrome |
| UCA | Unexplained cardiac arrest |
| UTRs | Untranslated regions |
| VUS | Variants of uncertain clinical significance |
| VF | Ventricular fibrillation |
| VSD | ventricular septal defect |
| WES | Whole-exome sequencing |
| WGS | Whole-genome sequencing |
| WPW | Wolff–Parkinson–White syndrome |
| X-chr | X-chromosomal |
a
Synonymous with ‘sudden unexplained infant death’ (SUID).
b
Synonymous with ‘autopsy-negative sudden unexplained death’.