Bradycardia other diagnostic studies
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Overview
Genetic mutations may potentially play a role in adult sinus node abnormalities and conduction difficulties, however most are caused by increasing vagal tone or inherited diseases. Despite the rarity of familial disorders of sinus node function and conduction abnormalities, a growing number of genetic mutations have been connected to a variety of abnormalities that may manifest as isolated conduction disease or SND or in conjunction with cardiomyopathy, congenital cardiac anomalies, noncardiac developmental disorders, skeletal muscular disorders, or tachyarrhythmias.
Ion channel regulatory proteins, nuclear envelope proteins, membrane adaptor proteins, transcription factors, sarcoplasmic reticulum calcium handling proteins, gap junctions, cardiac hormones, and sarcomeric proteins are all encoded by the involved genes.
2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society[1]
Recommendations for Genetic Testing in Documented or Suspected Bradycardia or Conduction Disorders
| Class I |
| 1.In patients in whom a conduction disorder-causative mutation has been identified, genetic counseling and mutation-specific genetic testing of first-degree relatives is recommended to identify similarly affected individuals. (Level of Evidence: C-EO) |
| Class IIa |
| 1.In patients with inherited conduction disease, genetic counseling and targeted testing may be considered to facilitate cascade screening of relatives as part of the diagnostic evaluation.(Level of Evidence: C-EO) |
References
- ↑ Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR; et al. (2019). "2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society". Circulation. 140 (8): e382–e482. doi:10.1161/CIR.0000000000000628. PMID 30586772.