Last Posted: Apr 01, 2022
- [Sudden cardiac death in young people and in adults: primary and contributing causes. The experience of the multidisciplinary network in Emilia-Romagna].
Leone Ornella et al. Giornale italiano di cardiologia (2006) 2022 23(3) 200-210
- Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc Julien et al. Nature genetics 2022
- Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.
Brunet-Garcia Laia et al. Pediatric cardiology 2022
- Ventricular arrhythmia management in patients with genetic cardiomyopathies.
Sharif Zain I et al. Heart rhythm O2 2022 2(6Part B) 819-831
- The BrAID study protocol: integration of machine learning and transcriptomics for brugada syndrome recognition.
Morales M A et al. BMC cardiovascular disorders 2021 21(1) 494
- Electrophysiological Study Prognostic Value and Long-Term Outcome in Drug-Induced Type 1 Brugada Syndrome: The IBRYD Study.
Russo Vincenzo et al. JACC. Clinical electrophysiology 2021
- Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey.
Conte Giulio et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Dec 22(12) 1904-1910
- Long-term prognosis of women with Brugada syndrome and Electrophysiologic study.
Rodríguez-Mañero Moisés et al. Heart rhythm 2020 Dec
- Role of Non-Coding Variants in Brugada Syndrome.
Pérez-Agustín Adrian et al. International journal of molecular sciences 2020 Nov 21(22)
- Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh Roddy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
- Ajmaline Testing and the Brugada Syndrome.
Rizzo Alessandro et al. The American journal of cardiology 2020 Aug
- Inherited cardiac arrhythmias
PJ Shwartz et al, Nat Rev Dis Primers, July 2020
- A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.
Rucinski Cynthia et al. Journal of the American College of Cardiology 2020 Jun 75(21) 2698-2707
- Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.
Gray Belinda et al. Heart, lung & circulation 2020 Apr
- The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.
Pradat Pierre-François et al. Orphanet journal of rare diseases 2020 Apr 15(1) 90
- The Evolution of Gene-Guided Management of Inherited Arrhythmia Syndromes: Peering Beyond Monogenic Paradigms Towards Comprehensive Genomic Risk Scores.
Rowe Matthew K et al. Journal of cardiovascular electrophysiology 2020 Feb
- Epidemiology and Clinical Characteristics of Atrial Fibrillation in Patients with Inherited Heart Diseases.
Butters Alexandra et al. Journal of cardiovascular electrophysiology 2020 Jan
- Genetic Testing in Inherited Heart Diseases.
Ingles Jodie et al. Heart, lung & circulation 2019 Nov
- Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.
Marschall Christoph et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S292-S298
- Genetics of Unexplained Sudden Cardiac Death in Adult Caucasian and African American Individuals Living in the State of Maryland
L Guo et al, MedRXIV, September 24, 2019
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.