Research & Literature

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Identification and characterization of two ankyrin-B isoforms in mammalian heart.

Wu HC, Yamankurt G, Luo J, et al.

Cardiovascular research 2015; (107(4)):466-77 doi:10.1093/cvr/cvv184.

Pharmacological treatment of acquired QT prolongation and torsades de pointes.

Thomas SH, Behr ER

British journal of clinical pharmacology 2016; (81(3)):420-7 doi:10.1111/bcp.12726.

Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.

Cubeddu LX

Current cardiology reviews 2016; (12(2)):141-54 doi:10.2174/1573403x12666160301120217.

Genetic analysis of Iranian family with hereditary cardiac arrhythmias by next generation sequencing.

Asadi M, Foo R, Samienasab MR, et al.

Advanced biomedical research 2016; (5()):55 doi:10.4103/2277-9175.178801.

Elevated local [Ca2+] and CaMKII promote spontaneous Ca2+ release in ankyrin-B-deficient hearts.

Popescu I, Galice S, Mohler PJ, Despa S

Cardiovascular research 2016; (111(3)):287-94 doi:10.1093/cvr/cvw093.

Common human ANK2 variant confers in vivo arrhythmia phenotypes.

Musa H, Murphy NP, Curran J, et al.

Heart rhythm 2016; (13(9)):1932-40.

Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims: A Report From the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry.

Steinberg C, Padfield GJ, Champagne J, et al.

Circulation. Arrhythmia and electrophysiology 2016; (9(9)).

Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.

Ichikawa M, Aiba T, Ohno S, et al.

Circulation journal : official journal of the Japanese Circulation Society 2016; (80(12)):2435-2442 doi:10.1253/circj.CJ-16-0486.

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.

Huq AJ, Pertile MD, Davis AM, et al.

Heart, lung & circulation 2017; (26(6)):612-618 doi:10.1016/j.hlc.2016.09.013.

Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.

Swayne LA, Murphy NP, Asuri S, et al.

Circulation. Cardiovascular genetics 2017; (10(1)) doi:10.1161/CIRCGENETICS.116.001537.

Avoiding sports-related sudden cardiac death in children with congenital channelopathy : Recommendations for sports activities.

Lang CN, Steinfurt J, Odening KE

Herz 2017; (42(2)):162-170 doi:10.1007/s00059-017-4549-2.

The evolving role of ankyrin-B in cardiovascular disease.

Koenig SN, Mohler PJ

Heart rhythm 2017; (14(12)):1884-1889 doi:10.1016/j.hrthm.2017.07.032.

Ankyrins and Spectrins in Cardiovascular Biology and Disease.

El Refaey MM, Mohler PJ

Frontiers in physiology 2017; (8()):852 doi:10.3389/fphys.2017.00852.

Retrospective study showed that palpitations with tachycardia on admission to a paediatric emergency department were related to cardiac arrhythmias.

Bobbo M, Amoroso S, Tamaro G, et al.

Acta paediatrica (Oslo, Norway : 1992) 2019; (108(2)):328-332 doi:10.1111/apa.14486.

Benefits of an early management of palpitations.

Clementy N, Fourquet A, Andre C, et al.

Medicine 2018; (97(28)):e11466 doi:10.1097/MD.0000000000011466.

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R, Verkerk AO

Frontiers in cardiovascular medicine 2018; (5()):106 doi:10.3389/fcvm.2018.00106.

Long-QT Syndrome and Competitive Sports.

Schnell F, Behar N, Carré F

Arrhythmia & electrophysiology review 2018; (7(3)):187-192 doi:10.15420/aer.2018.39.3.

Ankyrin-B Q1283H Variant Linked to Arrhythmias Via Loss of Local Protein Phosphatase 2A Activity Causes Ryanodine Receptor Hyperphosphorylation.

Zhu W, Wang C, Hu J, et al.

Circulation 2018; (138(23)):2682-2697 doi:10.1161/CIRCULATIONAHA.118.034541.

Na+ microdomains and sparks: Role in cardiac excitation-contraction coupling and arrhythmias in ankyrin-B deficiency.

Chu L, Greenstein JL, Winslow RL

Journal of molecular and cellular cardiology 2019; (128()):145-157 doi:10.1016/j.yjmcc.2019.02.001.

Coupling of the Na+/K+-ATPase to Ankyrin B controls Na+/Ca2+ exchanger activity in cardiomyocytes.

Skogestad J, Aronsen JM, Tovsrud N, et al.

Cardiovascular research 2020; (116(1)):78-90 doi:10.1093/cvr/cvz087.

Long-term proarrhythmic pharmacotherapy among patients with congenital long QT syndrome and risk of arrhythmia and mortality.

Weeke PE, Kellemann JS, Jespersen CB, et al.

European heart journal 2019; (40(37)):3110-3117 doi:10.1093/eurheartj/ehz228.

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.

Roberts JD, Murphy NP, Hamilton RM, et al.

The Journal of clinical investigation 2019; (129(8)):3171-3184.

Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.

Bennett JS, Bernhardt M, McBride KL, et al.

Pediatric cardiology 2019; (40(8)):1679-1687 doi:10.1007/s00246-019-02203-2.

How Patient Perceptions Shape Responses and Outcomes in Inherited Cardiac Conditions.

O'Donovan C, Ingles J, Broadbent E, et al.

Heart, lung & circulation 2020; (29(4)):641-652 doi:10.1016/j.hlc.2019.11.003.

Catheter and Device Management of Inherited Cardiac Conditions.

Bennett R, Campbell T, Kumar S

Heart, lung & circulation 2020; (29(4)):594-606 doi:10.1016/j.hlc.2019.12.009.

Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.

Sucharski HC, Dudley EK, Keith CBR, et al.

Biomolecules 2020; (10(2)) doi:10.3390/biom10020211.

Drug-specific risk of severe QT prolongation following acute drug overdose.

Campleman SL, Brent J, Pizon AF, et al.

Clinical toxicology (Philadelphia, Pa.) 2020; (58(12)):1326-1334 doi:10.1080/15563650.2020.1746330.

[Analyses of triggers for recurrent cardiac events in 38 patients with symptomatic long QT syndrome].

Li K, She F, Yang J, et al.

Zhonghua xin xue guan bing za zhi 2021; (49(2)):165-169 doi:10.3760/cma.j.cn112148-20200529-00443.

A case series of Brugada syndrome with a novel mutation in the ankyrin-B gene: an unusual unmasking in acute myocarditis.

Marketou ME, Zareas I, Kanoupakis E, et al.

European heart journal. Case reports 2021; (5(6)):ytab225 doi:10.1093/ehjcr/ytab225.

Return-to-Play for Athletes With Long QT Syndrome or Genetic Heart Diseases Predisposing to Sudden Death.

Tobert KE, Bos JM, Garmany R, Ackerman MJ

Journal of the American College of Cardiology 2021; (78(6)):594-604 doi:10.1016/j.jacc.2021.04.026.

Anxiety and depression in inherited channelopathy patients with implantable cardioverter-defibrillators.

Singh SM, Murray B, Tichnell C, et al.

Heart rhythm O2 2021; (2(4)):388-393 doi:10.1016/j.hroo.2021.06.001.

Independent validation and clinical implications of the risk prediction model for long QT syndrome (1-2-3-LQTS-Risk).

Mazzanti A, Trancuccio A, Kukavica D, 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 2022; (24(4)):614-619 doi:10.1093/europace/euab238.

Effectiveness of Implantable Cardioverter-Defibrillators to Reduce Mortality in Patients With Long QT Syndrome.

Wang M, Peterson DR, Rosero S, et al.

Journal of the American College of Cardiology 2021; (78(21)):2076-2088 doi:10.1016/j.jacc.2021.09.017.

Psychosocial symptoms of ventricular arrhythmias: Integrating patient-reported outcomes into clinical care.

Sandhu U, Kovacs AH, Nazer B

Heart rhythm O2 2021; (2(6Part B)):832-839 doi:10.1016/j.hroo.2021.09.011.

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

Arbustini E, Behr ER, Carrier L, et al.

European heart journal 2022; (43(20)):1901-1916 doi:10.1093/eurheartj/ehab895.

Ankyrin-2 genetic variants: A case of Ankyrin-B syndrome.

Song J, Sasmita BR, Deng G

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2022; (27(4)):e12933 doi:10.1111/anec.12933.

What Is a Variant of Uncertain Significance in Genetic Testing?

Nicolosi P, Heald B, Esplin ED

European urology focus 2022; (8(3)):654-656 doi:10.1016/j.euf.2022.03.018.

β-blocker adherence among patients with congenital long QT syndrome: a nationwide study.

Krøll J, Butt JH, Jensen HK, et al.

European heart journal. Quality of care & clinical outcomes 2022; (9(1)):76-84 doi:10.1093/ehjqcco/qcac017.

Congenital Long QT Syndrome.

Krahn AD, Laksman Z, Sy RW, et al.

JACC. Clinical electrophysiology 2022; (8(5)):687-706 doi:10.1016/j.jacep.2022.02.017.

CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.

Galić E, Bešlić P, Kilić P, et al.

Acta clinica Croatica 2021; (60(4)):739-748 doi:10.20471/acc.2021.60.04.22.

Does sports participation increase risk in patients with long QT syndrome? Results from a large French cohort.

Davydoff C, Andorin A, Minois D, 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 2022; (24(10)):1675-1683 doi:10.1093/europace/euac047.

Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.

York NS, Sanchez-Arias JC, McAdam ACH, et al.

Frontiers in cardiovascular medicine 2022; (9()):964675 doi:10.3389/fcvm.2022.964675.

Approach to the patient with a variant of uncertain significance on genetic testing.

Newey PJ

Clinical endocrinology 2022; (97(4)):400-408 doi:10.1111/cen.14818.

Classic Presentation of Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report.

Hill EE, Schoonover A, Benner C, Chassee TP

Cureus 2022; (14(10)):e29844 doi:10.7759/cureus.29844.

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.

Kontorovich AR

JACC. Heart failure 2023; (11(2)):133-142 doi:10.1016/j.jchf.2022.11.025.

Management of Inherited Arrhythmia Syndromes: A HiRO Consensus Handbook on Process of Care.

Janzen ML, Davies B, Laksman ZWM, et al.

CJC open 2023; (5(4)):268-284 doi:10.1016/j.cjco.2023.02.006.

Impact of stress on cardiac phenotypes in mice harboring an ankyrin-B disease variant.

Wallace MJ, Malhotra N, Mariángelo JIE, et al.

The Journal of biological chemistry 2023; (299(6)):104818 doi:10.1016/j.jbc.2023.104818.

Provocation testing in congenital long QT syndrome: A practical guide.

Abrahams T, Davies B, Laksman Z, et al.

Heart rhythm 2023; (20(11)):1570-1582 doi:10.1016/j.hrthm.2023.07.059.

Personalized Care in Long QT Syndrome: Better Management, More Sports, and Fewer Devices.

MacIntyre CJ, Ackerman MJ

Cardiac electrophysiology clinics 2023; (15(3)):285-291 doi:10.1016/j.ccep.2023.04.007.

Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.

van Pottelberghe S, Kupper N, Scheirlynck E, et al.

European journal of human genetics : EJHG 2024; (32(6)):607-618 doi:10.1038/s41431-023-01510-w.

Tips for Testing Adults With Suspected Genetic Kidney Disease.

Savige J

American journal of kidney diseases : the official journal of the National Kidney Foundation 2024; (83(6)):816-824 doi:10.1053/j.ajkd.2023.10.011.

The frequency of gene variant reclassification and its impact on clinical management in the inherited arrhythmia clinic.

Young WJ, Maung S, Ahmet S, et al.

Heart rhythm 2024; (21(6)):903-910 doi:10.1016/j.hrthm.2024.01.008.

Variant reclassification and clinical implications.

Walsh N, Cooper A, Dockery A, O'Byrne JJ

Journal of medical genetics 2024; (61(3)):207-211 doi:10.1136/jmg-2023-109488.

Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.

Murphy J, Kirk CW, Lambert DM, et al.

Irish journal of medical science 2024; (193(4)):1775-1785 doi:10.1007/s11845-024-03650-4.

New Guidelines of Pediatric Cardiac Implantable Electronic Devices: What Is Changing in Clinical Practice?

Silvetti MS, Colonna D, Gabbarini F, et al.

Journal of cardiovascular development and disease 2024; (11(4)) doi:10.3390/jcdd11040099.

Vigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study.

Lampert R, Day S, Ainsworth B, et al.

Circulation 2024; (150(7)):516-530 doi:10.1161/CIRCULATIONAHA.123.067590.

Palpitations: Evaluation, Management, and Wearable Smart Devices.

Gauer RL, Thomas MF, McNutt RA

American family physician 2024; (110(3)):259-269.

Cardiac channelopathies in pediatrics: a genetic update.

Martínez-Barrios E, Campuzano O, Greco A, et al.

European journal of pediatrics 2024; (183(11)):4635-4640 doi:10.1007/s00431-024-05757-3.

Long-term Monitoring to Detect Risk of Sudden Cardiac Death in Inherited Arrhythmia Patients.

Domain G, Steinberg C, Davies B, et al.

CJC open 2024; (6(9)):1066-1074 doi:10.1016/j.cjco.2024.05.007.

Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department.

Horgan S, Kotwal H, Malan A, et al.

Journal of medical genetics 2025; (62(3)):185-190 doi:10.1136/jmg-2024-110208.

Left Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete.

De Masi De Luca G, Brancati E, Sciarra L, et al.

Journal of clinical medicine research 2025; (17(1)):60-65 doi:10.14740/jocmr6126.

Self-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition.

Lin PH, Ho CJ, Lin CH, et al.

Epilepsia open 2025; (10(2)):635-642 doi:10.1002/epi4.70003.

Utility of Cardiopulmonary Exercise Testing in Assessing Beta-Blocker Efficacy in LQTS: Moving Away From One-Size-Fits-All.

El Assaad I, Heilbronner AK, Zahka K, et al.

Journal of cardiovascular electrophysiology 2025; (36(9)):2287-2295 doi:10.1111/jce.70001.

Psychosocial impact of inherited arrhythmia syndromes on anxiety in paediatric patients and their families.

Babayeva S, Akgül S, Karagöz T, Ertuğrul İ

Cardiology in the young 2025; (35(8)):1683-1689 doi:10.1017/S1047951125101236.

Management of channelopathies in children.

Krause U

Herzschrittmachertherapie & Elektrophysiologie 2025; (36(3)):186-191 doi:10.1007/s00399-025-01098-2.

Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings.

Murray B, Gordon C, Christian S, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.09.29.25336936.

Approach to prolonged QT interval in paediatric and neonatal patients.

Buratti G, Shrestha S, Donne M, Katta P

European journal of pediatrics 2025; (184(12)):778 doi:10.1007/s00431-025-06641-4.

Finding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.

McElduff ML, Turner C, Costa DSJ, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2026; (35(1)):25 doi:10.1007/s11136-025-04141-4.

Ryanodine receptor 2 mutations in catecholaminergic polymorphic ventricular tachycardia: From molecular mechanisms to precision medicine.

Sharma V

World journal of cardiology 2026; (18(2)):111032 doi:10.4330/wjc.v18.i2.111032.

Hidden Cardiac Channelopathies in Children Presenting with Syncope and Seizure-like Events.

Aytekin Güvenir F, Özgür S

Children (Basel, Switzerland) 2026; (13(5)) doi:10.3390/children13050669.

High-degree atrioventricular block in a child with an ANK2 variant and long QT phenotype requiring leadless pacemaker implantation.

You J

Cardiology in the young 2026; (36(7)):1532-1535 doi:10.1017/S1047951126123464.

Antiemetic-associated QT prolongation: a clinical review and risk-stratified prescribing framework for long QT syndrome.

Moustafa AT, Dabash O, Panigrahi PK, Khan HR

European heart journal. Cardiovascular pharmacotherapy 2026; (12(7)):556-567 doi:10.1093/ehjcvp/pvag077.

[Ten questions about cardiogenetics].

Fortuni F, Matteucci A, Angelini F, et al.

Giornale italiano di cardiologia (2006) 2026; (27(11)):758-770 doi:10.1714/4793.48190.