European Heart Rhythm Association (<scp>EHRA</scp>)/Heart Rhythm Society (<scp>HRS</scp>)/Asia Pacific Heart Rhythm Society (<scp>APHRS</scp>)/Latin American Heart Rhythm Society (<scp>LAHRS</scp>) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Arthur, A M Wilde; Semsarian, Christopher; Manlio, F Márquez; Alireza, Sepehri Shamloo; Michael, J Ackerman; Euan, A Ashley; Back, Sternick Eduardo; Barajas-Martinez, Héctor; Behr, Elijah R.; Connie, R Bezzina; Breckpot, Jeroen; Charron, P.; Chockalingam, Priya; Crotti, Lia; Michael, H Gollob; Lubitz, Steven A.; Makita, Naomasa; Ohno, Seiko; Ortiz-Genga, Martín; Sacilotto, Luciana; Schulze‐Bahr, Eric; Shimizu, Wataru; Sotoodehnia, Nona; Tadros, Rafik; James, Stephen; Schleimer, David; Elizabeth, S Kaufman; Aiba, Takeshi; Bollmann, A; Choi, Jong Il; Aarti, Dalal; Francisco, Darrieux; Giudicessi, John R.; Guerchicoff, Mariana; Hong, Kui; Andrew, D Krahn; Judith, A Mackall; Lluís, Mont; Carlo, Napolitano; Pablo, Ochoa Juan; Peichl, Petr; Alexandre, C Pereira; Juni, Peter; Jon, Skinner; Stellbrink, Christoph; Tfelt-Hansen, J; Deneke, Thomas

doi:10.1002/joa3.12717

Cited by 36 publications

(39 citation statements)

References 508 publications

(1,078 reference statements)

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“…Continuous variables are listed as means and standard deviations. Each of the validated instruments were scored according to the reference scoring guides to provide an overall score ( 15 – 18 ).…”

Section: Methodsmentioning

confidence: 99%

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Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest

Davies

Allan

Carroll

et al. 2023

Front. Cardiovasc. Med.

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BackgroundThe role of multidisciplinary clinics for psychosocial care is increasingly recognized for those living with inherited cardiac conditions (ICC). In Canada, access to healthcare providers differ between clinics. Little is known about the relationship between access to specialty care and a patient's ability to cope with, and manage their condition.MethodsWe leveraged the Hearts in Rhythm Organization (HiRO) to conduct a cross-sectional, community-based survey of individuals with ICC and their family members. We aimed to describe access to services, and explore the relationships between participants’ characteristics, cardiac history and self-reported health status and self-efficacy (GSE: General Self-Efficacy Scale) and empowerment (GCOS-24: Genetic Counseling Outcome Scale).ResultsWe collected 235 responses from Canadian participants in 10 provinces and territories. Overall, 63% of participants reported involvement of a genetic counsellor in their care. Access to genetic testing was associated with greater empowerment [mean GCOS-24: 121.14 (SD = 20.53) vs. 105.68 (SD = 21.69); p = 0.004]. Uncertain genetic test results were associated with lower perceived self-efficacy (mean GSE: uncertain = 28.85 vs. positive = 33.16, negative = 34.13; p = 0.01). Low global mental health scores correlated with both lower perceived self-efficacy and empowerment scores, with only 11% of affected participants reporting involvement of psychology services in their care.ConclusionDifferences in resource accessibility, clinical history and self-reported health status impact the perceived self-efficacy and empowerment of patients with ICC. Future research evaluating interventions to improve patient outcomes is recommended.

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Section: Methodsmentioning

confidence: 99%

“…Expert consensus guidelines for the management of families with ICC have highlighted the importance of multidisciplinary clinics, including access to genetic counsellors and psychology resources, to support families cope with and manage the psychological impacts of ICCs ( 12 – 15 ).…”

Section: Introductionmentioning

confidence: 99%

Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest

Davies

Allan

Carroll

et al. 2023

Front. Cardiovasc. Med.

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“…Given the determination that the variant was of unknown significance, cascade screening of family members was not performed, in line with guidelines. 7 …”

Section: Case Presentationmentioning

confidence: 99%

Beta 2-microglobulin: case report of a rare cause of cardiac amyloidosis

Haslett

Patel

Kittleson

2023

European Heart Journal - Case Reports

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Background Cardiac amyloidosis is caused by the deposition of misfolded proteins in the myocardium. The majority of cases of cardiac amyloidosis are caused by misfolded Transthyretin or Light Chain proteins. In this case report we discuss a case of a rare form of cardiac amyloidosis related to beta 2-microglobulin in a patient not on dialysis. Case Summary A 63-year old man was referred for workup of possible cardiac amyloidosis. Serum and urine immunofixation electrophoresis demonstrated no monoclonal bands and serum kappa/lambda light chain ratio was normal, excluding Light Chain amyloidosis. Bone scintigraphy imaging showed diffuse radiotracer uptake in the myocardium and genetic testing of the Transthyretin gene was negative for variants. This workup was consistent with wild-type Transthyretin cardiac amyloidosis. The patient however later underwent endomyocardial biopsy due to factors inconsistent with this diagnosis including a young age of presentation and a strong family history of cardiac amyloidosis despite no variants in the Transthyretin gene. This showed beta 2-microglobulin type amyloidosis and genetic testing of the beta 2-microglobulin gene showed a heterozygous Pro32Leu (p. P52L) mutation. The patient underwent heart transplantation with normal graft function 2-years post-transplant. Discussion While contemporary advances allow for the noninvasive diagnosis of transthyretin cardiac amyloidosis with positive bone scintigraphy and negative monoclonal protein screen, clinicians should be aware of rarer forms of amyloidosis where endomyocardial biopsy is required to make the diagnosis.

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“…Согласно недавно принятому Консенсусу экспертов Европейской ассоциации сердечного ритма / Общества сердечного ритма / Азиатско-Тихоокеанского общества сердечного ритма / Латиноамериканского общества сердечного ритма [38], клиническое значение и применимость генетического тестирования при ФП, в первую очередь, рассматривается с прогностической позиции, и должно быть направлено на раннее выявление пациентов из группы высокого риска, что может способствовать снижению сердечно-сосудистых осложнений и смертности при использовании адекватных терапевтических стратегий. Критериями приемлемости для генетического тестирования при подозрении на семейную форму ФП являются [2,38]: 1) наличие документированных на ЭКГ признаков ФП; 2) клиническая картина ФП как основное клиническое проявление (фенотип) с ранним началом (до 60 лет); 3) выявление семейного анамнеза, по крайней мере одного больного члена семьи первой или второй степени родства. В частности, генетическое тестирование вариантов SCN5A, KCNQ1, MYL4 и усекающих вариантов TTN может быть выполнено у всех пациентов моложе 60-ти лет с установленным диагнозом семейной ФП на основании изучения истории болезни пациента, семейного анамнеза и характеристики ЭКГ [38].…”

Section: оценка генетического риска фпunclassified

“…Критериями приемлемости для генетического тестирования при подозрении на семейную форму ФП являются [2,38]: 1) наличие документированных на ЭКГ признаков ФП; 2) клиническая картина ФП как основное клиническое проявление (фенотип) с ранним началом (до 60 лет); 3) выявление семейного анамнеза, по крайней мере одного больного члена семьи первой или второй степени родства. В частности, генетическое тестирование вариантов SCN5A, KCNQ1, MYL4 и усекающих вариантов TTN может быть выполнено у всех пациентов моложе 60-ти лет с установленным диагнозом семейной ФП на основании изучения истории болезни пациента, семейного анамнеза и характеристики ЭКГ [38].…”

Section: оценка генетического риска фпunclassified

Familial atrial fibrillation as a polygenic disease with structural cardiac abnormalities: assessment of genetic risk and possibilities for gene therapy

Искендеров

2023

Vestnik aritmologii

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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

Cited by 36 publications

References 508 publications

Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest

Perceived self-efficacy and empowerment in patients at increased risk of sudden cardiac arrest

Beta 2-microglobulin: case report of a rare cause of cardiac amyloidosis

Familial atrial fibrillation as a polygenic disease with structural cardiac abnormalities: assessment of genetic risk and possibilities for gene therapy

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