Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Riele, Anneline S.J.M. te; James, Cynthia A.; Groeneweg, Judith A.; Sawant, Abhishek C.; Kammers, Kai; Murray, Brittney; Tichnell, Crystal; Heijden, Jeroen F. van der; Judge, Daniel P.; Dooijes, Dennis; Tintelen, J. Peter van; Hauer, Richard N.W.; Calkins, Hugh; Tandri, Harikrishna

doi:10.1093/eurheartj/ehv387

Cited by 74 publications

(64 citation statements)

References 16 publications

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“…According to the study by Te Riele et al 31,. one-third of first-degree relatives of ARVC probands could develop ARVC, especially siblings.…”

Section: Resultsmentioning

confidence: 99%

“…one-third of first-degree relatives of ARVC probands could develop ARVC, especially siblings. Therefore, the fulfillment of TFC independent of family history is superior to conventional TFC for arrhythmic risk stratification of relatives31. Several studies have reported on the association of family history with the presence of desmosomal gene mutations, but the results remain contradictory.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Zhu

Wang

et al. 2017

Sci Rep

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The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is poorly characterized. Therefore, we performed a meta-analysis to explore the genotype-phenotype relationship in patients with ARVC. Any studies reporting this genotype-phenotype relationship were included. In total, 11 studies involving 1,113 patients were included. The presence of desmosomal gene mutations was associated with a younger onset age of ARVC (32.7 ± 15.2 versus 43.2 ± 13.3 years; P = 0.001), a higher incidence of T wave inversion in V1–3 leads (78.5% versus 51.6%; P = 0.0002) or a family history of ARVC (39.5% versus 27.1%; P = 0.03). There was no difference in the proportion of males between desmosomal-positive and desmosomal-negative patients (68.3% versus 68.9%; P = 0.60). The presence of desmosomal gene mutations was not associated with global or regional structural and functional alterations (63.5% versus 60.5%; P = 0.37), epsilon wave (29.4% versus 26.2%; P = 0.51) or ventricular tachycardia of left bundle-branch morphology (62.6% versus 57.2%; P = 0.30). Overall, patients with desmosomal gene mutations are characterized by an earlier onset age, a higher incidence of T wave inversion in V1–3 leads and a strong family history of ARVC.

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“…According to the study by Te Riele et al 31,. one-third of first-degree relatives of ARVC probands could develop ARVC, especially siblings.…”

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Zhu

Wang

et al. 2017

Sci Rep

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show abstract

“…This finding suggests that lethal ventricular arrhythmias during the ‘concealed phase’ of ARVC, other than expression of a subcellular arrhythmogenic mechanism, may be the result of the low sensitivity of routine clinical tests such as ECG and echocardiography for detection of early/minor arrhythmogenic phenotypic substrates, such as an isolated epicardial scar of the left ventricle, for which detection requires more sophisticated imaging technology such as contrast-enhanced cardiac magnetic resonance. These data were recently confirmed by the study of Te Riele et al showing that in patients with familial ARVC, development of structural abnormalities always preceded the occurrence of ventricular arrhythmias 50 .…”

Section: Discussionmentioning

confidence: 56%

Relationship Between Arrhythmogenic Right Ventricular Cardiomyopathy and Brugada Syndrome

Corrado

Zorzi

Cerrone

et al. 2016

Circ: Arrhythmia and Electrophysiology

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“…Genetic testing can aid early diagnosis of relatives of a clinically affected individual with a disease causing mutation, and may enable early discharge of gene negative relatives from follow-up 293031. Data from qualitative studies suggest testing does not inflict psychological harm and may alleviate uncertainty 3233.…”

Section: How Are Family Members Evaluated?mentioning

confidence: 99%

Inherited cardiomyopathies

Miles

Fanton

Tomé

et al. 2019

BMJ

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Approach to family screening in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Abstract: One-third of first-degree relatives develop manifest ARVD/C. Siblings have highest risk of disease, even after correcting for age and sex. Fulfilment of TFC independent of family history is superior to conventional TFC for arrhythmic risk stratification of relatives.

Cited by 74 publications

References 16 publications

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis

Relationship Between Arrhythmogenic Right Ventricular Cardiomyopathy and Brugada Syndrome

Inherited cardiomyopathies

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