2020
DOI: 10.1016/j.jacc.2020.06.037
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Identification of Undetected Monogenic Cardiovascular Disorders

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Cited by 23 publications
(16 citation statements)
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“…A total of 8574 individuals in the Catheterization Genetics (CATHGEN) biorepository 15 had exome sequencing passing quality control measures as previously detailed. 4 Seven hundred seven P/LP variants, variants of uncertain significance (VUS), or novel null/truncating variants in 52 arrhythmia-related genes were identified in 948 individuals (11.1%). Of these, 58 variants were P/LP based on American College of Genetics and Genomics/Association for Molecular Pathology criteria evaluation, residing in 12 genes associated with 5 arrhythmogenic disorders (arrhythmogenic right ventricular cardiomyopathy [ARVC], Brugada syndrome [BrS], hypertrophic cardiomyopathy [HCM], LMNA -related cardiomyopathy, and long QT syndrome [LQTS]) in 79 individuals (Figure 1).…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…A total of 8574 individuals in the Catheterization Genetics (CATHGEN) biorepository 15 had exome sequencing passing quality control measures as previously detailed. 4 Seven hundred seven P/LP variants, variants of uncertain significance (VUS), or novel null/truncating variants in 52 arrhythmia-related genes were identified in 948 individuals (11.1%). Of these, 58 variants were P/LP based on American College of Genetics and Genomics/Association for Molecular Pathology criteria evaluation, residing in 12 genes associated with 5 arrhythmogenic disorders (arrhythmogenic right ventricular cardiomyopathy [ARVC], Brugada syndrome [BrS], hypertrophic cardiomyopathy [HCM], LMNA -related cardiomyopathy, and long QT syndrome [LQTS]) in 79 individuals (Figure 1).…”
Section: Resultsmentioning
confidence: 99%
“…Structured and unstructured EHR-based phenotyping was conducted. Demographic and clinical characteristics at the time of CATHGEN enrollment for all P/LP variant carriers, VUS carriers, and variant-negative individuals (ie, those not carrying P/LP variants in any monogenic cardiovascular disease gene as previously defined 4 Table S1) are presented in Table 1. The median (interquartile range) length of follow-up among all variant carriers and matched noncarriers was 15 (9–25) years and 15 (7–23) years, respectively ( P =0.5).…”
Section: Resultsmentioning
confidence: 99%
“…The mechanistic focus should help to address rare cardiovascular indications, for which the return on investment has often been insufficient motivation to develop a drug from concept to bedside. In aggregate, rare cardiovascular diseases are estimated to affect up to 3% of the population 7 , 8 , making the lack of drug development for this population a major health problem. Rare diseases often have monogenic aetiologies 7 , 8 , for which the clear genetics make them well suited to new computational and experimental drug discovery technologies.…”
Section: Introductionmentioning
confidence: 99%
“…In aggregate, rare cardiovascular diseases are estimated to affect up to 3% of the population 7 , 8 , making the lack of drug development for this population a major health problem. Rare diseases often have monogenic aetiologies 7 , 8 , for which the clear genetics make them well suited to new computational and experimental drug discovery technologies.…”
Section: Introductionmentioning
confidence: 99%
“… 1 Genetic testing and advanced imaging have shown that the prevalence of IC is higher than previously thought (eg, HCM prevalence of 1:200–300 versus 1:500). 2 , 3 , 4 Yet, ICs are still relatively rare and general cardiologists have little experience in diagnosing and managing individuals with these conditions and screening their family members. Consequently, experts and international societies, such as the American Heart Association, have recognized the need for dedicated clinics for IC.…”
mentioning
confidence: 99%