Circulation: Genomic and Precision Medicine最新文献

{"title":"Contribution of Lipoprotein(a) to Polygenic Risk Prediction of Coronary Artery Disease: A Prospective UK Biobank Analysis.","authors":"Hasanga D Manikpurage,&nbsp;Audrey Paulin,&nbsp;Arnaud Girard,&nbsp;Aida Eslami,&nbsp;Patrick Mathieu,&nbsp;Sébastien Thériault,&nbsp;Benoit J Arsenault","doi":"10.1161/CIRCGEN.123.004137","DOIUrl":"10.1161/CIRCGEN.123.004137","url":null,"abstract":"<p><strong>Background: </strong>Lp(a) (lipoprotein[a]) is a highly atherogenic lipoprotein subfraction that may contribute to polygenic risk of coronary artery disease (CAD), but the extent of this contribution is unknown. Our objective was to estimate the contribution of Lp(a) to polygenic risk of CAD and to evaluate the respective contributions of Lp(a) and a CAD polygenic risk score (PRS) to CAD.</p><p><strong>Methods: </strong>A total of 372 385 UK Biobank participants of European ancestry free of CAD at baseline were included. Plasma Lp(a) levels were measured and a CAD-PRS was calculated using the LDpred2 algorithm. Over the median follow-up of 12.6 years, 13 538 participants had incident CAD (myocardial infarction, coronary artery bypass grafting, or coronary angioplasty).</p><p><strong>Results: </strong>The <i>LPA</i> region contribution to the CAD-PRS-mediated CAD risk was modest (7.2% [95% CI, 6.1-8.3]). Lp(a) levels significantly increased the predictive performance of a CAD-PRS including age and sex in Cox regression (C statistic 0.751 versus 0.746, difference, 0.005 [95% CI, 0.004-0.006]). Compared with participants in the bottom CAD-PRS quintile with Lp(a) levels <25 nmol/L (CAD event rate, 1.4%), the hazard ratio for incident CAD in participants in the top CAD-PRS quintile with Lp(a) levels ≥125 nmol/L was 5.45 (95% CI, 4.93-6.03; <i>P</i>=9.35×10^-242, CAD event rate 6.6%).</p><p><strong>Conclusions: </strong>Compared with individuals with a low genetic risk of CAD (low CAD-PRS and low Lp[a] levels), those with a high genetic risk (high CAD-PRS and high Lp[a] levels) had a 5-fold higher CAD risk. These results highlight a substantial contribution of genetic risk factors to CAD and that accurate estimation of genetic risk of CAD may need to consider blood levels of Lp(a).</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41129585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.","authors":"Renee Johnson, Robyn Otway, Ephrem Chin, Claire Horvat, Monique Ohanian, Jon A L Wilcox, Zheng Su, Priscilla Prestes, Andrei Smolnikov, Magdalena Soka, Guanglan Guo, Emma Rath, Samya Chakravorty, Lukasz Chrzanowski, Christopher S Hayward, Anne M Keogh, Peter S Macdonald, Eleni Giannoulatou, Alex C Y Chang, Emily C Oates, Fadi Charchar, Jonathan G Seidman, Christine E Seidman, Madhuri Hegde, Diane Fatkin","doi":"10.1161/CIRCGEN.123.004221","DOIUrl":"10.1161/CIRCGEN.123.004221","url":null,"abstract":"<p><strong>Background: </strong>Variants in the <i>DMD</i> gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart failure, heart transplantation, and ventricular arrhythmias. Improved early detection of individuals at risk is needed.</p><p><strong>Methods: </strong>Genetic testing of 40 male probands with a potential X-linked genetic cause of primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, and array comparative genomic hybridization. Variant location was assessed with respect to dystrophin isoform patterns and exon usage. Telomere length was evaluated as a marker of myocardial dysfunction in left ventricular tissue and blood.</p><p><strong>Results: </strong>Four pathogenic/likely pathogenic <i>DMD</i> variants were found in 5 probands (5/40: 12.5%). Only one rare variant was identified by gene panel testing with 3 additional multi-exon deletion/duplications found following targeted assays for structural variants. All of the pathogenic/likely pathogenic <i>DMD</i> variants involved dystrophin exons that had percent spliced-in scores >90, indicating high levels of constitutive expression in the human adult heart. Fifteen <i>DMD</i> variant-negative probands (15/40: 37.5%) had variants in autosomal genes including <i>TTN</i>, <i>BAG3</i>, <i>LMNA</i>, and <i>RBM20</i>. Myocardial telomere length was reduced in patients with DCM irrespective of genotype. No differences in blood telomere length were observed between genotype-positive family members with/without DCM and controls.</p><p><strong>Conclusions: </strong>Primary genetic testing using multi-gene panels has a low yield and specific assays for structural variants are required if <i>DMD</i>-associated cardiomyopathy is suspected. Distinguishing X-linked causes of DCM from autosomal genes that show sex differences in clinical presentation is crucial for informed family management.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10592075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10577696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Burden of <i>TNNI3K</i> in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.","authors":"Caroline Pham,&nbsp;Karolina Andrzejczyk,&nbsp;Sean J Jurgens,&nbsp;Ronald Lekanne Deprez,&nbsp;Kaylin C A Palm,&nbsp;Alexa M C Vermeer,&nbsp;Janneke Nijman,&nbsp;Imke Christiaans,&nbsp;Pascal F H M van Dessel,&nbsp;Leander Beekman,&nbsp;Seung Hoan Choi,&nbsp;Steven A Lubitz,&nbsp;Doris Skoric-Milosavljevic,&nbsp;Lisa van den Bersselaar,&nbsp;Philip R Jansen,&nbsp;Jaël S Copier,&nbsp;Patrick T Ellinor,&nbsp;Arthur A M Wilde,&nbsp;Connie R Bezzina,&nbsp;Elisabeth M Lodder","doi":"10.1161/CIRCGEN.122.003975","DOIUrl":"https://doi.org/10.1161/CIRCGEN.122.003975","url":null,"abstract":"<p><strong>Background: </strong>Genetic variants in <i>TNNI3K</i> (troponin-I interacting kinase) have previously been associated with dilated cardiomyopathy (DCM), cardiac conduction disease, and supraventricular tachycardias. However, the link between <i>TNNI3K</i> variants and these cardiac phenotypes shows a lack of consensus concerning phenotype and protein function.</p><p><strong>Methods: </strong>We describe a systematic retrospective study of a cohort of patients undergoing genetic testing for cardiac arrhythmias and cardiomyopathy including <i>TNNI3K</i>. We further performed burden testing of <i>TNNI3K</i> in the UK Biobank. For 2 novel <i>TNNI3K</i> variants, we tested cosegregation. TNNI3K kinase function was estimated by TNNI3K autophosphorylation assays.</p><p><strong>Results: </strong>We demonstrate enrichment of rare coding <i>TNNI3K</i> variants in DCM patients in the Amsterdam cohort. In the UK Biobank, we observed an association between <i>TNNI3K</i> missense (but not loss-of-function) variants and DCM and atrial fibrillation. Furthermore, we demonstrate genetic segregation for 2 rare variants, TNNI3K-p.Ile512Thr and TNNI3K-p.His592Tyr, with phenotypes consisting of DCM, cardiac conduction disease, and supraventricular tachycardia, together with increased autophosphorylation. In contrast, TNNI3K-p.Arg556_Asn590del, a likely benign variant, demonstrated depleted autophosphorylation.</p><p><strong>Conclusions: </strong>Our findings demonstrate an increased burden of rare coding <i>TNNI3K</i> variants in cardiac patients with DCM. Furthermore, we present 2 novel likely pathogenic <i>TNNI3K</i> variants with increased autophosphorylation, suggesting that enhanced autophosphorylation is likely to drive pathogenicity.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10426786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10043515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study.","authors":"Lauri Holmstrom, Ninad S Chaudhary, Kotoka Nakamura, Harpriya Chugh, Audrey Uy-Evanado, Faye Norby, Ginger A Metcalf, Vipin K Menon, Bing Yu, Eric Boerwinkle, Sumeet S Chugh, Zeynep Akdemir, Evan P Kransdorf","doi":"10.1161/CIRCGEN.123.004105","DOIUrl":"10.1161/CIRCGEN.123.004105","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10041431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.","authors":"Ryan J Kramer, Amir Nima Fatahian, Alice Chan, Jeffery Mortenson, Jennifer Osher, Bo Sun, Lauren E Parker, Michael B Rosamilia, Kyra B Potter, Kaila Moore, Sage L Atkins, Jill A Rosenfeld, Alona Birjiniuk, Edward Jones, Taylor S Howard, Jeffrey J Kim, Daryl A Scott, Seema Lalani, Omid M T Rouzbehani, Samantha Kaplan, Marissa A Hathaway, Jennifer L Cohen, S Yukiko Asaki, Hugo R Martinez, Sihem Boudina, Andrew P Landstrom","doi":"10.1161/CIRCGEN.122.003912","DOIUrl":"10.1161/CIRCGEN.122.003912","url":null,"abstract":"<p><strong>Background: </strong>1p36 deletion syndrome can predispose to pediatric-onset cardiomyopathy. Deletion breakpoints are variable and may delete the transcription factor <i>PRDM16</i>. Early studies suggest that deletion of <i>PRDM16</i> may underlie cardiomyopathy in patients with 1p36 deletion; however, the prognostic impact of <i>PRDM16</i> loss is unknown.</p><p><strong>Methods: </strong>This retrospective cohort included subjects with 1p36 deletion syndrome from 4 hospitals. Prevalence of cardiomyopathy and freedom from death, cardiac transplantation, or ventricular assist device were analyzed. A systematic review cohort was derived for further analysis. A cardiac-specific <i>Prdm16</i> knockout mouse (<i>Prdm16</i> conditional knockout) was generated. Echocardiography was performed at 4 and 6 to 7 months. Histology staining and qPCR were performed at 7 months to assess fibrosis.</p><p><strong>Results: </strong>The retrospective cohort included 71 patients. Among individuals with <i>PRDM16</i> deleted, 34.5% developed cardiomyopathy versus 7.7% of individuals with <i>PRDM16</i> not deleted (<i>P</i>=0.1). In the combined retrospective and systematic review cohort (n=134), <i>PRDM16</i> deletion-associated cardiomyopathy risk was recapitulated and significant (29.1% versus 10.8%, <i>P</i>=0.03). <i>PRDM16</i> deletion was associated with increased risk of death, cardiac transplant, or ventricular assist device (<i>P</i>=0.04). Among those <i>PRDM16</i> deleted, 34.5% of females developed cardiomyopathy versus 16.7% of their male counterparts (<i>P</i>=0.2). We find sex-specific differences in the incidence and the severity of contractile dysfunction and fibrosis in female <i>Prdm16</i> conditional knockout mice. Further, female <i>Prdm16</i> conditional knockout mice demonstrate significantly elevated risk of mortality (<i>P</i>=0.0003).</p><p><strong>Conclusions: </strong><i>PRDM16</i> deletion is associated with a significantly increased risk of cardiomyopathy and cardiac mortality. <i>Prdm16</i> conditional knockout mice develop cardiomyopathy in a sex-biased way. Patients with <i>PRDM16</i> deletion should be assessed for cardiac disease.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10047229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations.","authors":"Ingegerd Östman-Smith","doi":"10.1161/CIRCGEN.123.004206","DOIUrl":"https://doi.org/10.1161/CIRCGEN.123.004206","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10044788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Network Preservation Analysis Reveals Dysregulated Metabolic Pathways in Human Vascular Smooth Muscle Cell Phenotypic Switching.","authors":"R Noah Perry,&nbsp;Diana Albarracin,&nbsp;Redouane Aherrahrou,&nbsp;Mete Civelek","doi":"10.1161/CIRCGEN.122.003781","DOIUrl":"10.1161/CIRCGEN.122.003781","url":null,"abstract":"<p><strong>Background: </strong>Vascular smooth muscle cells are key players involved in atherosclerosis, the underlying cause of coronary artery disease. They can play either beneficial or detrimental roles in lesion pathogenesis, depending on the nature of their phenotypic changes. An in-depth characterization of their gene regulatory networks can help better understand how their dysfunction may impact disease progression.</p><p><strong>Methods: </strong>We conducted a gene expression network preservation analysis in aortic smooth muscle cells isolated from 151 multiethnic heart transplant donors cultured under quiescent or proliferative conditions.</p><p><strong>Results: </strong>We identified 86 groups of coexpressed genes (modules) across the 2 conditions and focused on the 18 modules that are least preserved between the phenotypic conditions. Three of these modules were significantly enriched for genes belonging to proliferation, migration, cell adhesion, and cell differentiation pathways, characteristic of phenotypically modulated proliferative vascular smooth muscle cells. The majority of the modules, however, were enriched for metabolic pathways consisting of both nitrogen-related and glycolysis-related processes. Therefore, we explored correlations between nitrogen metabolism-related genes and coronary artery disease-associated genes and found significant correlations, suggesting the involvement of the nitrogen metabolism pathway in coronary artery disease pathogenesis. We also created gene regulatory networks enriched for genes in glycolysis and predicted key regulatory genes driving glycolysis dysregulation.</p><p><strong>Conclusions: </strong>Our work suggests that dysregulation of vascular smooth muscle cell metabolism participates in phenotypic transitioning, which may contribute to disease progression, and suggests that AMT (aminomethyltransferase) and MPI (mannose phosphate isomerase) may play an important role in regulating nitrogen and glycolysis-related metabolism in smooth muscle cells.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3a/27/hcg-16-372.PMC10434832.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10419243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In Memoriam: Prof. Dr. Jeanette Erdmann (1965-2023).","authors":"Heribert Schunkert,&nbsp;Zouhair Aherrahrou","doi":"10.1161/CIRCGEN.123.004315","DOIUrl":"https://doi.org/10.1161/CIRCGEN.123.004315","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10386689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.","authors":"Emanuele Monda, Aaron Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan Beattie, Marco Tartaglia, Maria Giovanna Russo, Steven D Colan, Giulio Calcagni, Bruce D Gelb, Juan Pablo Kaski, Amy E Roberts, Giuseppe Limongelli","doi":"10.1161/CIRCGEN.122.003861","DOIUrl":"10.1161/CIRCGEN.122.003861","url":null,"abstract":"<p><strong>Background: </strong>We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.</p><p><strong>Methods: </strong>A retrospective, longitudinal multicenter cohort of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy between 2002 and 2019 was assembled. We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in ≥15% of the maximal left ventricular wall thickness (MLVWT), both in mm and <i>z</i>-score (progression); (2) a reduction ≥15% of the MLVWT, both in mm and <i>z</i>-score (absolute regression); (3) a reduction ≥15% of the MLVWT <i>z</i>-score with a stable MLVWT in mm (relative regression). The primary study end point was a composite of cardiovascular death, heart transplantation, and appropriate implantable cardioverter defibrillator-shock.</p><p><strong>Results: </strong>The cohort comprised 42 patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy, with a median age at diagnosis of 3.5 (interquartile range, 0.2-12.3) years. Freedom from primary end point was 92.7% (95% CI, 84.7%-100%) 1 year after presentation and 80.9% (95% CI, 70.1%-90.7%) at 5 years. Patients with MLVWT <i>z</i>-score >13.7 showed reduced survival compared with those with <13.7. During a median follow-up of 3.7 years (interquartile range, 2.6-7.9), absolute regression was the most common type of left ventricular remodeling (n=9, 31%), followed by progression (n=6, 21%), and relative regression (n=6, 21%).</p><p><strong>Conclusions: </strong>These findings provide insights into the natural history of left ventricular hypertrophy, and can help inform clinicians regarding risk stratification and clinical outcomes in patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10034467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined Clinical, Molecular, and Muscle Biopsy Approach to Unveil Prevalence and Clinical Features of Rare Neuromuscular and Mitochondrial Diseases in Patients With Cardiomyopathies.","authors":"Michele Lioncino,&nbsp;Emanuele Monda,&nbsp;Martina Caiazza,&nbsp;Vincenzo Simonelli,&nbsp;Claudia Nesti,&nbsp;Alfredo Mauriello,&nbsp;Alberta Budillon,&nbsp;Alessandro Di Santo,&nbsp;Giorgia Bruno,&nbsp;Antonio Varone,&nbsp;Vincenzo Nigro,&nbsp;Filippo Maria Santorelli,&nbsp;Giuseppe Pacileo,&nbsp;Maria Giovanna Russo,&nbsp;Giulia Frisso,&nbsp;Simone Sampaolo,&nbsp;Giuseppe Limongelli","doi":"10.1161/CIRCGEN.123.004122","DOIUrl":"https://doi.org/10.1161/CIRCGEN.123.004122","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10041428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}