The New Shape of Cardiovascular Care

Recent key publications

Lipid clinics worldwide: harmonization and guidance on how to optimally organize and fund. European Atherosclerosis Society consensus statement across 55 countries and more than 500 lipid clinics. 
Atherosclerosis. 2026 Jul; 418:120757. doi: 10.1016/j.atherosclerosis.2026.120757. Bork C, Nordestgaard BG, Hedegaard BS et al.

 Link to full article:https://pubmed.ncbi.nlm.nih.gov/42178198/

Based on a 2024 survey of more than 500 lipid clinics across 55 countries, this EAS consensus statement proposes a plan to bring lipid clinic standards and funding models into closer alignment worldwide. The rising burden of atherosclerotic cardiovascular disease, together with the European Union’s Safe Hearts plan, makes standardised specialist care for complex lipid disorders a priority. The authors outline a stepwise clinical classification, multidisciplinary staffing models and referral criteria, with recommendations adapted to different country income levels. The statement also addresses gaps in genetic testing, lipoprotein(a) measurement and access to advanced therapies. For policymakers and clinicians alike, this guide provides a practical structure for delivering guideline-based lipid management, with the aim of addressing the growing burden of cardiovascular and metabolic disease.

Annual reporting of key performance indicators and quality assurance metrics will provide health payers with the data needed to justify investment in these needed initiatives

Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry. Eur J Prev Cardiol. 2026 May 14: zwag198. doi: 10.1093/eurjpc/zwag198.; Chora JR, Karungi I, Elshorbagy A et al.

 Link to full article:https://pubmed.ncbi.nlm.nih.gov/42133473/

A survey of 55 countries within the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) found wide variation in how FH genetic testing is carried out. Although next-generation sequencing is an established standard for index cases globally, referral criteria, gene panels and the use of copy-number variant analysis differ considerably between countries. Many still omit testing for the five associated or phenocopy genes altogether. The 2023 revisions to the FH management guidelines underlined the importance of early detection for the timely prevention of cardiovascular complications in this very high-risk population, making this inconsistency difficult to justify. The authors advocate standardisation and recommend a minimum eight-gene panel, comprising three FH-causing genes and five associated or phenocopy genes). This practical step would improve diagnostic accuracy and make results more comparable across centres worldwide.

Clinical utility of polygenic risk scores in cardiovascular disorders. 
Med Genet. 2026 Jul 8;38(3):177-186. doi: 10.1515/medgen-2026-3008; Schunkert H, Li L, Trenkwalder T.

 Link to full article: https://pubmed.ncbi.nlm.nih.gov/42416867/

This review examines the usefulness of polygenic risk scores across cardiovascular disease, from coronary artery disease to cardiomyopathies and aortic aneurysms. The rapid expansion of polygenic risk scores has been driven by analysis of large population registries, including the UK Biobank and the Dutch Lifelines cohort. These repositories integrate clinical, imaging, metabolic and genomic data, allowing researchers to investigate the genetic basis of future cardiovascular disease. Crucially, the clinical utility of polygenic risk scores can be maximized, and their potential to save lives realised, when they are interpreted in the context of routine clinical parameters. Recent GWAS findings have clarified the polygenic basis of these common cardiac conditions. The authors show how PRS can sharpen risk stratification beyond traditional clinical scores, illustrated by the reclassification of intermediate-risk patients through an integrated SCORE2 approach. The discussion also covers newer applications, including how PRS modifies penetrance in carriers of sarcomere variants with hypertrophic cardiomyopathy and its role in hypertension pharmacogenomics. Alongside their potential, the authors address methodological limitations and gaps in current understanding, offering a useful framework for translating polygenic information into practical cardiovascular prevention strategies.

Revisiting the Genetics of Hypertrophic Cardiomyopathy: From Sarcomeres to Polygenic Modulation and Clinical Translation. 
J Clin Med. 2026 Mar 18;15(6):2327. doi: 10.3390/jcm15062327.; Carella MC, Dicorato MM, Basile P et al.

 Link to full article:https://pubmed.ncbi.nlm.nih.gov/41899251/

Hypertrophic cardiomyopathy is a genetically complex condition that extends well beyond the classic monogenic sarcomeric model. MYBPC3 and MYH7 remain the main causal genes, but the authors of this review present how incomplete penetrance, variable expressivity and phenotypic diversity are shaped by variant-class mechanisms, oligogenic inheritance and polygenic background factors. They also assess gene-disease validity, distinguishing well-established sarcomeric genes from uncertain associations, and underline the clinical relevance of deep intronic variants and phenocopies such as Fabry disease and ATTR amyloidosis. With the availability of cardiac myosin inhibitors and other targeted therapies, precise genetic and phenotypic characterisation is becoming crucial. The review offers useful guidance by translating this genetic complexity into everyday clinical practice.

Pharmacogenomics in cardiac therapy: Personalizing treatment for heart health. 
Biomed Pharmacother. 2025 Sep;190:118392. doi: 10.1016/j.biopha.2025.118392. Naderi N, Jolfayi AG, Azimi A et al.

 Link to full article:https://pubmed.ncbi.nlm.nih.gov/40753939/

This review looks at how pharmacogenomics is changing cardiovascular treatment by allowing prescribing decisions to be guided by a patient's genotype. Cardiovascular drugs make up more than 70 per cent of medications with pharmacogenomic evidence behind them, yet routine use of this evidence in clinical practice remains limited. The authors present genetic variants that affect responses to anticoagulants, antiplatelet agents, beta-blockers, statins and antiarrhythmics, including established gene-drug pairs such as CYP2C19 with clopidogrel and SLCO1B1 with statins. Ongoing studies, including the 1200 Patients Project and DOAC REAL, are building the real-world evidence needed to support wider adoption. The review also introduces novel approaches such as polygenic risk scores, multi-omics integration, and point-of-care genotyping, offering clinicians a useful overview of the current status of pharmacogenomic testing and the barriers to its routine use.