{"id":"eb8ca2f71eca","type":"article","url":"https://hartvaat.nl/2026/01/21/genetische-test-bij-cardiomyopathie-huidige-britse-criteria-missen-een-op-de-zev/","title":"Genetische test bij cardiomyopathie: huidige Britse criteria missen één op de zeven dragers","title_en":"Genetic testing in cardiomyopathies: do we need to redefine the UK national testing criteria?","category":"algemeen","category_label":"Algemeen","professions":["cardioloog"],"tags":["gedilateerde-cardiomyopathie","hypertrofische-cardiomyopathie","iaso-dcm","immunoadsorptie","laminopathie"],"journal":"Open Heart","doi":"http://openheart.bmj.com/cgi/content/short/13/1/e003838?rss=1","source_url":"https://doi.org/http://openheart.bmj.com/cgi/content/short/13/1/e003838?rss=1","authors":["Madu","A. C.","Dimarco","A. D.","Hardy-Wallace","A.","Ganapathy","A.","Savage","H. O.","Dungu","J. N."],"significance":5,"published":"2026-01-21","source_date":"2026-01-21","image":"","kennis":["https://hartvaat.nl/kennis/cardiometabool/esc-richtlijn-diabetes-cvd-cardiometabool/","https://hartvaat.nl/kennis/ritmestoornissen/arvc-aritmogene-rechterventrikeldysplasie/"],"congress":"","summary_en":"In inherited heart muscle diseases such as dilated (DCM) and hypertrophic cardiomyopathy (HCM), genetic testing can reveal a pathogenic variant, with implications for the patient and relatives. The UK criteria (NGTD) are strict, while the ESC recommends wider testing. In this retrospective analysis (257 patients with DCM or HCM, Essex clinic, 2023-2025), diagnostic yield was 19.9% in DCM and 17.4% in HCM. Of gene-positive patients, 14.8% (DCM) and 14.3% (HCM) did not meet current UK testing criteria — mainly due to age cut-offs. All gene-positive DCM patients falling outside the criteria had myocardial fibrosis. One in seven cardiomyopathy patients with a pathogenic variant would thus be missed under current UK criteria — each with on average four first-degree relatives who would benefit from predictive testing. The authors argue for the wider ESC approach without strict age cut-offs.","created":"2026-07-03T10:32:28Z","updated":"2026-07-03T13:31:25Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"Bij erfelijke hartspierziekten zoals gedilateerde (DCM) en hypertrofische cardiomyopathie (HCM) kan genetisch testen een pathogene variant aantonen, met gevolgen voor de patiënt én familieleden. De Britse criteria (NGTD) zijn strikt, terwijl de ESC een ruimere indicatie aanbeveelt. In deze retrospectieve analyse (257 patiënten met DCM of HCM, Essex-kliniek, 2023-2025) was de diagnostische opbrengst 19,9% bij DCM en 17,4% bij HCM. Van de gen-positieve patiënten voldeed 14,8% (DCM) respectievelijk 14,3% (HCM) niet aan de huidige Britse testcriteria — vooral door de leeftijdsgrenzen. Alle gen-positieve DCM-patiënten die buiten de criteria vielen, hadden myocardfibrose. Eén op de zeven cardiomyopathiepatiënten met een pathogene variant zou dus met de huidige Britse criteria gemist worden — elk met gemiddeld vier eerstegraadsfamilieleden die baat hebben bij voorspellend testen. De auteurs pleiten voor de ruimere ESC-aanpak zonder strikte leeftijdsgrenzen.","abstract_original":"Introduction\n

Inherited cardiac conditions, including dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), may have a monogenic cause identified through genetic testing (GT). Confirmation of pathogenic gene variants can have important implications for the patient and their relatives. The UK National Genomic Test Directory (NGTD) provides strict criteria on the indications for GT; however, the European Society of Cardiology (ESC) recommends wider GT. We reviewed the prevalence of pathogenic genotypes in patients undergoing GT who did not meet the NGTD criteria.

\n\nMethods\n

We conducted a retrospective analysis of patients who underwent GT with a confirmed diagnosis of HCM or DCM attending the Essex Inherited Cardiac Conditions Clinic between January 2023 and January 2025.

\n\nResults\n

257 patients were included in the analysis, with 136 patients with DCM (52.9%) and 121 patients with HCM (47.1%). The diagnostic yield of GT was 19.9% in DCM and 17.4% in HCM.

\n

14.8% of gene-positive patients with DCM and 14.3% of gene-positive patients with HCM did not meet current UK testing criteria, predominantly due to age of onset. All gene-positive patients in the DCM subgroup not meeting current NGTD criteria for testing had evidence of myocardial fibrosis.

\n\nConclusion\n

A significant minority of patients (1 in 7) with cardiomyopathy and a pathogenic genotype did not meet current UK testing criteria; each patient has an average of 4 first-degree relatives at risk who will benefit from predictive GT. We propose the adoption of the wider ESC guidance, removing the strict age-related cut-offs and being guided more by the severity of the phenotype, particularly involving myocardial scarring.

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