{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:49:55Z","timestamp":1753876195105,"version":"3.41.2"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2022,3,17]],"date-time":"2022-03-17T00:00:00Z","timestamp":1647475200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Pathogenic variants in the lamin A\/C gene (LMNA) can lead to a wide range of phenotypes from dilated and arrhythmogenic cardiomyopathies and conduction abnormalities to partial lipodystrophies. This case highlights a coincidental pathogenic LMNA variant identified in a patient with sudden cardiac arrest (SCA). We demonstrate the need for careful interpretation of pathogenic variants identified in cardiomyopathy genes by highlighting a case in which a coincidental pathogenic LMNA variant was found in a patient with premature ventricular complex (PVC)-induced ventricular fibrillation (VF).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>We present the case of a 16-year-old male with SCA secondary to VF. Genetic testing identified a maternally inherited pathogenic variant in LMNA annotated c.1961dup; p.T655Nfs*49. The patient received an implantable cardiac defibrillator and was discharged on nadolol. The patient\u2019s two brothers were also variant-positive. However, the patient and both brothers had normal chamber dimensions on echocardiogram and no late gadolinium enhancement on cardiac magnetic resonance imaging. The family members with the variant were recommended to have prophylactic implantable cardiac defibrillators and thus sought a second opinion. The patient received an appropriate shock and device interrogation identified PVCs. Electrophysiology study identified PVC-induced VF which was ablated with no recurrent ventricular arrhythmias\/implantable cardioverter defibrillator therapies over 8 months of follow-up. Although the variant in LMNA could lead to cardiac arrest, the clinical phenotype was consistent with a non-genetic aetiology. The family members were told to have periodic cardiac evaluation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>This case demonstrates the identification of a coincidental pathogenic variant in a cardiomyopathy gene in a patient with cardiac arrest. Although this variant could lead to cardiomyopathy, it appears the cardiac arrest was not due to the pathogenic variant. This highlights the need to consider the clinical phenotype when interpreting genetic test results for cardiomyopathies even in the presence of a positive genetic test result.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytac115","type":"journal-article","created":{"date-parts":[[2022,3,17]],"date-time":"2022-03-17T22:44:15Z","timestamp":1647557055000},"source":"Crossref","is-referenced-by-count":0,"title":["Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic <i>LMNA<\/i> variant"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5756-7417","authenticated-orcid":false,"given":"Ramin","family":"Garmany","sequence":"first","affiliation":[{"name":"Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic Alix School of Medicine and the Mayo Clinic Medical Scientist Training Program , Rochester, MN 55905, USA"},{"name":"Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic , Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2619-0036","authenticated-orcid":false,"given":"Raquel","family":"Neves","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine\/Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic , Guggenheim 501, 200 First Street SW, Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9491-8140","authenticated-orcid":false,"given":"Fatima","family":"Ali Ahmed","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine\/Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic , Guggenheim 501, 200 First Street SW, Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Tester","sequence":"additional","affiliation":[{"name":"Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic , Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bryan C.","family":"Cannon","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine\/Division of Pediatric Cardiology, Mayo Clinic , Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R.","family":"Giudicessi","sequence":"additional","affiliation":[{"name":"Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic , Rochester, MN 55905, USA"},{"name":"Department of Cardiovascular Medicine\/Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic , Guggenheim 501, 200 First Street SW, Rochester, MN 55905, USA"},{"name":"Department of Pediatric and Adolescent Medicine\/Division of Pediatric Cardiology, Mayo Clinic , Rochester, MN 55905, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8011-3333","authenticated-orcid":false,"given":"Michael J.","family":"Ackerman","sequence":"additional","affiliation":[{"name":"Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic , Rochester, MN 55905, USA"},{"name":"Department of Cardiovascular Medicine\/Division of Heart Rhythm Services, Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic , Guggenheim 501, 200 First Street SW, Rochester, MN 55905, USA"},{"name":"Department of Pediatric and Adolescent Medicine\/Division of Pediatric Cardiology, Mayo Clinic , Rochester, MN 55905, 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