Abstract | Background: Case summary: 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's 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. Discussion: 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.
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Authors | Ramin Garmany, Raquel Neves, Fatima Ali Ahmed, David J Tester, Bryan C Cannon, John R Giudicessi, Michael J Ackerman |
Journal | European heart journal. Case reports
(Eur Heart J Case Rep)
Vol. 6
Issue 5
Pg. ytac115
(May 2022)
ISSN: 2514-2119 [Electronic] England |
PMID | 35528128
(Publication Type: Case Reports)
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Copyright | © The Author(s) 2022. Published by Oxford University Press on behalf of European Society of Cardiology. |