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Ventricular Tachycardia in a 24-Year-Old: Searching for Answers
Session:
CASOS CLÍNICOS DE ARRITMOLOGIA
Speaker:
Sofia Nogueira Fernandes
Congress:
CPC 2025
Topic:
C. Arrhythmias and Device Therapy
Theme:
04. Arrhythmias, General
Subtheme:
04.6 Arrhythmias, General – Clinical
Session Type:
Sessão de Casos Clínicos
FP Number:
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Authors:
Sofia Nogueira Fernandes; Mónica Dias; Inês Conde; Filipe Vilela; Carla Ferreira; Jorge Marques; Vítor Hugo Pereira; Sérgia Rocha
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Calibri",sans-serif">Case description:</span></strong></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-family:"Calibri",sans-serif">This is a case of a 24-year-old male admitted for sustained monomorphic ventricular tachycardia (SMVT). The patient had no known cardiovascular risk factors but underwent phenotypic screening for cardiomyopathy at the age of 19, due to a family history of the disease. At the time, his echocardiogram was reported as normal. His paternal uncle had been diagnosed with hypertrophic non-obstructive cardiomyopathy, presented with SMVT, and required an implantable cardioverter-defibrillator (ICD) for secondary prevention. Genetic testing performed on the uncle identified variants of uncertain significance in TPM1 and MYH7. The patient himself had no regular medication use or known allergies. </span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-family:"Calibri",sans-serif">During a football match, the patient experienced sudden palpitations, general malaise, dizziness, and dyspnea. He reported a similar self-limited episode the week prior, also during physical exertion. Upon admission, the patient was hemodynamically stable with no signs of heart failure. Electrocardiogram (ECG) showed wide-complex tachycardia at 224 bpm, with a morphology consistent with SMVT. Pharmacological cardioversion with adenosine and metoprolol was unsuccessful, necessitating electrical cardioversion with 50 joules, which successfully restored sinus rhythm. Post-cardioversion ECG revealed sinus rhythm at 80 bpm, with T-wave inversions in inferior and lateral leads. An initial echocardiogram showed right ventricular (RV) dilation and dysfunction. </span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-family:"Calibri",sans-serif">Further imaging with cardiac magnetic resonance (CMR) confirmed RV dilation with depressed function. The left-sided chambers are of normal dimensions, with systolic function at the lower limit of normal. Non-ischemic fibrosis is observed in the mid-apical lateral and inferior segments. Considering the right ventricular dilation associated with depressed function and segmental abnormalities, these findings supported a diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC), with potential extension to the left ventricle.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-family:"Calibri",sans-serif">The case was discussed with Medical Genetics, and the genetic study of the paternal uncle was reviewed. TPM1 mutation is now classified as likely pathogenic and associated with both hypertrophic and dilated cardiomyopathies. Genetic testing for the patient was initiated, and the results are currently pending.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-family:"Calibri",sans-serif">During hospitalization, the patient remained asymptomatic, with no recurrence of arrhythmic events, on beta-blocker therapy. An ICD was implanted without complications. </span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-family:"Calibri",sans-serif">Conclusion:</span></strong></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><span style="font-family:"Calibri",sans-serif">This case highlights the complexity of diagnosing and managing SMVT in young patients with suspected ACM, emphasizing the critical role of advanced imaging and genetic analysis. </span></span></span></p>
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