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CLEAR FILTERS
Lost Signal: Following the clues
Session:
CASOS CLÍNICOS DE ARRITMOLOGIA
Speaker:
Mónica Dias
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:
---
Authors:
Mónica Dias; Sofia Fernandes; Inês Conde; Rodrigo Silva; Carla Ferreira; Filipe Vilela; Nuno Salomé; Catarina Vieira; Adília Rebelo; Rui Flores
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif">PATIENT PRESENTATION: A 21-year-old boy was admitted to the emergency department after two episodes of syncope. He complained of asthenia in the previous days. At initial evaluation, the patient had bradycardia, and ECG revealed a complete atrioventricular block (AVB), QRS in right bundle branch block pattern. Isoprenaline was started, with improvement in heart rate and clinical stability. Blood analyses showed serum creatinine level of 1.5 mg/dL, slightly increased transaminases and N-terminal pro B-type natriuretic peptide (PBNP) of 11 437 pg/mL. His mother had a pacemaker implanted when she was 21 and died suddenly at the age of 29 years without a formal diagnosis of cardiomyopathy or other systemic disease. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif">INITIAL WORKUP: Echocardiogram showed normal biventricular systolic function and a small pericardial effusion. Considering the young age of the patient, a cardiac magnetic resonance (CMR) was performed, revealing extensive intramural/subepicardial late gadolinium enhancement (LGE) in the basal segments of anterolateral and inferior walls. It also showed bilateral pleural effusion. Therefore, and considering the family history of early sudden death, it was decided to proceed with ICD implantation. Genetic testing later revealed the pathogenic variant c.1216C>T p.(Arg406Trp) in the desmin (DES) gene, in heterozygosity. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif">FOLLOW-UP: The patient remained clinically stable, with normalisation of kidney function and progressive decline of PBNP levels. The last device consultation revealed 99% of ventricular pacing and no ventricular or supraventricular dysrhythmia were reported. Although no skeletal myopathy or neurological symptom were observed, the patient was referred for a neuromuscular disease consultation for follow-up. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Aptos,sans-serif">DISCUSION: This case of a young patient presenting with conduction abnormalities emphasizes the value of performing comprehensive investigation for an underlying cause in those patients in whom degenerative conduction system disease is less likely to be the cause of AVB. In this case, extensive myocardial fibrosis was revealed by CMR, and genetic testing identified a mutation in the DES gene. Mutations in the desmin gene may cause a wide range of myopathy and/or cardiomyopathy and due to the presence of desmin protein in the conduction system, atrioventricular conduction abnormalities are common, as well as ventricular arrhythmias. Among 17 patients previously described with the same mutation as our patient, 15 had some degree of AVB, with 13 of them requiring implantable cardiac devices. In 3 cases, cardiac involvement with AVB was the initial manifestation of the disease, as in this case. Despite the lack of recommendations, we believe that in patients who develop need for implantable cardiac device, the threshold for ICD implantation should be low, especially in the presence of LGE on CMR and family history of early sudden death.</span></span></p>
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