Andrea Nava, Barbara Bauce, Alessandra Rampazzo**, Bortolo Martini***, Michela Muriago, Sergio Cannas***, Cristina Basso* Gaetano Thiene*, Gian Antonio Danieli**.
Departments of Cardiology, *Pathology and **Biology, University of Padua Medical School, Padua, ***Department of Cardiology, Thiene Hospital, Italy
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BACKGROUND. In recent years the Brugada syndrome has been widely
studied and many cases with or without structural heart disease have been reported. In this paper we examined
a family proved to be affected by arrhythmogenic right ventricular cardiomyopathy (ARVC) in which one family
member presents this ECG pattern.
METHODS. A family composed by 30 subjects (16 males, 14 females mean age 37±15 years) was studied. All
patients underwent 12-lead ECG, Holter ECG, stress test, Signal Averaged ECG (SAECG), 2D and Doppler
echocardiography. One patient underwent right catheterization and contrast angiography with endomyocardial
biopsy and electrophysiological study. A genetic analysis was also performed.
RESULTS. Seven patients had clinical signs of the disease. In one affected subject at the onset of the disease the
ECG also changed, showing the typical electrocardiographic pattern of Brugada syndrome with ST segment
elevation in the right precordial leads and right ventricular delay. This ECG aspect enhanced during the text with
flecainide. Positive lod scores were obtained in this family for DNA markers closely linked to the ARVD1 critical
region.
CONCLUSIONS. This is a further evidence that the Brugada syndrome can be associated with a right myocardial
pathology. The disease locus is located in chromosome 14q24.3 (ARVD1), different from the one described by
Brugada et al.
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