RT-244
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Further observations of the
Brugada-Martini syndrome. Familial distribution of the incomplete bundle branch block,
STT. Elevation and sudden death syndrome. A clinical-morphologic and genetic study of nine
families
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Franco Naccarella, Angelo Rolli,
Angelo Carboni, Angelo Finardi, Antonello Zoni, Giovannina Lepera, Gaetano Barbato*,
Massimo Palmieri*, Pietro Ticci**, Luigi Padeletti**, Andrea Nava°, Bortolo Martini°,
Alessandra Rampazzo°°, Gianantonio Danieli°°, Paola Bertaccini^, Rossella Fattori^,
Giampaolo Gavelli^.
Dipartimento di Cardiologia, Azienda Ospedaliera di Parma, *Dipartimento di
Cardiologia, Ospedale Maggiore, Bologna, °Cattedra di Cardiologia, Universita di Padova,
°°Dipartimento di Genetica Medica, Universita di Padova, ^Dipartimento di Radiologia
Medica III e NMR, Universita di Bologna, **Dipartimento di Medicina Interna e Cardiologia,
Universita di Firenze, Italy
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Abstract
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We observed 7 different subjects with SDS, 6 of whom
suffered from VF and cardiac arrest (CA) and 1 had VT, as presenting arrhythmia. We
screened, so far, 5 families in Bologna, 3 families in Florence and 1 family in Parma. We
screened 59 members of the 9 families by ECG, ECHO and NMR was performed in 23 possibly
affected subjects. The typical ECG pattern (ECG PA), with different degree of both
intraventricular conduction delay (ICD) and ST elevation (
DST), was recognized in other members of the considered families, as the occurrence of
sudden death or CA (SD/CA), at least in the seven five considered families from the
available historical data. The number of subjects, showing NMR aspects (NMR AS) compatible
with RVDC, were considered as a fraction of all the NMR exams performed in these subjects.
We confirm that this syndrome shows a familial distribution of the ECG pattern and of the
occurrence of SD and CA. The ECG pattern is variable over time and between families, being
sometimes more evident the ICD and sometimes the ST elevation, or both, implying,
probably, different electrophysiologic and anatomical background. Some of the members of
the first 5 different considered families already show a NMR imaging compatible with RVDC.
So far, even if the genetic screening for RVDC is negative, we can assume that we are
dealing with a polymorphic syndrome, in which localized electrophysiologic and anatomical
alterations are responsible, in different members, for the most serious clinical
consequences such as SD/CA.
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Key Words
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Brugada, Martini-Nava syndromes
sudden death, ventricular fibrillation, family incomplete bundle branch block, right
precordial ST segment elevation, intraventricular delay, right ventricle dysplasia
cardiomyopathy syndrome, magnetic resonance imaging, genetic screening, ICD indication, OA
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