Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'

Translated title of the contribution: Clinical characteristics, family distribution and preliminary genetic data in nine different families with so called 'Brugada's syndrome'

Franco Naccarella, Stefano Sdringola Maranga, Domenico Capone, Mario Coluccini, Mauro Gatti, Angelo Rolli, Angelo Carboni, Angelo Finardi, Giovannina Lepera, Pietro Ticci, Luigi Padeletti

Research output: Contribution to journalArticle

Abstract

Clinical electrocardiographic evaluation and complete non-invasive assessment including nuclear magnetic resonance (NMR) are reported for 7 subjects with cardiac arrest (CA), 6 due to ventricular fibrillation (VF) and 1 to ventricular tachycardia (VT). Two more subjects, one with and one without a family history of non-resuscitated sudden death (NRSD), were included. All 9 subjects showed the typical pattern of the Brugada's syndrome (BS), characterized by incomplete right bundle branch block, ST T elevation in V1 V3. We globally evaluated 64 subjects belonging to the 9 families examined, 5 of whom were identified in Bologna, 3 in Florence and one in Parma. BS is characterized in the experience described in the present paper by a family distribution of the ECG pattern in different members. Furthermore, a family distribution of NRSD, even at a young age, was observed. Electrocardiographic features were consistent with variable degrees and aspects of the intraventricular conduction delay (ICD) and of the ST T elevation pattern. NMR has been performed so far in 23 out of 64 members examined by echo, and was normal in 17/23, with only 6 showing pathological aspects such as mild dilatation of the right ventricle, reduced thickness of the right free wall, isolated dilatation of the right ventricular infundibulum and other minor pathological aspects. Preliminary genetic screening (GS), performed on 20 members of three families, was negative for the typical genetic patterns of right ventricular dysplasia (ARVD). In six families, GS is still ongoing. Genetic screening of sodium channel pathology is in progress in the same families. In conclusion, BS has been documented in the present paper as a hereditary syndrome, both for clinical and ECG aspects, associated with CA due to VF, which required an AICD implantation, at least in symptomatic subjects. There may exist a CONGENITAL form of BS due to pathology of sodium channels, without a demonstrable structural heart disease and an ACQUIRED form of BS secondary to an initial ARVD. From the clinical point of view, a complete evaluation, including serial ECG, pharmacological testing and programmed electrical stimulation of other subjects in the families, may be important in preventing sudden death, mainly in symptomatic subjects who always require an implantable cardioverter defibrillator.

Original languageItalian
Pages (from-to)1488-1498
Number of pages11
JournalGiornale Italiano di Cardiologia
Volume29
Issue number12
Publication statusPublished - Dec 1999

Fingerprint

Brugada Syndrome
Genetic Testing
Sudden Death
Electrocardiography
Sodium Channels
Ventricular Fibrillation
Heart Arrest
Dilatation
Magnetic Resonance Spectroscopy
Pathology
Bundle-Branch Block
Implantable Defibrillators
Pituitary Gland
Ventricular Tachycardia
Electric Stimulation
Heart Ventricles
Heart Diseases
Pharmacology

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Naccarella, F., Maranga, S. S., Capone, D., Coluccini, M., Gatti, M., Rolli, A., ... Padeletti, L. (1999). Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'. Giornale Italiano di Cardiologia, 29(12), 1488-1498.

Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'. / Naccarella, Franco; Maranga, Stefano Sdringola; Capone, Domenico; Coluccini, Mario; Gatti, Mauro; Rolli, Angelo; Carboni, Angelo; Finardi, Angelo; Lepera, Giovannina; Ticci, Pietro; Padeletti, Luigi.

In: Giornale Italiano di Cardiologia, Vol. 29, No. 12, 12.1999, p. 1488-1498.

Research output: Contribution to journalArticle

Naccarella, F, Maranga, SS, Capone, D, Coluccini, M, Gatti, M, Rolli, A, Carboni, A, Finardi, A, Lepera, G, Ticci, P & Padeletti, L 1999, 'Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'', Giornale Italiano di Cardiologia, vol. 29, no. 12, pp. 1488-1498.
Naccarella, Franco ; Maranga, Stefano Sdringola ; Capone, Domenico ; Coluccini, Mario ; Gatti, Mauro ; Rolli, Angelo ; Carboni, Angelo ; Finardi, Angelo ; Lepera, Giovannina ; Ticci, Pietro ; Padeletti, Luigi. / Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'. In: Giornale Italiano di Cardiologia. 1999 ; Vol. 29, No. 12. pp. 1488-1498.
@article{56b3b757401940ffb9747eb08de8ae18,
title = "Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'",
abstract = "Clinical electrocardiographic evaluation and complete non-invasive assessment including nuclear magnetic resonance (NMR) are reported for 7 subjects with cardiac arrest (CA), 6 due to ventricular fibrillation (VF) and 1 to ventricular tachycardia (VT). Two more subjects, one with and one without a family history of non-resuscitated sudden death (NRSD), were included. All 9 subjects showed the typical pattern of the Brugada's syndrome (BS), characterized by incomplete right bundle branch block, ST T elevation in V1 V3. We globally evaluated 64 subjects belonging to the 9 families examined, 5 of whom were identified in Bologna, 3 in Florence and one in Parma. BS is characterized in the experience described in the present paper by a family distribution of the ECG pattern in different members. Furthermore, a family distribution of NRSD, even at a young age, was observed. Electrocardiographic features were consistent with variable degrees and aspects of the intraventricular conduction delay (ICD) and of the ST T elevation pattern. NMR has been performed so far in 23 out of 64 members examined by echo, and was normal in 17/23, with only 6 showing pathological aspects such as mild dilatation of the right ventricle, reduced thickness of the right free wall, isolated dilatation of the right ventricular infundibulum and other minor pathological aspects. Preliminary genetic screening (GS), performed on 20 members of three families, was negative for the typical genetic patterns of right ventricular dysplasia (ARVD). In six families, GS is still ongoing. Genetic screening of sodium channel pathology is in progress in the same families. In conclusion, BS has been documented in the present paper as a hereditary syndrome, both for clinical and ECG aspects, associated with CA due to VF, which required an AICD implantation, at least in symptomatic subjects. There may exist a CONGENITAL form of BS due to pathology of sodium channels, without a demonstrable structural heart disease and an ACQUIRED form of BS secondary to an initial ARVD. From the clinical point of view, a complete evaluation, including serial ECG, pharmacological testing and programmed electrical stimulation of other subjects in the families, may be important in preventing sudden death, mainly in symptomatic subjects who always require an implantable cardioverter defibrillator.",
keywords = "Arrhythmogenic right ventricular dysplasya, Genetics, Sudden cardiac death",
author = "Franco Naccarella and Maranga, {Stefano Sdringola} and Domenico Capone and Mario Coluccini and Mauro Gatti and Angelo Rolli and Angelo Carboni and Angelo Finardi and Giovannina Lepera and Pietro Ticci and Luigi Padeletti",
year = "1999",
month = "12",
language = "Italian",
volume = "29",
pages = "1488--1498",
journal = "Giornale Italiano di Cardiologia",
issn = "0046-5968",
publisher = "Societa Italiana di Cardiologia",
number = "12",

}

TY - JOUR

T1 - Caratteristiche cliniche, distribuzione familiare e preliminari dati genetici in nove diverse famiglie con 'sindrome di Brugada'

AU - Naccarella, Franco

AU - Maranga, Stefano Sdringola

AU - Capone, Domenico

AU - Coluccini, Mario

AU - Gatti, Mauro

AU - Rolli, Angelo

AU - Carboni, Angelo

AU - Finardi, Angelo

AU - Lepera, Giovannina

AU - Ticci, Pietro

AU - Padeletti, Luigi

PY - 1999/12

Y1 - 1999/12

N2 - Clinical electrocardiographic evaluation and complete non-invasive assessment including nuclear magnetic resonance (NMR) are reported for 7 subjects with cardiac arrest (CA), 6 due to ventricular fibrillation (VF) and 1 to ventricular tachycardia (VT). Two more subjects, one with and one without a family history of non-resuscitated sudden death (NRSD), were included. All 9 subjects showed the typical pattern of the Brugada's syndrome (BS), characterized by incomplete right bundle branch block, ST T elevation in V1 V3. We globally evaluated 64 subjects belonging to the 9 families examined, 5 of whom were identified in Bologna, 3 in Florence and one in Parma. BS is characterized in the experience described in the present paper by a family distribution of the ECG pattern in different members. Furthermore, a family distribution of NRSD, even at a young age, was observed. Electrocardiographic features were consistent with variable degrees and aspects of the intraventricular conduction delay (ICD) and of the ST T elevation pattern. NMR has been performed so far in 23 out of 64 members examined by echo, and was normal in 17/23, with only 6 showing pathological aspects such as mild dilatation of the right ventricle, reduced thickness of the right free wall, isolated dilatation of the right ventricular infundibulum and other minor pathological aspects. Preliminary genetic screening (GS), performed on 20 members of three families, was negative for the typical genetic patterns of right ventricular dysplasia (ARVD). In six families, GS is still ongoing. Genetic screening of sodium channel pathology is in progress in the same families. In conclusion, BS has been documented in the present paper as a hereditary syndrome, both for clinical and ECG aspects, associated with CA due to VF, which required an AICD implantation, at least in symptomatic subjects. There may exist a CONGENITAL form of BS due to pathology of sodium channels, without a demonstrable structural heart disease and an ACQUIRED form of BS secondary to an initial ARVD. From the clinical point of view, a complete evaluation, including serial ECG, pharmacological testing and programmed electrical stimulation of other subjects in the families, may be important in preventing sudden death, mainly in symptomatic subjects who always require an implantable cardioverter defibrillator.

AB - Clinical electrocardiographic evaluation and complete non-invasive assessment including nuclear magnetic resonance (NMR) are reported for 7 subjects with cardiac arrest (CA), 6 due to ventricular fibrillation (VF) and 1 to ventricular tachycardia (VT). Two more subjects, one with and one without a family history of non-resuscitated sudden death (NRSD), were included. All 9 subjects showed the typical pattern of the Brugada's syndrome (BS), characterized by incomplete right bundle branch block, ST T elevation in V1 V3. We globally evaluated 64 subjects belonging to the 9 families examined, 5 of whom were identified in Bologna, 3 in Florence and one in Parma. BS is characterized in the experience described in the present paper by a family distribution of the ECG pattern in different members. Furthermore, a family distribution of NRSD, even at a young age, was observed. Electrocardiographic features were consistent with variable degrees and aspects of the intraventricular conduction delay (ICD) and of the ST T elevation pattern. NMR has been performed so far in 23 out of 64 members examined by echo, and was normal in 17/23, with only 6 showing pathological aspects such as mild dilatation of the right ventricle, reduced thickness of the right free wall, isolated dilatation of the right ventricular infundibulum and other minor pathological aspects. Preliminary genetic screening (GS), performed on 20 members of three families, was negative for the typical genetic patterns of right ventricular dysplasia (ARVD). In six families, GS is still ongoing. Genetic screening of sodium channel pathology is in progress in the same families. In conclusion, BS has been documented in the present paper as a hereditary syndrome, both for clinical and ECG aspects, associated with CA due to VF, which required an AICD implantation, at least in symptomatic subjects. There may exist a CONGENITAL form of BS due to pathology of sodium channels, without a demonstrable structural heart disease and an ACQUIRED form of BS secondary to an initial ARVD. From the clinical point of view, a complete evaluation, including serial ECG, pharmacological testing and programmed electrical stimulation of other subjects in the families, may be important in preventing sudden death, mainly in symptomatic subjects who always require an implantable cardioverter defibrillator.

KW - Arrhythmogenic right ventricular dysplasya

KW - Genetics

KW - Sudden cardiac death

UR - http://www.scopus.com/inward/record.url?scp=0033389185&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033389185&partnerID=8YFLogxK

M3 - Articolo

C2 - 10687112

AN - SCOPUS:0033389185

VL - 29

SP - 1488

EP - 1498

JO - Giornale Italiano di Cardiologia

JF - Giornale Italiano di Cardiologia

SN - 0046-5968

IS - 12

ER -