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Mazzotti, Elisa (2009) Nuove acquisizioni sulla storia naturale della cardiomiopatia aritmogena del ventricolo destro attraverso lo studio di soggetti in etĂ  pediatrica portatori di mutazioni nei geni-malattia. [Tesi di dottorato]

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Abstract (inglese)

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease characterized by myocardial atrophy and fibrofatty replacement, mainly involving he right ventricle (RV). However also the left ventricle (LV) can be involved in a significant number of cases. The pathologic substrate constitutes the anatomic basis both for re-entry phenomena, that can lead to onset of ventricular arrhythmias, and for morphological alterations of the RV. The clinical manifestations of disease usually appear between 10 and 20 years of age. ARVC/D has been proved to have a genetic origin with autosomic dominant transmission in the majority of cases. Moreover, several disease-genes have been identified so far. Genetic screening enables to identify subjects carrying a gene mutation and thus to early identify patients at risk of develop the disease. In these subjects, including children, a clinical follow-up (FU) is necessary to detect promptly the clinical onset of disease.
AIM OF THE STUDY: we analysed a series of subjects carrying an ARVC-gene mutation evaluated for the first time at a young age (< 18 yrs), with the purpose to describe the clinical phenotype and the natural history of the disease.
METHODS: a total of 62 subjects (38 males, 24 famales, mean age at first evaluation 12.4?3.9 years) examined for the first time below the age of 18 and in whom a mutation of a know-ARVC gene has been detected were analysed. Thirtheen subjects (21%) were probands and 49 (79%) were family-members. This population was divided into 3 groups according to the age at the first evaluation: 1] 1-10 years old; 2] 11-14 years old; 3] 15-18 years old. The study protocol included 12-lead ECG, signal-averaged ECG (SAECG), 24-hour Holter monitoring and 2D-echocardiogram with Doppler analysis
After first clinical evaluation subjects were divided in “affected”, “not-affected” and “border-line”, then they entered in a annual or 6 months FU program. a Cardiac magnetic resonance (CMR) with contrast agent gadolinium was performed in border-line patients and in non-affected subjects older than 14 years.
RESULTS: At first evaluation none subjects belonging to group A fulfilled the diagnostic criteria, that were reached in 8 pts (40%) of group B and in 7 pts (30,5%) of group C. During FU, lasting 8.8+6.7 yrs, 7 subjects previously considered unaffected were diagnosed with the disease (12,9%, mean age at diagnosis 19.5+5.3 anni) and 10 pts already affected showed a progression of cardiomyopathy. Moreover, among the 12 subjects who did not fulfilled the diagnostic criteria who underwent CMR, 6 (50%, mean age 15.5+5.6 yrs, range 9-22 yrs) were diagnosed with an ARVC/D form .
CONCLUSION: Our data confirm that ARVC/D is not present at birth and is characterized by clinical onset during adolescence and young adulthood. A significant number of subjects carrying a genetic mutation does not fulfill the diagnostic criteria and in this group CMR with gadolinium injection is a fundamental diagnostic tool.

Abstract (italiano)

INTRODUZIONE: La cardiomiopatia aritmogena del ventricolo destro (ARVC) è una malattia primitiva del muscolo cardiaco dovuta ad una necrosi miocitaria con successiva sostituzione fibro-adiposa. Tale sostituzione, dal punto di vista clinico, si traduce in instabilità elettrica e in alterazioni morfologiche in particolare a carico del ventricolo destro (VD), anche se il ventricolo sinistro può essere coinvolto in un numero significativo di casi. L’ARVC si manifesta clinicamente fra la seconda e la terza decade di vita con la presenza soprattutto di aritmie ventricolari che possono portare anche a morte improvvisa. La malattia riconosce un’origine genetica, con modalità di trasmissione autosomica dominante nella maggior parte dei casi, con un substrato genetico alquanto eterogeneo dato che sono stati fino ad ora identificati numerosi geni correlati alla malattia. Lo screening genetico permette attualmente l’identificazione dei soggetti portatori di una mutazione ritenuta causativa all’interno delle famiglie affette. Questo comporta l’identificazione precoce, anche in età pediatrica, di soggetti potenzialmente a rischio di sviluppare la malattia, nei quali è necessario eseguire uno stretto follow-up (FU) clinico-strumentale, al fine di rintracciare tempestivamente l’eventuale comparsa di segni fenotipici di malattia.
OBIETTIVI: Scopo dello studio è la valutazione clinico-strumentale di una serie di soggetti portatori di mutazioni causative legate all’ARVC giunti alla nostra osservazione ad un’età inferiore a 18 anni e seguiti in un programma di FU, allo scopo di descrivere gli aspetti clinici precoci della malattia.
MATERIALI E METODI: Sono stati studiati 62 soggetti (38 maschi, 24 femmine, età media alla prima osservazione 12.4?3.9 anni) nei quali era stata identificata una mutazione causativa di un gene-malattia legato all’ARVC. Di questi 13 (21%) erano probandi e 49 (79%) familiari di soggetti affetti. I soggetti sono stati divisi in 3 gruppi in base all’età alla prima osservazione: 1] 1-10 anni; 2] 11-14 anni; 3] 15-18 anni. Il protocollo di studio comprendeva: visita cardiologia, ECG a 12 derivazioni, signal-averaged ECG, ECG-Holter delle 24 ore ed Ecocardiogramma mono e bidimensionale con analisi Color-Doppler.
In base ai risultati degli esami strumentali i soggetti, dopo la prima visita, venivano suddivisi in: affetti, non affetti, soggetti con alcuni segni clinici di malattia ma che non soddisfacevano i criteri di diagnosi; venivano inseriti, quindi, in un programma di FU con intervalli variabili dai 6 ai 12 mesi. Il protocollo di studio, a questo punto, prevedeva l’esecuzione di risonanza magnetica cardiaca (RMC) con gadolinio nei soggetti senza controindicazioni all’esame, che avessero età ?14 anni o diagnosi dubbia.
RISULTATI: Dei 19 soggetti esaminati prima dei 10 anni nessuno era risultato affetto alla prima visita. Fra i 20 pazienti del secondo gruppo, in 8 (40%) è stata fatta diagnosi di ARVC. Dei 23 soggetti appartenenti al terzo gruppo, in 7 (30.5%) erano presenti criteri sufficienti per la diagnosi di ARVC. Durante il FU altri 8 soggetti (12.9%, età media 19.5+5.3 anni, FU medio 8.8+6.7 anni) hanno mostrato la comparsa della malattia e 11 soggetti con diagnosi alla prima visita hanno mostrato un’evoluzione della patologia. Infine 12 soggetti che non raggiungevano i criteri di diagnosi sono stati sottoposti a RMC, che in 6 (50%, età media 15.5+5.6 anni, range 9-22 anni) ha rivelato la presenza di alterazioni compatibili con la malattia.
CONCLUSIONI: La ARVC si conferma come malattia non presente alla nascita e con esordio clinico nell’adolescenza e prima giovinezza. Già in età adolescenziale, comunque, si possono rilevare forme importanti ed estese e casi di forte instabilità elettrica, per cui la diagnosi precoce è fondamentale.
Numerosi soggetti con mutazione genetica non soddisfano i criteri di diagnosi ed in questa particolare popolazione la RMC con gadolinio è un mezzo diagnostico efficace per aggiungere informazioni morfo-funzionali e di caratterizzazione tissutale.

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Tipo di EPrint:Tesi di dottorato
Relatore:Nava, Andrea
Dottorato (corsi e scuole):Ciclo 21 > Scuole per il 21simo ciclo > SCIENZE MEDICHE, CLINICHE E SPERIMENTALI > SCIENZE CARDIOVASCOLARI
Data di deposito della tesi:02 Febbraio 2009
Anno di Pubblicazione:30 Gennaio 2009
Parole chiave (italiano / inglese):Cardiomiopatia aritmogena del ventricolo destro, etĂ  pediatrica, diagnosi precoce, storia naturale, geni-malattia
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/11 Malattie dell'apparato cardiovascolare
Struttura di riferimento:Dipartimenti > pre 2012 - Dipartimento di Scienze Medico Diagnostiche e Terapie Speciali
Codice ID:1924
Depositato il:02 Feb 2009
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