2006 terni, corso di aggiornamento, la displasia aritmogena ventricolare

“ “ Arrythmogenic Right Arrythmogenic Right Ventricular Cardiomyopathy ”Ventricular Cardiomyopathy ”

An Electrophysiologic OverviewStefano Nardi, MD

AZIENDA OSPEDALIERA SANTA MARIA TERNIAZIENDA OSPEDALIERA SANTA MARIA TERNI DIVISIONE DI CARDIOLOGIA DIVISIONE DI CARDIOLOGIA

UNITA’ OPERATIVA DI ARITMOLOGIA CARDIACA UNITA’ OPERATIVA DI ARITMOLOGIA CARDIACA LABORATORIO DI ELETTROFISIOLOGIA ED ELETTROSTIMOLAZIONE LABORATORIO DI ELETTROFISIOLOGIA ED ELETTROSTIMOLAZIONE

Arrhythmogenic Right Ventricular Cardiomyopathy

Sudden Cardiac Death in Children

• Primary electrical diseases– Congenital Long QT Syndrome– WPW with rapid antegrade conduction

• Cardiomyopathies– Hypertrophic– Dilated (idiopathic, post-chemo, etc.)– Arrhythmogenic right ventricular

cardiomyopathy• Structural abnormalities

– Anomalous coronary arteries– Severe aortic stenosis


Background

•“ARVC” proposed in 1977 by Fontaine

•Occurs in teenagers and young adults (>80% diagnosed by age 40)

–Rarely in early childhood •Italian study – ARVC = 20% of postmortem sudden deaths in patients < 35 years old

•Incidence 1:~5,000


Genetics

• Familial pattern in ~50%; Autosomal Dominant

• Variable penetrance• Multiple loci on chromosomes 14, 1, 10

• Requires thorough investigation of family history, suspicious symptoms, other unexplained sudden deaths


Family Tree

43

66

47

22

81

45 48

69

11 12 15JRA

CataractsSyncope

1311

Adopted Lung CA Sudden deathEtiology?

VSDAsthma

Hypothyroid FibromyalgiasBell’s palsy

Hypothyroid

45 51

1468

ARVCHypothyroid

OK OK OK OK

OK

Palps OK

OK

* *

*


Etiology?• Degeneration

– Myocyte death due to inherited metabolic or ultrastructural defect

– “Myocardial dystrophy”• Inflammatory/infectious/myocarditis

– Coxsackie-like RNA found in some cases• Apoptosis

– Programmed cell death• Transdifferentiation

– From myocardial cells to adipose tissue


Presentation

• Variable and non-specific symptoms– Palpitations– Shortness of breath; CHF-like symptoms

– Syncope• Many present with sudden death primarily


Natural history• “Concealed” phase - subtle RV changes;

+/- minor ventricular arrhythmias; rarely SD during competitive athletics

• “Overt electrical disorder” – overt RV structural/functional changes; symptomatic RV arrhythmias

• “Right heart failure” – global RV dysfunction w/ preserved LV function

• “Biventricular pump failure” – signif LV dysfunction


Physical Exam

• May be normal• Extra-systoles• Gallop rhythm, AV valve insufficiency (systolic murmur)


ECG

• Abnormal in 90%, though non-specific • T waves flattened, inverted (esp in V1-V3)

• Right precordial QRS prolongation • Epsilon waves (small amplitude potentials at start of ST segment – “intraventricular myocardial defect”)

• Signal averaging (SAECG)


Ventricular Arrhythmias• May be associated with palps, presyncope,

and syncope• Isolated PVC’s, sustained ventricular

tachycardia, or ventricular fibrillation leading to sudden cardiac arrest

• Usually LBBB (suggesting right sided ectopy), sometimes of multiple morphology

• Not specific for ARVC – rule out congenital heart disease – repaired TOF,

Ebstein anomaly, etc.– Idiopathic RVOT VT


Ventricular Arrhythmias

• Ventricular fibrillation in ARVC– Incidence unclear – Many cases discovered post-mortem– Most likely mechanism of sudden death


Echocardiography

• Hypokinetic, dilated right ventricle– Especially in RV outflow tract

• LV dilation if LV also involved


MRI

• The definitive test?• Requires experienced cardiac imaging specialist

• Can distinguish fat from muscle• Cine MRI helps qualitate free wall function


Cardiac Catheterization

• Right ventricular angiography– Dilated, poorly contractile RV free wall and RV outflow tract

• RV endomyocardial biopsy– Excessive fatty infiltration– Sporadic, typically involves epicardium first (ie. False negative sampling)


Treatment• Main objective is to prevent sudden

death• Primary vs. secondary prevention• Risk stratification

– Young age– Competitive sports– Malignant FHx– Signif RV disease or LV involvement– Syncope, – VT/VF


Treatment

• Restricted activities• Medic Alert bracelet/necklace• Medications

– Amiodarone, sotalol, beta-blockers• Catheter ablation• Implantable cardioverter-defibrillator (ICD)


Implantable Cardioverter Defibrillator

Successful Induction; Self termination



Successful Induction and Defibrillation


Take Home Points

• Rare disorder, but increasing recognized as cause of malignant ventricular arrhythmias

• Sudden death can be initial presentation• Consider in young pts with arrhythmias

or unexplained cardiomyopathy• Management via suppression of

arrhythmias, AICD placement• Families need support!!

2006 terni, corso di aggiornamento, la displasia aritmogena ventricolare

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