A Case of Arrhythmogenic Right Ventricular Dysplasia - ARVD

INTERESTING CASE OF DYSPNOEA

DR K.M.JEYABALAJI

PROF DR. P.VIJAYARAGHAVAN’S UNIT

HISTORY

A 38 YEAR OLD MALE PATIENT CAME WITH COMPLAINTS OF

PALPITATION

DYSPNOEA GRADE 3

BILATERAL LEG SWELLING

COUGH WITH EXPECTORATION

FOR PAST 10 DAYS

H/O PRESENTING ILLNESSPATIENT WAS APPARENTLY NORMAL 10 DAYS BACK

H/O BILATERAL LEG SWELLING -10 DAYS

H//O DIFF. IN BREATHING – 10 DAYS

H/O COUGH WITH SCANTY SPUTUM – 10 DAYS

NO H/O HEMOPTYSIS

NO H/O FEVER

NO H/O CHEST PAIN

PAST HISTORY:

KNOWN CASE OF OLD PT TREATED 5 YEARS BACK

NOT A KNOWN DM,SHT,ASTHMATIC, CAD

PERSONAL HISTORY:

SMOKER

NON ALCOHOLIC

FAMILY HISTORY:

HIS ELDER BROTHER DIED IN 30 YEARS DUE TO SUDDEN CARDIAC ARREST

EXAMINATION

Patient is

Concious

Oriented

Afebrile

Anaemic

No icterus, clubbing, cyanosis

Bilateral pitting pedal edema present

VITALS

Pulse- 86/min

BP- 110/80 mmHg

JVP- elevated – 12cm

EXAMINATIONCVS- s1,s2 +, mufflled

Apical impulse 6th intercostal space 1 inch lateral to mid clavicular line..

Hyperdynamic

Pan systolic murmur heard over tricuspid area

RS – trachea shifted to left, NVBS

P/A – soft, congestive hepatomegaly extending 2cm below Rt subcostal margin.

X ray

ECG

ECGRATE 120

AXIS – INDETERMINATE

RAE

T INVERSION IN V1-V6

POOR R WAVE PROGRESSION FROM V1-V6

QRS DURATION – 0.10 SEC.

VPC +

ECHO

CARDIAC MRI

4 CHAMBER VIEW

DIAGNOSIS

ARVD WITH RIGHT HEART FAILURE

SEVERE TRICUSPID REGURGITATION

OLD PULMONARY TUBERCULOSIS RT UL FIBROSIS

DISCUSSION

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA/CARDIOMYOPATHY (ARVD/C), FIRST DESCRIBED IN 1977 BY FONTAINE AND COWORKERS, IS A GENETIC FORM OF CARDIOMYOPATHY CHARACTERIZED PROTOTYPICALLY BY FIBROFATTY INFILTRATION OF THE RIGHT VENTRICLE

PREVALENCEARVD/C accounts for 20 percent of cases of sudden cardiac death.

 The prevalence of ARVC in the general adult population is estimated to be approximately 1 in 2000 to 1 in 5000

 Presentation is most common between the ages of 10 and 50 years, with a mean age at diagnosis of approximately 30 years

France - forensic autopsies on 1930 cases of unexplained SCD (mean age 34 years, males and females equally represented), 200 (10.4 percent) were associated with ARVC.

In a report from northern Italy evaluating the causes of SCD among 269 subjects under 35 years of age, ARVC accounted for 22 percent of deaths among the 49 athletes and 8 percent among the 220 non-athletes

DOMINANCE

Biventricular – Parallel involvement of both ventricles (112 patients (56 percent)

Classic – This pattern is defined by isolated RV disease or LV involvement in association with significant RV impairment (78 patients [39 percent]

Left dominant – Characterized by early and prominent LV manifestations and relatively mild right-sided disease (10 patients [5 percent])

GENETICS

SEVERAL GENES AND GENE LOCI ARE ASSOCIATED WITH ARVD/C, AND BOTH AUTOSOMAL DOMINANT AND RECESSIVE MODES OF INHERITANCE ARE DESCRIBED. IMPLICATED GENES INCLUDE

DESMOPLAKIN

JUNCTIONAL PLAKOGLOBIN (JUP)

THE CARDIAC RYANODINE RECEPTOR PLAKOPHILIN-2 (PKP2)

TRANSFORMING GROWTH FACTOR-B3.

NAXOS SYNDROME

AR ARVD – JUNCTIONAL PHAKOGLOBULIN MUTATION

CARDIOCUTANEOUS SYNDROME

ARVD

WOOLY HAIR

HYPERKERATOSIS OF PALMS AND SOLES

SYMPTOMS

Palpitations – 67 percent

Syncope – 32 percent

Atypical chest pain – 27 percent

Dyspnea – 11 percent

RV failure – 6 percent

The most common ventricular arrhythmia is sustained or nonsustained monomorphic VT that originates in the RV and therefore has a left bundle branch block (LBBB) pattern

The diagnosis of ARVD is confirmed if the patient has these characteristics:

Abnormal function of the right ventricle (RV)

Fatty or fibrous-fatty infiltrates of the right ventricle heart muscle (myocardium)

Abnormal ECG

Arrhythmias (supraventricular tachycardia, ventricular tachycardia or ventricular fibrillation, especially with exercise)

Family history of ARVD

ECG TASK FORCE CRITERIA

QRS prolongation, particularly in lead V1 versus V6 – This prolongation is consistent with delayed right ventricular activation.

Incomplete or complete right bundle branch block

Prolonged S wave upstroke (interval from the nadir of the S wave to the isoelectric baseline ≥55 msec) – (90-95%)

Epsilon wave – v1 (30%)

Inversion of T waves in the right precordial leads (V1, V2, and V3) 

Ventricular ectopics in excess of 1000 per day.

ECG

ECHO

Right ventricular dilation.

Bulging of right ventricle during diastole.

Dyskinesia of inferobasal free wall during systole.

Dyskinesia of the apex.

Exaggerated trabecular pattern within right ventricle.

Structural abnormalities of the moderator band

MANAGEMENT ANTIARRYTHMIC DRUGS

BETA BLOCKERS, AMIODARONE, FLECAINIDE, PROPAFENONE.

RADIOFREQUENCY CATHETER ABLATION

ICD

ANTI FAILURE MANAGEMENT

ACE

BETA BLOCKER

DIURETICS

DIGOXIN

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