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Arrhythmogenic Right Venticular Dysplasia – A Rare case report from tribal zone of Central India
- Dr. Prakash Khunte, Dr. P. Beck, Dr. K. Yadav
Arrhythmogenic right ventricular dysplasia (ARVD) is under diagnosed cardiomyopathy which commonly presents in young adults with ventricular tachycardia or sudden death. It is characterized pathologically by progressive fibrofatty replacement of the myocardium, primarily of the right ventricular free wall. Clinically, it presents with life-threatening malignant ventricular arrhythmias which may lead to sudden death, most often in young people and athletes. ARVD/C is difficult to diagnose, although standardized diagnostic criteria have been proposed, based on the presence of major and minor criteria encompassing electrocardiographic, arrhythmic, morphofunctional, histopathologic, and genetic factors.
A 30 year male patient named Heeralal Diwakar R/o Baloda Bazar (C.G.) was admitted in department of Medicine, Intensive cardiac Coronary Unit at Pt. J. N. M. Medical College & Dr .B.R.A.M. Hospital Raipur with the complain of palpitation ,dizziness, dyspnoea on exertion and left sided chest pain, cough with expectorant & distension of abdomen since 8 days.patient having severe palpitation and dizziness in recent hours.
Patients having similar complain and admitted two time in hospital in last two year and patient had episode of PSVT and had given DC shock and patient on aspirin,amidaron,metoprolol.
There is no family history of sudden cardiac death and any heart disease. Patient was former by occupation and having addiction to tobacco and occasionally alcoholic.
On admission patient on general examination pulse -100/min regular.blood pressure was 100/70 mmhg, height -161 cm,weight 58 kg,BMI- 22.39,Iteric ,no cyanosis, oedema were present .on systemic examination bilateral crepitatition present in infrascapular area ,apex beat present on 5 th intercosta space on midclavicular lines,s1 soft.s2 present,s3,s4 absent .No thrill ,murmur,parasternal heave were present.
On investigation E.C.G. ST segment elevation seen in lead II,III,aVf, ST segment depression in lead I,Avl,Twave inversion in v1-v6, epsilon wave in V1-v3. Troponin card test was positive and patient diagnosed as acute inferior wall Myocardial Infraction with congestive cardiac failure.
Other investigation were random blood sugar was 120 mg/dl, urea 90 mg/dl, creatinine 2 mg/dl,s.billirubin 3.7 mg/dl , direct billirubin 2.3 mg/dl,S.G.O.T & S.G.P.T were high,alkaline phosphatase 12877 mg/dl ,sodium 130 mg/dl, potassium 4.9 mg/dl.s. protein 7 g/dl,serum albumin 4 gm/dl,s. cholesterol 114 mg/dl, triglyceride 64 mg/dl,LDL 84 MG/DL,VLDL 13 mg/dl,HDL-17 mg/dl.
TLC count were 34000/cumm,Hb 14.5 gm/dl, platelet 222000 /cumm
X ray chest cardiomegaly was present. On echocardiography Right ventricle dilated ,RV wall thickness 4 mm. Right Atrium dilated, severe non hypertensive TR , Right ventricle thinned out ,normal LV systolic function suggestive of Arrhythmogenic right ventricular dysplasia. Patient was advised to continue amiodarone ,aspirin ramipril and has been asymptomatic ever since.
The name arrhythmogenic right ventricular dysplasia(ARVD) was coined for the first time in 1978 by Frankand Fontaine. Arrythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a cardiomyopathy characterized pathologically by fibrofatty replacement primarily of the RV and clinically by life-threatening ventricular arrhythmias in apparently healthy young people. The prevalence of the disease has been estimated at 1 in 5,000 individuals, although this estimate will likely increase as awareness of the condition increases among physicians. Arrythmogenic RV cardiomyopathy is recognized as a cause of sudden death during athletic activity because of its association with ventricular arrhythmias that are provoked by exercise-induced catecholamine discharge. Diagnosis may be difficult because many of the electrocardiographic abnormalities mimic patterns seen in normal children, and the disease often involves only patchy areas of the RV.
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he prevalence of ARVC in the general population is approximately 1 in 5,000 , but the disease is not widely recognized because of the difficulty in making the diagnosis . A familial predilection of the disease has been recognized since 1982 when Marcus et al. described 24 cases of ARVC, two in the same family. Subsequently, several groups have reported familial ARVC, and families with two or more affected individuals have been recognized in Asian, Japanese, Northern European, African and North American populations .
The disease is typically inherited as an autosomal dominant trait with variable penetrance and incomplete expression. The genes responsible for ARVC have not been identified, but seven loci have been mapped to chromosomes 14 (14q23 to q24 and 14q12 to q22), 1 (1q42 to q43), 2 (2q32.1 to q32.2), 3 (3p23) and 10 (10p12 to p14) . The genetic products of these sites have not been easily identified because of incomplete penetrance and expression, age-related expression and difficulties with accurate diagnosis of the disease. Recently, plakoglobin has been identified as the first gene responsible for autosomal recessive ARVC . The gene was identified in Naxos disease where greater than 90% cosegregation of ARVC with cutaneous manifestations, woolly hair and keratodermia, facilitated case identification. Plakoglobin participates in forming cell-to-cell junctions. It is postulated that inadequate cell adherence damages the cardiac cell membranes leading to cell death and fibrofatty replacement.
The cardiac ryanodine receptor gene (RyR2) has also recently been implicated in ARVC and offers potential insight into the association of adrenergically mediated ventricular arrhythmias with this disease. The ryanodine receptor induces calcium release from the sarcoplasmic reticulum into the cytosol . The cardiac ryanodine receptor has also been identified as being responsible for catecholamine-induced ventricular tachycardia . Its skeletal muscle counterpart has been implicated in malignant hyperthermia and central core disease , a congenital myopathy, but the mechanisms by which mutations in the cardiac ryanodine receptor might mediate fibrofatty myocardial changes are not clear and will likely be the focus of future studies. Despite these advances, genetic analysis for ARVD is not clinically available and is restricted to research laboratories.
Characteristically, the RV in ARVC is replaced with a fibrofatty tissue. Morphologic alterations of ARVC usually begin in the subepicardium or mediomural layers of the RV and progress to the endocardium with fibrofatty replacement of myocytes and thinning of the wall. The regions of RV most frequently involved are the RV inflow area, the apex and the infundibulum. These three areas form “the triangle of dysplasia” . However, small amounts of fat are present in the epicardial layer and within the RV myocardium in normal subjects.
In addition to a genetic cause of ARVC, disontogenetic, degenerative, infectious or inflammatory ( apoptotic and myocyte transdifferentiation theories have been proposed either as the cause of or as environmental factors facilitating gene expression.
The disontogenetic theory is largely historical but suggests that ARVC is a milder form of “parchment RV” or Uhl’s anomaly a congenital hypoplasia of the RV myocardium, which presents in infancy as congestive heart failure (CHF) .
The degenerative theory suggests that ARVC is a consequence of myocyte death due to an inherited metabolic or ultrastructural defect. A possible defect has been mapped to chromosome l4q23 to q24 . This area encodes for the alpha actinin gene, which shares structural homology with the amino terminal domain of dystrophin. This finding supports the concept of a genetically determined atrophy similar to that in patients with Duchenne’s or Becker’s muscular dystrophy. Some have suggested that ARVC should be considered as a “myocardial dystrophy” Furthermore, skeletal muscle involvement has been reported in a Swedish family with ARVC, and the defect has been tentatively localized to chromosome 10q22.3
The infectious or inflammatory theory maintains that the disease results from previous myocarditis. Inflammatory infiltrates are common in histologic specimens from patients with ARVC
The ECG in patients with ARVD/C usuallyshows sinus rhythm, QRS duration 110 ms in lead V1, a terminal deï¬‚ection within or at the end of the QRS complex (called epsilon wave) in leads V1–V3 (30% of patients), and inversion of T waves in the right precordial leads (50%–70% of patients). Complete right bundle branch
block is found in approximately 15% of patients and incomplete right bundle branch block in 18% of patients with ARVD/C. In the presence of right bundle branch block pattern, selective prolongation of the QRS duration in leads V1–V3 compared with lead V6 (25 ms, parietal block) is an important hallmark of ARVD/C. . Additional ECG markers have been reported, such as the ratio of QRS duration in leads V1V2V3 vs V4V5V6 >1.2 and a prolonged S wave upstroke in V1–V3 >55 ms in the absence of right bundle branch block. Arrhythmia Left bundle branch block type VT on ECG, Holter monitoring, or during exercise testing Extrasystoles of more than 200 over a 24-h period.
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mild to Severe dilatation and reduction of right ventricular ejection fraction with no (or only mild) left ventricular impairment Localised right ventricular aneurysms (akinetic or dyskinetic areas with diastolic bulging) Severe segmental dilatation of the right ventricle.
Radionuclide angiography, by showing abnormal right ventricular function with left ventricular involvement, is usefulfor predicting subsequent cardiac death in ARVD/C.Myocardial perfusion scintigraphy allows noninvasive assessment of right ventricular damage in patients with arrhythmias due to ARVD/C This technique may distinguish patients with ARVD/C from those with idiopathic right ventricular outï¬‚ow tract tachycardias
Cardiovascular magnetic resonance imaging
This modality allows visualization of the right ventricle, not only anatomically and morphologically but also in functional and ï¬‚ow dynamic terms. Functional ab normalities consist of right ventricular aneurysms, regional thinning, right ventricular dilation, failure of systolic thickening, and impaired global and diastolic right ventricularfunction.
The clinical presentation varies widely because ARVD/C includes a spectrum of different conditions rather than a single identity. Different pathologic processes may manifest a diversity of symptoms, such as fatigue, atypical chest pain,
syncope, or acute coronary syndrome .ARVD/C is a disease that may have a temporal progression, and the disease may present differently according to the time of presentation There may be (1) a symptomatic form with transient or sustained ventricular tachycardia of left bundle branch block configuration, although right bundle branch block configuration also can be observed; (2) an asymptomatic form consisting of ventricular ectopic beats (1,000/24 hours); (3) right ventricular failure with or without arrhyth mias; and (4) a masked form in which sudden death, usuallyduring exercise, is the first clinical presentation. Overall, judging the accurate position of the patient on the time scale of the spectrum is difficult, and some patients may remain stable for several decades.
A definite diagnosis of ARVD/C is based on histologic demonstration of transmural fibrofatty replacement of right ventricular myocardium at either autopsy or surgery.
In 1994, McKenna et al established the criteria for diagnosing ARVD/C in a Task Force report on ARVD/C
Criteria for Diagnosis of ARVD/C
1. Family history
Familial disease confirmed at necropsy or surgery.
Family history of premature sudden death (,35 years of age) due to suspected ARVD/C.
Family history (clinical diagnosis based on present criteria).
2. ECG depolarization/conduction abnormalities
Epsilon waves or localized prolongation (.110 ms) of QRS complex in right precordial leads (V1–V3).
Late potentials on signal-averaged ECG.
3. ECG repolarization abnormalities
Inverted T waves in right precordial leads (V2 and V3) in people. 12 years of age and in absence of right bundle branch block.
Sustained or nonsustained left bundle branch block–type ventricular tachycardia documented on ECG or Holter monitoring or during exercise testing.
Frequent ventricular extrasystoles (.1000/24 h on Holter monitoring).
5. Global or regional dysfunction and structural alterations*
Severe dilatation and reduction of RV ejection fraction with no or mild LV involvement.
Localized RV aneurysms (akinetic or dyskinetic areas with diastolic bulgings). Severe segmental dilatation of RV.
Mild global RV dilatation or ejection fraction reduction with normal LV.
Mild segmental dilatation of RV.
Regional RV hypokinesia.
6. Tissue characteristics of walls
Fibrofatty replacement of myocardium on endomyocardial biopsy.
*Detected by echocardiography, angiography, magnetic resonance imaging, or radionuclide scintigraphy.
Modified from McKenna et al.
Because clinical findings that predict long-term outcomeof patients with ARVD/C are incompletely known, no precise guidelines exist to select patients who should be treated with b-blockers, antiarrhythmic drugs, or a Implantable cardioverter-defibrillator. r. Management of patients with ARVD/C is individualized, and strategies are based on local experience of the different centers.
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- Rampazzo A, Nova A, Malacrida S, Beffagua G, Bauce B, Rossi V, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular dysplasia. Am J Hum Genet 2002;71(5):1200e6
- Bauce B, Rampazzo A, Basso C, Bagattin A, Daliento L, Tiso N, et al. Screening of ryanodine receptor type 2 mutations in families with effort induced polymorphic ventricular rhythmias and sudden death: early diagnosis of asymptomatic carrier. JACC 2002;40(2):341e9.
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