BMR Medicine. Case Study YOUNG PATIENT WITH RECURRENT PRESYNCOPE: A CASE REPORT

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1 Open Access Scientific Publisher Case Study YOUNG PATIENT WITH RECURRENT PRESYNCOPE: A CASE REPORT ABSTRACT Manish Ruhela *, Vijay Pathak, Anoop Jain, Department of Cardiology, Sawai Man singh Medical College & Hospital, Jaipur, Rajasthan, India Correspondence should be addressed to Manish Ruhela Received December 6, 2014; Accepted February 02, 2015; Published February 28, 2015; Copyright: 2015 Manish Ruhela et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Cite This Article: Ruhela, M., Pathak, V., Jain, A., (2015). Young patient with recurrent presyncope: A case report. BMR Medicine, 1(1) A 40 years old male patient presented with history of recurrent presyncopes from last 1 year, lasting for 2-3 minutes and associated with palpitations and perspiration. On 12 lead electrocardiography he was diagnosed to have ventricular tachycardia and after thorough evaluation he was diagnosed as a case of Arrythmogenic right ventricular dysplasia (ARVD). So, in this case report we shall discuss some important clues related with ARVD diagnosis on ECG and echocardiography when a young patient presented with ventricular tachycardia and review the existing literature. KEY WORDS: recurrent presyncope, ventricular tachycardia, electrocardiography, Arrythmogenic right ventricular tachycardia INTRODUCTION Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is an inherited heart disease. Arrhythmogenic right ventricular dysplasia, which was first described in 1977, is a poorly understood yet potentially lethal cause of cardiac disease [1][2]. Once thought to be rare, ARVD has been shown to have an incidence of six per 10,000 persons in certain populations [3]. ARVD accounts for 3 to 4 percent of deaths in sports and 5 percent of sudden cardiac deaths in persons younger than 35 years [4]. Given the relative frequency of this disorder and its potential for disastrous outcomes, it is important for primary care physicians to be familiar with its presentation, diagnosis, and management. CASE REPORT 40yrs male patient was presented with presyncope, multiple episodes lasting for about 2-3 min and associated with palpitations and perspiration. Denies any history of chest pain, loss of consciousness, no family history of sudden cardiac death in family and with history of similar episodes from last 1 year. His past medical history is not significant. ECG in the emergency department showed ventricular tachycardia of left bundle branch block (LBBB) morphology with axis of +80 (Figure 1). At that time patient was hemodynamically compromised with systolic blood pressure of 80 mmof hg, so electrical cardioversion done by 200J shock. After the cardioversion ECG reverted back to normal sinus rhythm and his vitals were stabilized. Now ECG showed widening of terminal QRS complex with epsilon wave (notching in terminal QRS) in precordial leads V1 and V2. Echocardiographic examination showed 1) enlargement of right atrium and ventricle 2) excessive trabeculations at right ventricular apex along with aneurysm at RV free wall 3) dilation of 1

2 right ventricular outflow tract (RVOT) and RV hypokinesia 4) normotensive tricuspid regurgitation. His blood investigations were within normal limits. According to Revised task Force Criteria for ARVD/ARVC, in these patient two major criteria fulfills (RV hypokinesia and localized aneurysm of RV free wall, dialation of RVOT on BMR Medicine echocardiography and epsilon wave in lead V1-V2 on ECG) and diagnosis of ARVD was made. Coronary angiography was normal in this patient. Patient was refused for further evaluation and genetic testing, so discharged on medical management in form of Sotalol 160 mg twice daily. Figure 1: Electrocardiogram at emergency department showing Ventricular Tachycardia of left bundle branch (LBBB) morphology with axis of +80 2

3 Figure 2: ECG after electrical cardio version showing normal sinus rhythm with epsilon waves in form of notching in terminal part of QRS in lead V1- V2 with T wave inversion Figure 3: 2 D-echocardiography in apical four chamber view showing dilated right atrium and ventricle and RV apex showing trabeculations and aneurysm 3

4 Figure 4: Parasternal basal short axis view showing dilation of right ventricular outflow tract(rvot) with diameter measuring 38mm( arrow) Figure 5: Apical four chamber view on echo showing aneurysm of right ventricle involving apex and free wall 4

5 Figure 6: Apical four chamber view showing Moderate Tricuspid Regurgitation Figure 7: Continuous wave on echo showing normal pressure Tricuspid Regurgitation 5

6 Figure 8: TAPSE ( ) through tricuspid annulus showing right ventricular hypokinesia DISCUSSION Arrhythmogenic right ventricular dysplasia/cardiomyopathy is genetically determined, progressive cardiomyopathy characterized histopathologically by fibrofatty replacement of the right ventricular myocardium [5]. An estimated prevalence in United States is 1:5000. It is more commonly seen males. It can be isolated or familial with autosomal dominant pattern. Genetic variations have been found in desmosomes that are responsible for cell to cell binding [6]. The clinical onset is delayed to adolescence or early adulthood. Clinical manifestations vary with age and stage of the disease [7]. It frequently is asymptomatic until the adolescent age. The key to making the diagnosis is suspecting the presence of ARVD, particularly in any young patient presenting with a ventricular arrhythmia, syncope, sudden cardiac death (SCD), heart failure or in a patient with a family history of SCD. In early stage of the disease, changes are subtle or absent and confined to a localized region of the right ventricle, typically the inflow tract, outflow tract or apex of the RV, the triangle of dysplasia [8]. Progression leads to more diffuse RV involvement and also LV. Predominant LV disease is also recognized [9]. LV involvement in ARVD/C has been described with a prevalence of 16% to 76% [10]. It can affect septum but more often involves the LV free wall with a predilection for posterolateral area [11]. The diagnosis is made based on the criteria established by the task force for ARVD/C; limitation is that it does not include LV involvement. These patients are at increased risk for arrhythmias and SCD in early stages and biventricular failure in late stages. The Revised Task Force Criteria for ARVD / ARVC Revised Task Force Criteria 6 I. Global or regional dysfunction and structural alterations

7 By 2D echo: Regional RV akinesia, dyskinesia, or aneurysm and 1 of the following (end diastole): PLAX RVOT 32 mm (corrected for body size [PLAX/BSA] 19 mm/m 2 ) PSAX RVOT 36 mm (corrected for body size [PSAX/BSA] 21 mm/m 2 ) or fractional area change 33% By MRI: By 2D echo: Regional RV akinesia or dyskinesia and 1 of the following (end diastole): PLAX RVOT 29 to <32 mm (corrected for body size [PLAX/BSA] 16 to <19 mm/m 2 ) PSAX RVOT 32 to <36 mm (corrected for body size [PSAX/BSA] 18 to <21 mm/m 2 ) or fractional area change >33% to 40% By MRI: Regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following: Ratio of RV end-diastolic volume to BSA 110 ml/m 2 (male) or 100 ml/m 2 (female) or RV ejection fraction 40% By RV angiography: Regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following: Ratio of RV end-diastolic volume to BSA 100 to <110 ml/m 2 (male) or 90 to <100 ml/m 2 (female) or RV ejection fraction >40% to 45% Regional RV akinesia, dyskinesia, or aneurysm II. Tissue characterization of wall Residual myocytes <60% by morphometric analysis (or <50% if estimated), with fibrous replacement of the RV free wall myocardium in 1 sample, with or without fatty replacement of tissue on endomyocardial biopsy III. Repolarization abnormalities Inverted T waves in right precordial leads (V 1, V 2, and V 3 ) or beyond in individuals >14 years of age (in the absence of complete right bundle-branch block QRS 120 ms) IV. Depolarization/conduction abnormalities Epsilon wave (reproducible low-amplitude signals between end of QRS complex to onset of the T wave) in the right precordial leads (V 1 to V 3 ) V. Arrhythmias Nonsustained or sustained ventricular tachycardia of left bundle-branch morphology with superior axis (negative or Residual myocytes 60% to 75% by morphometric analysis (or 50% to 65% if estimated), with fibrous replacement of the RV free wall myocardium in 1 sample, with or without fatty replacement of tissue on endomyocardial biopsy Inverted T waves in leads V 1 and V 2 in individuals >14 years of age (in the absence of complete right bundlebranch block) or in V 4, V 5, or V 6 Inverted T waves in leads V 1, V 2, V 3, and V 4 in individuals >14 years of age in the presence of complete right bundle-branch block Late potentials by SAECG in 1 of 3 parameters in the absence of a QRS duration of 110 ms on the standard ECG Filtered QRS duration (fqrs) 114 ms Duration of terminal QRS <40 µv (low-amplitude signal duration) 38 ms Root-mean-square voltage of terminal 40 ms 20 µv Terminal activation duration of QRS 55 ms measured from the nadir of the S wave to the end of the QRS, including R, in V 1, V 2, or V 3, in the absence of complete right bundle-branch block Nonsustained or sustained ventricular tachycardia of RV outflow configuration, left bundle-branch block 7

8 indeterminate QRS in leads II, III, and avf and positive in lead avl) VI. Family history ARVC/D confirmed in a first-degree relative who meets current Task Force criteria ARVC/D confirmed pathologically at autopsy or surgery in a first-degree relative Identification of a pathogenic mutation categorized as associated or probably associated with ARVC/D in the patient under evaluation morphology with inferior axis (positive QRS in leads II, III, and avf and negative in lead avl) or of unknown axis >500 ventricular extrasystoles per 24 hours (Holter) History of ARVC/D in a first-degree relative in whom it is not possible or practical to determine whether the family member meets current Task Force criteria Premature sudden death (<35 years of age) due to suspected ARVC/D in a first-degree relative ARVC/D confirmed pathologically or by current Task Force Criteria in second-degree relative PLAX indicates parasternal long-axis view; RVOT, RV outflow tract; BSA, body surface area; PSAX, parasternal shortaxis view; avf, augmented voltage unipolar left foot lead; and avl, augmented voltage unipolar left arm lead. Diagnostic terminology for original criteria: This diagnosis is fulfilled by the presence of 2 major, or 1 major plus 2 minor criteria or 4 minor criteria from different groups. Diagnostic terminology for revised criteria: definite diagnosis: 2 major or 1 major and 2 minor criteria or 4 minor from different categories; borderline: 1 major and 1 minor or 3 minor criteria from different categories; possible: 1 major or 2 minor criteria from different categories. Hypokinesis is not included in this or subsequent definitions of RV regional wall motion abnormalities for the proposed modified criteria. A pathogenic mutation is a DNA alteration associated with ARVC/D that alters or is expected to alter the encoded protein, is unobserved or rare in a large non ARVC/D control population, and either alters or is predicted to alter the structure or function of the protein or has demonstrated linkage to the disease phenotype in a conclusive pedigree. E.g.: in TMEM43, DSP, PKP2, DSG2, DSC2, JUP. Circulation.2010; 121: CONCLUSION ARVD is a rare disorder with a very heterogenous presentation. The disease is frequently asymptomatic until adolescence and the findings on testing are subtle - hence frequently missed. It is usually progressive. Suspecting ARVD is key to making the diagnosis. The disease should be suspected in any patient with unexplained right heart failure or ventricular arrhythmias / SCD particularly when the heart on routine examination appears to be normal. Given the relative frequency of this disorder and its potential for disastrous outcomes, it is important for primary care physicians to be familiar with its presentation, diagnosis, and management. REFERENCES [1] Fontaine GH, Guiraudon G, Frank R, Vedel J, Grosgogeat Y, Calrol C et al.; Stimulation studies and epicardial mapping in ventricular tachycardia: study of mechanisms and selection for surgery. In Kulbertus HE editor; Re-entrant arrhythmias: mechanisms and treatment. Baltimore: University Park Press, 1977: [2] Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C et al.; Right ventricular dysplasia: a report of 24 adult cases. Circulation. 1982; 65: [3] Ahmad F; The molecular genetics of arrhythmogenic right ventricular dysplasiacardiomyopathy. Clin Invest Med., 2003; 26: [4] Thiene G, Nava A, Corrado D, Rossi L, Pennelli N; Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med., 1988; 318: MD 45 Volume 21 Issue [5] Basso C, Corrado D, Marcus FI, Nava A, Thiene G; Arrhythmogenic right ventricular cardiomyopathy. Lancet, 2009; 373: [6] Sen-Chowdhry S, Syrris P, McKenna WJ; Genetics of right ventricular cardiomyopathy. J Cardiovasc Electrophysiol., 2005; 16: [7] Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ; Clinical and genetic characterization of families with Arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation, 2007; 115: [8] Marcus FI, Fontaine GH, Guiraudon G, Frank R, Laurenceau JL, Malergue C, Grosgogeat Y; Right ventricular dysplasia: a report of 24 adult cases. Circulation, 1982; 65: [9] Norman M, Simpson N, Mogensen J, Shaw A, Hughes S, Syrris P et al.; Novel mutation in desmoplakin causes arrhythmogenicleft ventricular cardiomyopathy. Circulation, 2005; 112: [10] Nava A, Bauce B, Basso C, Muriago M, Rampazzo A, Villanova C et al.; Clinical profileand long-term followup of 37 families with Arrhythmogenicright ventricular cardiomyopathy. Journal of the American College of Cardiology, 2000; 36(7): [11] Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F et al.; Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. Journal