BioSciences BioSciences Regular Paper RRBS, 9(4), 2014 [146-153] - PDF document

ISSN : 0974 - 7532 Volume 9 Issue 4 Research & Reviews in BioSciences BioSciences Regular Paper RRBS, 9(4), 2014 [146-153] Ventricular tachicardia as a form of presentation of isolated noncompaction of left ventricular myocardium M ª-José Gérez Callejas 1 *, Jos é-Tomás Gómez Sáenz 2 , Jaione Gonz ález Aguilera 2 , Rosario Zangr óniz Uru ñuela 2 , M ª Ángeles Blanco Mardones 2 , Ana Ib áñez Castro 1 , Yanett Orellana Fuentes 3 1 061 Emergency Service, La Rioja, (SPAIN) 2 Najera ’ s Health Center, La Rioja, (SPAIN) 3 Hospital San Pedro, Logro ño, La Rioja, (SPAIN) E-mail : jtgomez@riojasalud.es ABSTRACT KEYWORDS Isolated ventricular noncompaction left ventricular (LVNC) is a rare genetic Noncompaction disease characterized by left ventricular hypertrabeculation. Clinically cardiomyopathy; manifested as systolic dysfunction, heart failure, ventricular arrhythmias, Ventricular tachycardia. thromboembolic events and sudden death. It can occur alone or in combination with other congenital heart disease and / or neuromuscular disorders. It is diagnosed by echocardiography and magnetic resonance imaging and has a poor prognosis with a mortality rate of 60-80% at 6 years, half of sudden death (SD). We present a case of LVNC which debuted as  2014 Trade Science Inc. - INDIA ventricular tachycardia. INTRODUCTION nation with other congenital heart diseases and / or neu- romuscular disorders [7,8] . Isolated noncompaction of left ventricular myocar- The complementary tests for diagnosis are dium (LVNC) is a rare genetic disorder which repre- echocardiography and magnetic resonance imaging sents an alteration of the morphogenetic endocardial (MRI). It has a poor prognosis with a mortality of 60- 80% at 6 years [9,10] , half of sudden death (SD) [11] . due to an interruption in the myocardial compaction which occurs in very early stages of embryonic devel- We present a case of LVNC which debuted as ven- opment; it consists of a left ventricular tricular tachycardia (VT). hypertrabeculation (VI) with deep intertrabecular re- cesses communicating with the ventricular cavity directly CASE REPORT but not coronary circulation [1-3] . Clinically manifested as systolic dysfunction, heart 49 year-old male with a history of dyslipidemia and failure, ventricular arrhythmias, thromboembolic events schizophrenia treated with olanzapine 10mg/24 h. Cur- and sudden death [4-6] . It can occur alone or in combi- rent smoker of 3-4 cigarettes / day with a cumulative

147 M ª-José Gérez Callejas et al. RRBS, 9(4) 2014 Regular Paper consumption of 46 pack-years. giography: normal. In the cardiology ward, the Finding himself previously well, he presented, in echocardiogram and cardiac MRI (Figures 4-6) ob- connection with moderate effort, self-limited syncope served slightly dilated left ventricle with lateral associated with feelings of instability, thoracic hypertrabeculation, severe systolic dysfunction (ejec- dysesthesias and important vegetative signs. tion fraction (EF) 0.27), areas of fibrosis in the During the physical examination gravity of the pa- inferolateral face, anterior papillary muscle and the in- tient was impressive, agitated, dyspneic with undetect- ferior interventricular junction, confirming the diagno- able pulse and blood pressure. Electrocardiogram sis of LVNC with areas of fibrosis. (ECG) is performed (Figure 1) in which VT is appreci- During admission a cardioverter defibrillator (ICD) ated. After sedation with midazolam a 100 J was implanted. At discharge treatment with cardioversion is applied which results in the recovery acenocoumarol, carvedilol 6.25mg/12h, enalapril of sinus rhythm (Figure 2) with a general decline in the 2.5mg/12h, atorvastatin 40mg/24h, lansoprazole 30mg/ 24h and torasemide5mg/24h . ST up to 7mm (except in aVR lead) with marked right precordial R waves and frequent ventricular extrasys- toles indicating a subcutaneous enoxaparin 80mg, DISCUSSION 500mg lysine acetylsalicylate iv and 300 mg of amiodarone in serum glucose to happen in 30 minutes. Cardiomyopathies are heart muscle diseases in During transfer to hospital (40 minutes) progressive which alterations in the structure and function of the normalization of the ST segment, persisting T negative myocardium in the absence of coronary artery disease, waves in the inferior and lateral leads (Figure 3). He hypertension, valvular heart disease or congenital heart defects, which can give an explaination [1] . The LVNC was admitted in the ICU with a diagnosis of acute coro- nary syndrome (ACS). or spongiform cardiomyopathy [10] is classified by the Investigations. – Chest X-ray: normal. American Heart Association [12,13] as a primary genetic Ultrasensitive troponin T 2515 ng/ml. Coronary an- cardiomyopathy (TABLE 1), meaning those confined Figure 1 : Initial ECG . Ventricular tachycardia Figure 2 : ECG. Sinus rhythm, ST descent in the lateral and inferior leads, tall R waves in right precordial. Compatible with a subendocardial infarction

148 . Ventricular tachicardia as a form of presentation RRBS, 9(4) 2014 Regular Paper Figure 3 : ECG in hospital. Sinus rhythm, anterior hemiblock, nonspecific repolarization abnormalities in the inferior and lateral face. Negative T-waves in the high lateral face. Tall R-waves in right precordial. almost exclusively to the heart muscle while the in the tion, linked to the X chromosome and almost exclu- secondary ´s we see multiple organs effected. sively of childhood, is associated with dilated cardi- The first anatomical descriptions of LVNC date omyopathy, LVNC, fibroelastosis and Barth syndrome back to 1932 and they were always associated with (skeletal myopathy, recurrent neutropenia, growth re- complex cyanotic malformations, obstructions in the left tardation and aciduria with a low life expect- ventricular outflow or coronary abnormalities [6,11] . The ancy) [10,16,17,19] . The LVNC in adults is a genetically dis- isolated LVNC was described by Chin in 1990 and is tinct disease, transmitted as an autosomal dominant without extracardiac manifestations [4,10,20] . It is possible characterized by the absence of other cardiac anomalys because the intertrabecular spaces communicate with to identify affected relatives in over 25% of patients [4,6,19] , the ventricular cavity but not the coronary circula- so it is mandatory to perform echocardiography (6) for tion [6,11,14] . at least the first-degree relatives [21] . They usually are The LVNC is an extremely rare condition, with an most often asymptomatic and have better progno- sis [4,10,22] . estimated adult prevalence in the general population of 0.05% and 0.01%, in the pediatric population [15,16] with The most likely mechanism responsible for the de- an incidence of less than 0.1 per 100,000 in this group [2] . tention in the fetal myocardial compaction process is In children it is the third cause of all cardiomyopathies mediated by genetic mutations [7] . During early embry- (9.5%), behind the dilated and hypertrophic ones [10,17,18] onic development, the myocardium is a loose network with an age at diagnosis of 3 months compared to 20- of interwoven fibers, which are separated by deep re- 40 years in the adult [11] . In all series more men are af- cesses which join together the myocardial with the left ventricular cavity [7] to facilitate myocardial oxygenation, fected (60-80% of cases), although the extent of tra- beculation is higher in women and patients of African because at this stage the coronary circulation has not descent [8,11,17,19] . yet developed [20] . Compaction of this spongy mesh- There has been described sporadic and familiar work occurs between the 5th and 8th week of embry- forms of LVNC, the latter representing between 20- onic life, performing from epicardium to endocardium, 50% of all cases [16] are more common in adults [17] . In from base to apex and the septum to the LV lateral infants it can be associated (up to a third) with a facial wall [7,11,19] . The more committed segments are apical, dimorphism [17] (prominent forehead, low-set ears and followed by bottom and side midventricular [11] . The dys- strabismus). Up to 80 % of adults have neuromuscular function because of stoppage in compaction of these disorders (metabolic myopathy, optic neuropathy, mus- cardiac segments explains LVNC clinic. cular dystrophy, muscle enzyme abnormalities and / or Although present at birth, symptoms usually appear abnormal electromyogram [6,8,17,20] ), which are uncom- late, depending mainly on systolic dysfunction [10] . The mon in children [7] . In sporadic forms we find mutations three major clinical manifestations of L VNC include heart failure, arrhythmias and stroke events [13,16,21,23] . in the mitochondria, and tafazzin Z line. This last muta-