Miocardiopatía arritmogénica. Genes y proteínas desmosómicas / Arrhythmogenic Cardiomyopathy. Genes and Desmosomal Proteins

RESUMEN Desde 1996 esta enfermedad figura en la clasificación de las miocardiopatías de la OMS con el nombre de "miocardiopatía arritmogénica". A fines de la década del 70 se estableció que el ventrículo derecho (VD) puede ser el sustrato para el desarrollo de arritmias. En la década del 80 se describió el reemplazo del miocardio por tejido fibroadiposo y su naturaleza hereditaria. Posteriores descubrimientos permitieron la identificación de varios genes implicados en la producción de proteínas desmosómicas que participan en el acoplamiento intercelular lo cual llevó a definir a la miocardiopatía arritmogénica como una enfermedad desmosómica. El electrocardiograma y el ecocardiograma resultaron fundamentales y la angiocardiografía invasiva se utilizó para detectar disquinesia-aquinesia y aneurismas del VD. La biopsia endomiocárdica se perfiló como el gold standard para el diagnóstico, debido a su capacidad para detectar el reemplazo transmural por tejido fibroadiposo. El advenimiento de la resonancia magnética cardíaca (RMC) con realce tardío de gadolinio ha permitido revelar no solamente anomalías morfológico-funcionales sino también daño tisular. El conocimiento de la estructura del disco intercalar, involucrado en el acoplamiento intercelular ha permitido determinar que no solamente los desmosomas estarían comprometidos, sino que habría varias proteínas constituyentes tanto de los desmosomas, como de las uniones adherentes, las uniones gap, y los canales iónicos, integradas en una unidad conocida como "área composita". Ésta constituye una amalgama entre elementos de sostén y canales iónicos que participan en la propagación del potencial de acción, lo que ha permitido desarrollar el concepto de disco intercalar compuesto por los llamados "nodos excitoadhesivos". Las implicancias clínicas en el desarrollo de arritmias malignas son obvias.

ABSTRACT In 1996 this disease was introduced into the WHO classification of cardiomyopathies with the term "arrhythmogenic cardiomyopathy". By the end of the 70s the right ventricle (RV) was identified as a substrate for the development of arrhythmias. The replacement of the myocardium by fibrofatty tissue and the hereditary nature of this condition were described in the 1980s. Later findings led to the identification of several genes involved in the production of desmosomal proteins participating in intercellular coupling, which led to defining arrhythmogenic cardiomyopathy as a desmosomal disease. Electrocardiography and echocardiography are fundamental tools, and invasive angiocardiography was used to detect dyskinesia-akinesia and right ventricular aneurysms. Endomyocardial biopsy was established as the gold standard for the diagnosis due to its ability to detect transmural replacement by fibrofatty tissue. The advent of cardiac magnetic resonance imaging (CMRI) with late gadolinium enhancement reveals morphological and functional abnormalities and tissue damage. The understanding of intercalated disc structure involved in intercellular coupling has made it possible to determine that, apart from desmosomes, several desmosomal proteins, as adherens junctions, gap junctions and ion channels are integrated into a unit known as the " area composita". The area composita constitutes an amalgam between supporting elements and ion channels that participate in action potential propagation, which has led to develop the concept that intercalated discs are constituted by "adhesion/ excitability nodes". The clinical implications in the development of malignant arrhythmias are obvious.

Miocardiopatía arritmogénica del ventrículo derecho en pediatría / Arrhythmogenic right ventricular cardiomyopathy in pediatrics / Cardiomiopatia arritmogênica do ventrículo direito em pacientes pediátricos

Resumen: Introducción: la clasificación clásica de las miocardiopatías incluye la hipertrófica, dilatada, restrictiva y no compactada. La miocardiopatía arritmogénica del ventrículo derecho (MAVD) es una variedad hereditaria, infiltrativa, con sustitución progresiva de miocardio ventricular por tejido fibroadiposo que afecta principalmente al ventrículo derecho. Si bien los síntomas son infrecuentes en la edad pediátrica, estos pacientes presentan más episodios de muerte súbita (MS) que los adultos. Caso clínico: paciente de 12 años, de sexo masculino, portador de miocardiopatía que se manifiesta por arritmia ventricular a los siete años de vida (extrasístoles y taquicardia ventricular no sostenida). La paraclínica realizada fue compatible con MAVD, por lo que se decide realizar un estudio electrofisiológico con ablación. El procedimiento logró una leve mejoría transitoria. Sin embargo no se logró eliminar la arritmia, por lo que se implantó un desfibrilador automático. Éste no ha presentado descargas en dos años de evolución. Discusión: para el diagnóstico de nuestro paciente se utilizaron los criterios establecidos por la Task Force 2010. El diagnóstico imagenológico está basado en la demostración de alteraciones morfológicas (aneurismas) o alteraciones funcionales (aquinesia, disquinesia o asincronía de la pared), que traducen la sustitución fibroadiposa del miocardio. La presentación de arritmias de origen en el ventrículo derecho de difícil manejo farmacológico determinaron la ablación y luego la colocación de un desfibrilador. Conclusiones: se trata de una patología infrecuente pero de muy mal pronóstico por la severidad de las arritmias que se desencadenan en la evolución. El tratamiento de mayor efectividad es la colocación de un cardiodesfibrilador.

Summary: Introduction: the classical cardiomyopathy phenotypic classification includes hypertrophic, dilated, restrictive and non-compacted types. Arrythmogenic Right Ventricle Cardiomyopathy (ARVC) is a hereditary, infiltrative variety that causes the progressive replacement of ventricular myocardium with fibroadipose tissue that mainly affects the right ventricle.1-2-3 Although the onset of symptoms is uncommon in children, they seem to show more sudden death episodes than adults. Clinical case: 12 year-old male, with arrhythmogenic right ventricle cardiomyopathy (ARVC), showing ventricular arrhythmia at 7 years of age, (extrasystoles and unsustained ventricular tachycardia). Further studies confirmed electrical abnormality, so we performed an electrophysiological study with ablation. The procedure resulted in a slight temporary improvement, however, but the arrhythmia was not completely eliminated. This maintained the risk of sudden death, so we implanted a portable cardiodesfibrilador, which did not record discharges since then. Discussion . for this patient's diagnosis we used the criteria set by Task Force 2010.4 The imaging diagnosis was based on the demonstration of morphological (aneurysms) or functional alterations; akinesia, dyskinesia or asynchrony of the wall, which show myocardium fibrofatty substitution. 3 Recurring right ventricle arrhythmias, despite intense pharmacological treatment, led to a radiofrequency myocardium ablation and later to the placement of an implantable cardiodesfibrillator. Conclusions: it is a rare pathology with extremely poor prognosis due to the severe and uncontrollable arrhythmias triggered by the altered myocardium tissue. The most effective treatment is the placement of a cardiodesfibrillator.

Resumo: Introdução: a classificação fenotípica clássica da cardiomiopatia inclui os tipos hipertrófico, dilatado, restritivo e não compactado. A cardiomiopatia arritmogênica do ventrículo direito (CAVD) é uma variedade hereditária infiltrativa que causa a substituição progressiva do miocárdio ventricular por tecido fibro-gorduroso que afeta principalmente o ventrículo direito. Embora o início dos sintomas seja incomum em crianças, elas parecem apresentar mais episódios de morte súbita do que adultos. Caso clínico: menino de 12 anos, com cardiomiopatia arritmogênica de ventrículo direito (CAVD), apresentou arritmia ventricular aos 7 anos de idade (extrassístoles e taquicardia ventricular não sustentada). Novos estudos confirmaram anormalidade elétrica, por isso realizamos um estudo eletrofisiológico com ablação. O procedimento resultou numa ligeira melhora temporária, porém, a arritmia não foi completamente eliminada. Isso manteve o risco de morte súbita, por isso implantamos um cardiodesfibrilador portátil, que desde então não tem registrado descargas. Discussão: para o diagnóstico do paciente, utilizamos os critérios estabelecidos pela Força-Tarefa 2010. O diagnóstico imagenológico foi baseado na demonstração de alterações morfológicas (aneurismas) ou funcionais; acinesia, discinesia ou assincronia da parede, que mostraram substituição fibrogordurosa do miocárdio. As arritmias de ventrículo direito recorrentes, apesar do intenso tratamento farmacológico, levaram à ablação do miocárdio por radiofrequência e, posteriormente, à colocação dum cardiodesfibrilador implantável. Conclusões: a CAVD é uma patologia rara de prognóstico extremamente ruim devido às arritmias graves e incontroláveis desencadeadas pelo tecido miocárdico alterado. O tratamento mais eficaz é a colocação de cardiodesfibrilador.

Fragmentación del QRS y muerte súbita en paciente con displasia arritmogénica del ventrículo derecho / Fragmented QRS and sudden death in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy

RESUMEN La miocardiopatía o displasia arritmogénica del ventrículo derecho es una cardiopatía de origen genético cuyo diagnóstico supone, a menudo, un reto para el clínico. Es una de las causas más comunes de muerte súbita cardíaca en la adolescencia y en los adultos jóvenes. Se presenta el caso de un paciente con historia de arritmias ventriculares malignas y de muerte súbita cardíaca recuperada, por displasia arritmogénica del ventrículo derecho, con fragmentación del QRS en las derivaciones precordiales derechas, como marcador de la presencia de un sustrato propicio para el surgimiento de la fibrilación ventricular espontánea. Se comenta la patogenia, el diagnóstico y el tratamiento de esta enfermedad.

ABSTRACT The arrhythmogenic right ventricular dysplasia or cardiomyopathy is a genetic heart disease whose diagnosis is often a challenge for the clinician. It is one of the most common causes of sudden cardiac death in adolescence and in young adults. We present the case of a patient with a history of malignant ventricular arrhythmias and recovered sudden cardiac death due to arrhythmogenic right ventricular dysplasia, with QRS fragmentation in the right precordial leads, as a marker of the presence of a suitable substrate for the emergence of spontaneous ventricular fibrillation. The pathogenesis, diagnosis and treatment of this disease are discussed.

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) - What We Have Learned after 40 Years of the Diagnosis of This Clinical Entity / Cardiomiopatia/Displasia Arritmogênica do Ventrículo Direito (C/DAVD) - O Que Aprendemos após 40 Anos do Diagnóstico desta Entidade Clínica

Abstract Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) was initially recognized as a clinical entity by Fontaine and Marcus, who evaluated a group of patients with ventricular tachyarrhythmia from a structurally impaired right ventricle (RV). Since then, there have been significant advances in the understanding of the pathophysiology, manifestation and clinical progression, and prognosis of the pathology. The identification of genetic mutations impairing cardiac desmosomes led to the inclusion of this entity in the classification of cardiomyopathies. Classically, ARVC/D is an inherited disease characterized by ventricular arrhythmias, right and / or left ventricular dysfunction; and fibro-fatty substitution of cardiomyocytes; its identification can often be challenging, due to heterogeneous clinical presentation, highly variable intra- and inter-family expressiveness, and incomplete penetrance. In the absence of a gold standard that allows the diagnosis of ARVC/D, several diagnostic categories were combined and recently reviewed for a higher diagnostic sensitivity, without compromising the specificity. The finding that electrical abnormalities, particularly ventricular arrhythmias, usually precede structural abnormalities is extremely important for risk stratification in positive genetic members. Among the complementary exams, cardiac magnetic resonance imaging (CMR) allows the early diagnosis of left ventricular impairment, even before morpho-functional abnormalities. Risk stratification remains a major clinical challenge, and antiarrhythmic drugs, catheter ablation and implantable cardioverter defibrillator are the currently available therapeutic tools. The disqualification of the sport prevents cases of sudden death because the effort can trigger not only the electrical instability, but also the onset and progression of the disease.

Resumo A cardiomiopatia/displasia arritmogênica do ventrículo direito (C/DAVD) foi inicialmente reconhecida como uma entidade clínica por Fontaine e Marcus que avaliaram um grupo de pacientes com taquiarritmia ventricular proveniente de um ventrículo direito (VD) estruturalmente comprometido. Desde então, houve avanços significativos na compreensão da fisiopatologia, manifestação e evolução clínica e prognóstico da patologia. A identificação de mutações genéticas comprometendo os desmossomos cardíacos levou a inclusão desta entidade na classificação das cardiomiopatias. Classicamente, a C/DAVD é uma doença hereditária que se caracteriza por arritmias ventriculares, disfunção ventricular direita e/ou esquerda; e substituição fibro-gordurosa dos cardiomiócitos; cuja identificação pode ser muitas vezes desafiadora, devido à apresentação clínica heterogênea, expressividade intra- e inter-familiar altamente variável e penetrância incompleta. Na falta de um padrão-ouro que permita o diagnóstico da C/DAVD, várias categorias diagnósticas foram combinadas e, recentemente revisadas buscando uma maior sensibilidade diagnóstica, sem comprometer a especificidade. A descoberta de que as anormalidades elétricas, particularmente as arritmias ventriculares, geralmente precedem anormalidades estruturais é extremamente importante para a estratificação de risco em membros genéticos positivos. Entre os exames complementares, a ressonância magnética cardíaca (RMC) possibilita o diagnóstico precoce de comprometimento ventricular esquerdo, mesmo antes das anormalidades morfofuncionais. A estratificação de risco continua a ser um grande desafio clínico e medicamentos antiarrítmicos, ablação de cateter e desfibrilador cardioversor implantável são as ferramentas terapêuticas atualmente disponíveis. A desqualificação do esporte previne casos de morte súbita uma vez que o esforço pode desencadear não só a instabilidade elétrica, mas também deflagrar o início e a progressão da doença.

Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation

Objective Arrhythmogenic cardiomyopathy (ACM) is not an uncommon cause of cardiac morbidity in Kashmir valley. This study was designed to document various clinical features and to sequence exons 11 and 12 of plakophilin 2 (PKP2) gene in these patients. Methods ACM patients who attended cardiology outpatient department of our institute from January 2014 to April 2015 were included in the study. Their records were reviewed. Controls were randomly selected, who had no history or family history of cardiac illness and had a normal cardiac examination. A blood sample was also taken from both the groups for sequencing of exon 11 and 12 of PKP2 gene. ACM patients were followed up until July 2016. Results Eleven ACM patients and seven controls were included in the study. Most common mode of presentation was ventricular tachycardia (VT). Two patients had left ventricular (LV) systolic dysfunction. One patient had a splice site mutation in exon 12 of PKP2 gene and one patient died during follow-up. One of the controls had an intronic variation that has no pathogenic significance vis-à-vis ACM. Conclusion Our study describes various clinical parameters in ACM patients and a recessive plakophilin 2 mutation after a limited PKP2 gene sequencing.

Miocardiopatía/displasia arritmogénica del ventrículo derecho. Revisión de la literatura además de un reporte de caso / Arrhythmogenic right ventricular cardiomyopathy/dysplasia. Literature review and case report

Resumen: La miocardiopatía/displasia arritmogénica del ventrículo derecho es una enfermedad hereditaria autosómica dominante con una prevalencia estimada de 1:2,500-1:5,000, siendo mayor en el género masculino (3:1). Se caracteriza histológicamente por reemplazo de los cardiomiocitos por tejido fibroadiposo, lo cual predispone a arritmias ventriculares, insuficiencia ventricular derecha y muerte súbita cardiaca. El objetivo principal del tratamiento es reducir el riesgo de muerte súbita y mejorar la calidad de vida de los pacientes. Se presenta el caso de una mujer de 23 años con clínica de palpitaciones, dolor torácico con actividad física, síncope y cefalea iniciada hace 6 años durante un primer embarazo. Por aumento de sintomatología se realizó prueba de esfuerzo, durante la cual presentó taquicardia ventricular monomórfica sostenida colapsante. Se realizó cardiorresonancia, evidenciando dilatación ventricular derecha, aumento en su trabeculación y disminución de su función. Se realizó ablación con mapeo tridimensional; durante la comprobación con infusión de isoproterenol se generó flutter ventricular polimórfico requiriendo cardioversión eléctrica. Se decidió implantar cardiodesfibrilador bicameral y realizar ablación de ganglio estrellado como prevención secundaria. Tras su egreso reconsultó múltiples veces por descargas del dispositivo asociadas a palpitaciones. Se realizó una revisión exhaustiva de la historia clínica encontrando que la paciente tiene características sugestivas de displasia arritmogénica del ventrículo derecho por lo cual se aplican los criterios de Task Force concluyendo que, al cumplir con más de 2 criterios mayores, la paciente presentaba un diagnóstico definitivo de esta enfermedad. © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. Este es un artículo Open Access bajo la licencia CC BY-NC-ND (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Abstract: Arrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited autosomal dominant disease, with an estimated prevalence of 1:2,500 to 1:5,000, being higher in males (3:1). It is characterised histologically by the substitution of cardiomyocytes for fibrous-adipose tissue, which predisposes to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. The main aim of treatment is to reduce the risk of sudden death and improve the quality of life of patients. The case is presented of a 23 year old woman whose clinical symptoms started with palpitations, chest pain with physical activity, syncope, and headache, 6 years ago during her first pregnancy. Due to an increase in symptomatology, a stress test was performed, during which she collapsed with a sustained monomorphic ventricular tachycardia. A cardiac magnetic resonance scan showed dilation, an increase in trabeculae, and decreased function of the right ventricle. A 3-dimensional mapping and ablation was performed, and during the isoproterenol infusion test, a polymorphic ventricular flutter was generated that required electrical cardioversion. The decision was made to implant a dual chamber cardioverter defibrillator and perform stellate ganglion ablation as secondary prevention. After her discharge, the patient re-consulted many times due to discharges of the device associated with palpitations. A comprehensive review of the patient's medical records was performed, finding characteristics that may suggest arrhythmogenic right ventricular dysplasia. The Task Force criteria was applied, concluding that, as she met more than 2 major criteria, the patient had a definitive diagnosis of this disease. © 2017 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. This is an open access article under the CC BY-NC-ND license (https://creativecommons.org/licenses/by-nc-nd/4.0/).

Catheter Ablation of Ventricular Tachycardia in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is predominantly an inherited cardiomyopathy with typical histopathological characteristics of fibro-fatty infiltration mainly involving the right ventricular (RV) inflow tract, RV outflow tract, and RV apex in the majority of patients. The above pathologic evolution frequently brings patients with ARVD/C to medical attention owing to the manifestation of syncope, sudden cardiac death (SCD), ventricular arrhythmogenesis, or heart failure. To prevent future or recurrent SCD, an implantable cardiac defibrillator (ICD) is highly desirable in patients with ARVD/C who had experienced unexplained syncope, hemodynamically intolerable ventricular tachycardia (VT), ventricular fibrillation, and/or aborted SCD. Notably, the management of frequent ventricular tachyarrhythmias in ARVD/C is challenging, and the use of antiarrhythmic drugs could be unsatisfactory or limited by the unfavorable side effects. Therefore, radiofrequency catheter ablation (RFCA) has been implemented to treat the drug-refractory VT in ARVD/C for decades. However, the initial understanding of the link between fibro-fatty pathogenesis and ventricular arrhythmogenesis in ARVD/C is scarce, the efficacy and prognosis of endocardial RFCA alone were limited and disappointing. The electrophysiologists had broken through this frontier after better illustration of epicardial substrates and broadly application of epicardial approaches in ARVD/C. In recent works of literature, the application of epicardial ablation also successfully results in higher procedural success and decreases VT recurrences in patients with ARVD/C who are refractory to the endocardial approach during long-term follow-up. In this article, we review the important evolution on the delineation of arrhythmogenic substrates, ablation strategies, and ablation outcome of VT in patients with ARVD/C.

Arrhythmogenic cardiomyopathy with left ventricle involvement/arrhythmogenic left ventricular cardiomyopathy:a clinical and MRI study / 中华放射学杂志

Objective To investigate the characteristics of clinical and cardiovascular magnetic resonance imaging(CMR) of arrhythmogenic cardiomyopathy with left ventricular(ALVC) involvement. Methods Ten cases of arrhythmogenic cardiomyopathy with left ventricular involvement and sixteen randomly chosen cases of arrhythmogenic cardiomyopathy with right ventricular (ARVC) involvement were enrolled in this study. Clinical symptoms, cardiac electrophysiological changes as well as the cardiac morpharage, ventricular functions and delayed enhancement of myocardium assessed by CMR were compared between the two groups. The size of heart chambers, global ventricular functions and the fat/fibrosis infiltration were evaluated by turbo fast spin echo, ture FISP cine and delayed enhancement. These were statistically analyzed by independent samples t test, respectively.Results There was no significant difference in age and gender between two groups. All the patients in two groups presented non-specific clinical manifestations with no significant differences (P>0.05) except for short of breath(P=0.034). The end-diastolic diameter of left ventricular, left ventricular end-diastolic volume index, left and right ejection fraction in ALVC and ARVC group were (64.2±7.7), (49.2±5.9) mm(t=5.551,P<0.001), (113.9±24.0), (69.2± 30.0) ml/m2(t=3.962, P<0.001), (38.5±3.1)%, (56.0±8.4)%(t=-6.733,P<0.001), (42.0±5.5)%, (18.0±7.3)%(t=8.817, P<0.001) respectively. An medium of 11 and 14 segments of fat or fat/fibrosis were found in intramural wall of the LV myocardiumin patients with ALVC,while only 0 segment(all P<0.001)was found in patients with ARVC.Conclusions The clinical manifestations of arrhythmogenic cardiomyopathy with left ventricular involvement was similar to ARVC, however, with regarding to cardiac morphological, functional and myocardial lesions, these two diseases have different characteristics in CMR features.“one-stop-shop”MRI examination has high value in the diagnosis of arrhythmogenic cardiomyopathy with Left ventricular involvement.

Arrhythmogenic right ventricular dysplasia: a rare case report from tribal zone of Central India.

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.

Transvascular Implantation of an Implantable Cardioverter-Defibrillator in a Patient Who has Undergone One-and-a-Half Ventricle Repair

Implantable cardioverter-defibrillator (ICD) therapy is acknowledged as a valid treatment method for the effective prevention of sudden cardiac death, which is a major cause of mortality in adult congenital heart disease patients. But ICD implantation by the conventional transvascular approach is not always possible in patients who have undergone palliative surgery due to congenital and structural heart disease. Here, we report a case in which an ICD was transvascularly implanted in an arrhythmogenic right ventricular cardiomyopathy patient who had undergone a one-and-a-half ventricle repair.

Echocardiographic features of arrhythmogenic right ventricular cardiomyopathy:analysis of misdiagnosis and miss diagnosis / 中华超声影像学杂志

Objective To evaluate the value of echocardiography on the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC),and to improve the diagnositic accuracy of ARVC by echocardiography.Methods According to the 2010 European Heart Association guideline,twenty-one patients with ARVC were diagnosed from September 2003 to June 2014.The patients were divided into four groups (confirmed,suspiciously diagnosis,miss diagonisis,misdiagnosis) and the echocardiographic features were retrospectively analyzed including the right ventricular (RV) movement,the diameter of RV outflow tract (RVOTd),fractional area change of RV (RVFAC),the severity of tricuspid regurgitation (TR) and peak pulmonary artery systolic pressure (PASP).Results Of 21 patients,15 (71.4％) were confirmed by echocardiography,which had the typical ARVC echocardiographic features including the hypokinetic,akinetic or aneurysm of RV,dilation of RVOTd [mean RVOTd (40 ± 3)mm],and RV FAC＜33 ％ [mean (21 ± 7)％].TR were noticed in all the 15 patients but the PASP were normal [mean (27 ± 9)mmHg,1 mmHg =0.133 kPa].Three (14.3％) were suspiciously diagnosed which had the RV wall hypoakinetic,1 with pure RVOTd dilation and 2 with RV and RVOTd dilation,all 3 patients had mild TR,33％＜RVFAC ≤40％ and PASP were in normal range.Two patients had normal echocardiography which was miss diagnosed,one patient was misdiagnosed as dilated cardiomyopathy.Conclusions The different stages of ARVC patients had different echocardiographic features,the patients were easily diagnosed when the ARVC patients in RV failure stage.But for the early and late stage,the diagnosis should combine the clinical manifestation and other imaging facilities to avoid miss diagnosis and misdiagnosis.

Miocardiopatía arritmogénica del ventrículo derecho / Arrytmogenic right ventricular dysplasia

La miocardiopatía arritmogénica del ventrículo derecho es una patología, en la mayoría de los casos de origen genético autosómico dominante caracterizado por el compromiso, tanto morfológico como funcional, del ventrículo derecho en el que se reemplaza el tejido del miocardio normal por tejido fibroadiposo, generando un sustrato arritmogénico. Se debe sospechar en todo paciente joven que presente síncope, taquiarritmia ventricular o paro cardiaco. Su diagnóstico se establece por la sumatoria de criterios que incluyen hallazgos morfológicos, electrocardiográficos y alteraciones funcionales. En la actualidad no hay un tratamiento único establecido; sin embargo, se sigue trabajando en el diagnóstico temprano y el uso de terapias más avanzadas. Se realiza una revisión de la literatura en el contexto de la presentación de un caso clínico diagnosticado en la ciudad de Bucaramanga en un adulto joven de género masculino. MÉD.UIS. 27(3):123-134.

Arrhythmogenic right ventricular dysplasia is a pathology, mostly genetic of dominant autosomic pattern characterized by both morphologic and functional compromise of the right ventricle in which normal myocardial tissue its replaced by fibrous and adipose tissue generating an arrhythmogenic substrate. It must be evaluated in all young patients presenting syncope, ventricular tachyarrhythmia or cardiac arrest. Its diagnosis it's established upon the consideration of morphological criteria, electrocardiographic findings and functional alterations. Currently there is not a definite treatment established; however there is ongoing research in early diagnosis and advanced therapies usage. In this article we provide a literature review in the context of a clinical case diagnosed in a male young adult from the city of Bucaramanga in Colombia. MÉD.UIS. 27(3):123-134.

Multi-slice Spiral CT Manifestations of the Arrhythmogenic Right Ventricular Dysplasia / 中国医学影像学杂志

Purpose To investigate the diagnostic value of the arrhythmogenic right ventricular dysplasia (ARVD) using multi-slice spiral CT (MSCT). Materials and Methods Thirty-four patients who were suspected as ARVD received right ventricular radiography, including 16 ARVD patients and 15 non-ARVD patients regarded as control group. The structural and shaped change of heart on reconstructed images of long axis, short axis and four cavity surface and analyze were observed, and MSCT features of right ventricular radiography characteristics were analyzed for ARVD patients. Results Sixteen cases of ARVD were correctly diagnosed by MSCT, and 14 cases had fatty infiltration including 11 cases of apex of heart, 8 cases of inferior wall, 5 cases of anterior wall, 5 cases of anterior wall of funnel area, 3 cases of diagram, 4 cases of papillary muscle, 6 cases of muscular trabecula and moderator band and 1 case of whole right ventricular free wall. Five cases showed scallop sign, 16 cases excessive trabecular change, 11 cases thinned changes, and 16 cases enlarged changes of right ventricular wall. Conclusion MSCT features of right ventricular for ARVD have relative diagnostic characteristics, and the scallop sign and excessive trabecular change of right ventricular wall are its specific imaging characteristics.

Presentación atípica de miocardiopatía arritmogénica de ventrículo derecho / Atypical presentation of arrhythmogenic right ventricular cardiomyopathy / Apresentação atípica de cardiomiopatia arritmogênica do ventrículo direito

La miocardiopatía/displasia arritmogénica del ventrículo derecho (DAVD) es una patología de base genética y transmisión autosómica dominante, caracterizada por reemplazo del miocardio normal por tejido adiposo o fibroadiposo, siendo causa importante de muerte súbita en jóvenes. La forma de presentación más relevante es la taquicardia ventricular sostenida o no sostenida, y menos frecuentemente la insuficiencia cardíaca (IC). Presentamos un paciente de 53 años que consulta por disnea, constatándose signos de IC en el contexto de una arritmia supraventricular. El ecocardiograma mostró dilatación de cavidades derechas y fue la primera aproximación al diagnóstico de una peculiar presentación de DAVD.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC) is a genetic-based disorder, autosomal dominant transmission, in which normal myocardium is replaced by adipose or fibroadipose tissue. It is thus one of the main causes of sudden cardiac death (SCD) in young people. Sustained ventricular tachycardia (SVT) or nonsustained ventricular tachycardia (NSVT) are common symptoms of this disorder. Heart failure (HF) is a less frequent symptom. This is a clinical case of a 53-year-old patient presenting dyspnea and signs of HF in a context of supraventricular arrhythmia. Echocardiogram showed dilation of right cavities. This was the first approximation towards a diagnosis of this peculiar manifestation of ARVC.

A cardiomiopatia/displasia arritmogênica do ventrículo direito (DAVD) é uma doença de base genética e transmissão autossômica dominante, caracterizada pela substituição do miocárdio normal por tecido adiposo ou fibroadiposo, sendo uma importante causa de morte súbita em pessoas jovens. O estilo mais significativo é a taquicardia ventricular sustentada ou não sustentada, e menos freqüentemente insuficiência cardíaca (IC). Relatamos um caso clínico de um paciente de 53 anos de idade consultando para dispnéia, apresentando sinais de IC no contexto de arritmia supraventricular. O ecocardiograma revelou dilatação de câmaras direitas e foi a primeira abordagem para o diagnóstico de uma forma incomum de apresentação de DAVD.

Sudden death due to arrhythmogenic right ventricular dysplasia: A medico-legal case report.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. The prevalence of ARVD/C is estimated as 1:1000 to 1:1250 in the general population. Although it is a relatively uncommon cause of sudden cardiac death, it accounts for up to one fifth of sudden cardiac death in people less than 35 years of age. Clinical presentation of ARVD/C usually consists of arrhythmias of right ventricular origin that include premature ventricular beats, sustained ventricular tachycardia and ventricular fibrillation that can lead to sudden death. The authors present a case of a 26 year old young male, carpenter by occupation, previously healthy, with sudden death. The internal and external postmortem findings were normal except for mild right ventricular hypertrophy. But histo-pathological examination of heart tissues revealed replacement of myocardial tissue with mature fibrofatty tissue. The following medico-legal autopsy case is being reported for its rarity and the importance of histopathology to find out the cause of death.

Displasia arritmogénica del ventrículo derecho: reporte de un caso y revisión de la literatura / Arrhythmogenic right ventricular dysplasia: a case report and review of the literature

La displasia arritmogénica del ventrículo derecho se caracteriza por atrofia y reemplazo fibroso y graso del miocardio, y arritmias ventriculares. Se reporta el caso de una mujer de 54 años que se presentó con choque circulatorio fatal, haciéndose el diagnóstico patológico de displasia arritmogénica del ventrículo derecho. Se discuten las características clínicas, diagnóstico y manejo de esta cardiopatía potencialmente letal y aún poco comprendida

Displasia arritmogênica do ventrículo direito / Arrythmogenic right ventricular dysplasia

A displasia arritmogênica do ventrículo direito (DAVD) é caracterizada pela substituição dos miócitos por tecido fibrogorduroso. Descrita em 1977, é considerada uma doença cardíaca potencialmente letal ainda pouco entendida. Afeta primariamente o ventrículo direito e tem sido associada a arritmias, insuficiência cardíaca e morte súbita. O objetivo deste artigo é descrever o caso clínico de um paciente de 25 anos com síncope associada a extra-sístoles ventriculares e achados de ressonância magnética do coração compatíveis com DAVD.

Arritmogenic right ventricular dysplasia (ARVD) is characterized by the gradual replacement of myocytes by adipose and fibrous tissue. Described in 1977, is considered a potentially lethal cause of cardiac disease poorly understood. This disorder usually involves the right ventricle and has been associated with arrthymia, heart failure, and sudden death. In this paper, we report a case of a 25-years-old patient with syncope associated with ventricular extrasystoles. A magnetic resonance imaging was performed and showed findings that support ARVD diagnose.