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Objectives: The study aimed to know the clinical, demographic, diagnostic, and treatments characteristics in patients with cardiomyopathies in Mexico. Methods: The Mexican Registry of Cardiomyopathies (REMEMI) is an observational, prospective and national study of patients with cardiomyopathies, which includes: Dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM) and arrhythmogenic cardiomyopathy of the right ventricle (ARVC). Results: A total of 1026 patients from most states of the Mexican Republic (19) were included, with 494 corresponding to DCM, 490 to HCM, 35 to RCM, and seven to ARVC. We found significant differences between the various cardiomyopathy phenotypes (p < 0.05) in the coexistence with diabetes, use of implantable defibrillator, presence of ventricular tachycardia, and NYHA functional class ≥ 1. There were no significant differences in age and predominant gender between each one. When analyzing by phenotype, we found that patients with HCM have limited use of diagnostic methods considered indispensable, such as cardiac magnetic resonance, Holter monitoring, and genetic testing in patients and their relatives. Conclusion: Seeking contemporary information through observational registries in Mexico is a valuable opportunity to understand the characteristics of the methods used in the study and treatment of diseases such as cardiomyopathies by Mexican physicians. It can provide information for the implementation of management guidelines and strategies to disseminate findings to improve healthcare in our country.

Objetivo: Conocer las características clínicas y demográficas, así como las herramientas diagnósticas y tratamientos utilizados en pacientes con miocardiopatías en México. Métodos: El Registro Mexicano de Miocardiopatías (REMEMI) es un estudio observacional, prospectivo y nacional de pacientes con diagnóstico de miocardiopatía, que incluye: miocardiopatía dilatada (MCD), miocardiopatía hipertrófica (MCH), miocardiopatía restrictiva (MCR) y miocardiopatía arritmogénica del ventrículo derecho (MAVD). Resultados: Se incluyó un total de 1026 pacientes provenientes de la mayoría de los estados de la República Mexicana (19), de los cuales 494 corresponden a MCD, 490 a MCH, 35 a MCR y 7 a MAVD. Encontramos diferencias significativas entre los diversos fenotipos de miocardiopatías (p < 0.05) en la coexistencia con diabetes, empleo de desfibrilador implantable, presencia de taquicardia ventricular y la clase funcional de la NYHA ≥ 1. No hubo diferencias significativas en la edad y sexo predominante entre cada uno. Al analizar por fenotipo encontramos que la MCH tienen poco empleo de métodos diagnósticos considerados como indispensables como la resonancia magnética cardiaca, el monitoreo Holter y el estudio genético en los pacientes y sus familiares. Conclusión: La búsqueda de información contemporánea a través de registros observacionales en México es una buena oportunidad para conocer las características de los métodos empleados en el estudio y tratamiento de enfermedades como las miocardiopatías por médicos mexicanos, y puede ofrecernos información para la implementación de guías de manejo y estrategias de difusión de los hallazgos para así mejorar el cuidado de la salud en nuestro país.

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Isolated apical ventricular hypoplasia is an extremely rare congenital heart disease. We describe 2 cases, each affecting a different side, presenting with unique clinical and imaging characteristics not hitherto delineated in the literature.

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INTRODUCTION: The echocardiographic diagnosis criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC) are highly specific but sensitivity is low, especially in the early stages of the disease. The role of echocardiographic strain in ARVC has not been fully elucidated, although prior studies suggest that it can improve the detection of subtle functional abnormalities. The purposes of the study were to determine whether these advanced measures of right ventricular (RV) dysfunction on echocardiogram, including RV strain, increase diagnostic value for ARVC disease detection and to evaluate the association of echocardiographic parameters with arrhythmic outcomes. METHODS: The study included 28 patients from the Heart Institute of São Paulo ARVC cohort with a definite diagnosis of ARVC established according to the 2010 Task Force Criteria. All patients were submitted to ECHO's advanced techniques including RV strain, and the parameters were compared to prior conventional visual ECHO and CMR. RESULTS: In total, 28 patients were enrolled in order to perform ECHO's advanced techniques. A total of 2/28 (7%) patients died due to a cardiovascular cause, 2/28 (7%) underwent heart transplantation, and 14/28 (50%) patients developed sustained ventricular arrhythmic events. Among ECHO's parameters, RV dilatation, measured by RVDd (p = 0.018) and RVOT PSAX (p = 0.044), was significantly associated with arrhythmic outcomes. RV free wall longitudinal strain < 14.35% in absolute value was associated with arrhythmic outcomes (p = 0.033). CONCLUSION: Our data suggest that ECHO's advanced techniques improve ARVC detection and that abnormal RV strain can be associated with arrhythmic risk stratification. Further studies are necessary to better demonstrate these findings and contribute to risk stratification in ARVC, in addition to other well-known risk markers.

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BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare inherited disease, causes ventricular tachycardia, sudden cardiac death, and heart failure (HF). We investigated ARVC clinical features, genetic findings, natural history, and the occurrence of life-threatening arrhythmic events (LTAEs), HF death, or heart transplantation (HF-death/HTx) to identify risk factors. METHODS: The clinical course of 111 consecutive patients with definite ARVC, predictors of LTAE, HF-death/HTx, and combined events were analyzed in the entire cohort and in a subgroup of 40 patients without sustained ventricular arrhythmia before diagnosis. RESULTS: The 5-year cumulative probability of LTAE was 30% and HF-death/HTx was 10%. Predictors of HF-death/HTx were reduced right ventricle ejection fraction (HR: 0.93; P=0.010), HF symptoms (HR: 4.37; P=0.010), epsilon wave (HR: 4.99; P=0.015), and number of leads with low QRS voltage (HR: 1.28; P=0.001). Each additional lead with low QRS voltage increased the risk of HF-death/HTx by 28%. Predictors of LTAE were prior syncope (HR: 1.81; P=0.040), number of leads with T wave inversion (HR: 1.17; P=0.039), low QRS voltage (HR: 1.12; P=0.021), younger age (HR: 0.97; P=0.006), and prior ventricular arrhythmia/ventricular fibrillation (HR: 2.45; P=0.012). Each additional lead with low QRS voltage increased the risk of LTAE by 17%. In patients without ventricular arrhythmia before clinical diagnosis of ARVC, the number of leads with low QRS voltage (HR: 1.68; P=0.023) was independently associated with HF-death/HTx. CONCLUSIONS: Our study demonstrated the characteristics of a specific cohort with a high prevalence of arrhythmic burden at presentation, male predominance, younger age and HF severe outcomes. Our main results suggest that the presence and extension of low QRS voltage can be a risk predictor for HF-death/HTx in ARVC patients, regardless of the arrhythmic risk. This study can contribute to the global ARVC risk stratification, adding new insights to the international current scientific knowledge.

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BACKGROUND: Genomic screening holds great promise for presymptomatic identification of hidden disease, and prevention of dramatic events, including sudden cardiac death associated with arrhythmogenic cardiomyopathy (ACM). Herein, we present findings from clinical follow-up of carriers of ACM-associated pathogenic/likely pathogenic desmosome variants ascertained through genomic screening. METHODS: Of 64 548 eligible participants in Geisinger MyCode Genomic Screening and Counseling program (2015-present), 92 individuals (0.14%) identified with pathogenic/likely pathogenic desmosome variants by clinical laboratory testing were referred for evaluation. We reviewed preresult medical history, patient-reported family history, and diagnostic testing results to assess both arrhythmogenic right ventricular cardiomyopathy and left-dominant ACM. RESULTS: One carrier had a prior diagnosis of dilated cardiomyopathy with arrhythmia; no other related diagnoses or diagnostic family history criteria were reported. Fifty-nine carriers (64%) had diagnostic testing in follow-up. Excluding the variant, 21/59 carriers satisfied at least one arrhythmogenic right ventricular cardiomyopathy task force criterion, 11 (52%) of whom harbored DSP variants, but only 5 exhibited multiple criteria. Six (10%) carriers demonstrated evidence of left-dominant ACM, including high rates of atypical late gadolinium enhancement by magnetic resonance imaging and nonsustained ventricular tachycardia. Two individuals received new cardiomyopathy diagnoses and received defibrillators for primary prevention. CONCLUSIONS: Genomic screening for pathogenic/likely pathogenic variants in desmosome genes can uncover both left- and right-dominant ACM. Findings of overt cardiomyopathy were limited but were most common in DSP-variant carriers and notably absent in PKP2-variant carriers. Consideration of the pathogenic/likely pathogenic variant as a major criterion for diagnosis is inappropriate in the setting of genomic screening.

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ABSTRACT Arrhythmogenic right ventricular cardiomyopathy is a rare heart-muscle disorder characterized by progressive replacement of right ventricular myocardium by fibrofatty tissue. Noncompaction of the ventricular myocardium is also rare congenital cardiomyopathy, characterized by an arrest in intrauterine endomyocardial morphogenesis. We present an extremely rare patient who presented with incessant ventricular tachycardia and who had both of these two cardiomyopathies at the same time.

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BACKGROUND AND OBJECTIVES: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiomyopathy characterized by potentially lethal ventricular tachycardia. Here we describe a patient with ARVC and an Implantable Cardioverter Defibrillator (ICD) in whom maxillary sinus surgery was performed under general anesthesia. CASE REPORT: The patient was a 59 year-old man who was scheduled to undergo maxillary sinus surgery under general anesthesia. He had been diagnosed as having ARVC 15 years earlier and had undergone implantation of an ICD in the same year. Electrocardiography showed an epsilon wave in leads II, aVR, and V1-V3. Cardiac function was within normal range on transthoracic echocardiography. The ICD was temporarily deactivated after the patient arrived in the operating room and an intravenous line was secured. An external defibrillator was kept on hand for immediate defibrillation if any electrocardiographic abnormality was detected. Remifentanil 0.3 µg/kg/min, fentanyl 0.1 mg, propofol 154 mg, and rocuronium 46 mg were administered for induction of anesthesia. Tracheal intubation was performed orally. Anesthesia was maintained oxygen 1.0 L.min-1, air 2.0 L.min-1, propofol 5.0-7.0 mg.kg-1.h-1, and remifentanil 0.1-0.25 µg.kg-1.min-1. The surgery was completed as scheduled and the ICD was reactivated. The patient was then extubated after administration of sugammadex 200 mg. CONCLUSION: We report the successful management of anesthesia without lethal arrhythmia in a patient with ARVC and an ICD. An adequate amount of analgesia should be administered during general anesthesia to maintain adequate anesthetic depth and to avoid stress and pain.

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Abstract Background and objectives: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiomyopathy characterized by potentially lethal ventricular tachycardia. Here we describe a patient with ARVC and an Implantable Cardioverter Defibrillator (ICD) in whom maxillary sinus surgery was performed under general anesthesia. Case report: The patient was a 59 year-old man who was scheduled to undergo maxillary sinus surgery under general anesthesia. He had been diagnosed as having ARVC 15 years earlier and had undergone implantation of an ICD in the same year. Electrocardiography showed an epsilon wave in leads II, aVR, and V1-V3. Cardiac function was within normal range on transthoracic echocardiography. The ICD was temporarily deactivated after the patient arrived in the operating room and an intravenous line was secured. An external defibrillator was kept on hand for immediate defibrillation if any electrocardiographic abnormality was detected. Remifentanil 0.3 µg/kg/min, fentanyl 0.1 mg, propofol 154 mg, and rocuronium 46 mg were administered for induction of anesthesia. Tracheal intubation was performed orally. Anesthesia was maintained oxygen 1.0 L.min−1, air 2.0 L.min−1, propofol 5.0-7.0 mg.kg−1.h−1, and remifentanil 0.1-0.25 µg.kg−1.min−1. The surgery was completed as scheduled and the ICD was reactivated. The patient was then extubated after administration of sugammadex 200 mg. Conclusion: We report the successful management of anesthesia without lethal arrhythmia in a patient with ARVC and an ICD. An adequate amount of analgesia should be administered during general anesthesia to maintain adequate anesthetic depth and to avoid stress and pain.

Resumo Introdução e objetivo: A Cardiomiopatia Arritmogênica do Ventrículo Direito (CAVD) é uma cardiomiopatia genética caracterizada por taquicardia ventricular potencialmente letal. Descrevemos um paciente com CAVD com Cardioversor Desfibrilador Implantável (CDI) submetido a anestesia geral para cirurgia de seio maxilar. Relato do caso: Paciente masculino, 59 anos, a ser submetido a anestesia geral para cirurgia de seio maxilar. O paciente foi diagnosticado com CAVD há 15 anos, momento em que foi submetido a implante de CDI. A eletrocardiografia mostrou onda épsilon nas derivações II, aVR e V1-V3. O ecocardiograma transtorácico revelou função cardíaca normal. Após a entrada do paciente na sala de cirurgia, o CDI foi temporariamente desativado e uma via intravenosa foi instalada. Um desfibrilador externo foi mantido próximo ao paciente caso fosse detectada alguma anormalidade eletrocardiográfica que indicasse desfibrilação do paciente. Foram administrados 0,3 mg/kg/min de remifentanil, 0,1 mg de fentanil, 154 mg de propofol e 46 mg de rocurônio para indução da anestesia. A intubação traqueal foi realizada por via oral. A anestesia foi mantida com 1 L/min de oxigênio, 2 L/min de ar, 5-7 mg/kg/h de propofol e 0,1-0,25 µg/kg/min de remifentanil. O procedimento cirúrgico proposto foi concluído e o CDI foi reativado. O tubo traqueal foi retirado após administração de 200 mg de sugamadex. Conclusão: Descrevemos técnica de anestesia bem sucedida sem arritmia letal em paciente com CAVD e CDI. Analgesia adequada deve ser administrada durante a anestesia geral para manter profundidade anestésica correta e evitar estresse e dor.

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Resumen: La miocardiopatía arritmogénica del ventrículo derecho es una patología de origen genético cuya base molecular se encuentra a nivel de los desmosomas, caracterizada por una sustitución progresiva de los miocitos del ventrículo derecho por tejido graso, que conduce a arritmias potencialmente graves y disfunción miocárdica. Es causa de muerte súbita asociada al ejercicio. Es rara la aparición de síntomas antes de los 10 años de edad, lo que obliga a un alto grado de sospecha clínica. Existe afectación familiar hasta en el 50% de los casos, por lo que el estudio en cascada está recomendado y constituye un criterio mayor de enfermedad. Se cree que esta investigación es la forma más frecuente de pesquisa en pediatría, junto con la realización de un electrocardiograma como parte del screening preparticipativo en competencia deportiva. Se debe sospechar ante la objetivación de taquicardia ventricular con imagen de bloqueo de rama izquierda. Las alteraciones clásicas descritas en el ecocardiograma o la resonancia magnética son raras en niños, y deben considerarse las anomalías segmentarias en estas técnicas. La estratificación de riesgo ha debido ser extrapolada de los estudios realizados en adultos, y de acuerdo a esto se debe decidir la pertinencia de la instalación de un desfibrilador automático implantable, sobre todo en caso de muerte súbita cardíaca recuperada o taquicardia ventricular sostenida. La pertinencia del uso de fármacos debe analizarse individualmente. En los casos de diagnóstico definitivo, se debe abolir el ejercicio intensivo, recomendándose solo la actividad física de baja intensidad.

Summary: Arrhythmogenic right ventricle cardiomyopathy is a disease of genetic origin, whose molecular basis is at the level of desmosomes, characterized by a progressive replacement of right ventricle myocytes by fatty tissue, which leads to potentially serious arrhythmias and myocardial dysfunction. It is a cause of sudden death associated with exercise. The appearance of symptoms before 10 years old is rare, which compels a high degree of clinical suspicion. In more than 50% of cases there is a family history of those affected, so the cascade study of the probands is recommended (major criterion of disease). In pediatrics, it is believed that most often is that patients are investigated by this ground, as well among asymptomatic children in whom an electrocardiogram is performed as part of the screening of sports competition. One should suspect arrhythmogenic right ventricle cardiomyopathy with ventricular tachycardia with appearance of left bundle branch block. Classical alterations described in echocardiography or magnetic resonance imaging are rare in children, and segmental abnormalities in these techniques should be considered. The stratification of risk has been extrapolated from the studies of elderly patients, and according to this, the indication of an implantable cardioverter defibrillator must be decided, especially in case of sudden cardiac death recovered or sustained ventricular tachycardia. The relevance of the use of drugs must be individually analyzed. In definite cases, intensive exercises should be abolished, recommending only those of low intensity.

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La miocardiopatía arritmogénica, también conocida como displasia arritmogénica del ventrículo derecho (DAVD), es una enfermedad miocárdica de causa desconocida que se caracteriza histopatológicamente por el reemplazo progresivo del miocardio del ventrículo derecho por tejido adiposo o fibroadiposo. Tal diagnóstico es de interés en el campo de la medicina legal, debido a que constituye una de las principales causas de muerte súbita en personas jóvenes. Por tal motivo, se hace imprescindible el conocimiento de tal patología para su preciso diagnóstico como causa de muerte. En este artículo se expone un caso valorado en la Sección de Patología Forense del Departamento de Medicina Legal de Costa Rica.

Arrhythmogenic cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia (ARVD) is a myocardial disease of unknown cause that is histologically characterized by progressive replacement of right ventricular myocardium by fatty or fibro-fatty tissue. Such a diagnosis is of interest in the field of forensic medicine, because it is one of the leading causes of sudden death in young people. Therefore, it is essential knowledge of such pathology for accurate diagnosis and cause of death. In this article a case worth Forensic Pathology Section, Department of Legal Medicine of Costa Rica is exposed.

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