RESUMEN

OBJECTIVES: Arrhythmogenic cardiomyopathy (ACM) is a complex cardiac disorder associated with ventricular arrhythmias. Understanding the relationship between mechanical uncoupling and cardiac structural changes in ACM patients is crucial for improved risk stratification and management. METHODS: In this study, we enrolled 25 ACM patients (median age 34 years, 72% men) based on the 2019 Modified Task Force and Padua criteria. Patients were categorized by the presence or absence of clinically relevant ventricular tachycardia (crVT), necessitating emergency interventions. Right ventricular-arterial coupling (VAC) was assessed using echocardiography. Low-rank regression splines were employed to model left ventricular ejection fraction (LVEF) and right ventricular ejection fraction (RVEF) in relation to VAC. RESULTS: Positive associations were observed between VAC and LVEF (ρ = 0.472, p = 0.023), RVEF (ρ = 0.522, p = 0.038), and right ventricular (RV) indexed stroke volume (ρ = 0.79, p < 0.001). Patients with crVT exhibited correlations with RV shortening, reduced RVEF (39.6 vs. 32.2%, p = 0.025), increased left ventricular (LV) mass (38.99 vs. 45.55, p = 0.045), and LV end-diastolic volume (LVEDV) (56.99 vs. 68.15 mL/m2, p = 0.045). Positive associations for VAC were noted with LVEDV (p = 0.039) and LV mass (p = 0.039), while negative correlations were observed with RVEF by CMR (p = 0.023) and RV shortening by echocardiography (p = 0.026). CONCLUSIONS: Our findings underscore the significance of right VAC in ACM, demonstrating correlations with RV and LVEF, RV stroke volume, and clinically relevant arrhythmias. Insights into RVEF, LV mass, and end-diastolic volume provide valuable contributions to the understanding of ACM pathophysiology and may inform risk assessment strategies.

OBJETIVOS: La miocardiopatía arritmogénica (MCA) es un trastorno cardíaco complejo asociado con arritmias ventriculares (AV). Comprender la relación entre el desacoplamiento mecánico y los cambios estructurales cardíacos en pacientes con MCA es crucial para una estratificación de riesgos y una gestión mejorada. MÉTODOS: En este estudio, reclutamos a 25 pacientes con MCA (edad media 34 años, 72% hombres) basándonos en los criterios del Task Force 2019 y los criterios de Padua. Los pacientes se clasificaron según la presencia o ausencia de taquicardia ventricular clínicamente relevante (crVT), que requería intervenciones de emergencia. Se evaluó el acoplamiento ventricular derecho-arterial (VAC) mediante ecocardiografía. Se utilizaron low-rank regression splines para modelar la fracción de eyección del ventrículo izquierdo (FEVI) y la fracción de eyección del ventrículo derecho (FEVD) en relación con el VAC. RESULTADOS: Se observaron asociaciones positivas entre el VAC y la FEVI (ρ = 0.472, p = 0.023), la FEVD (ρ = 0.522, p = 0.038) y el volumen de eyección indexado del ventrículo derecho (ρ = 0.79, p < 0.001). Los pacientes con crVT mostraron correlaciones con acortamiento del ventrículo derecho, disminución de la FEVD (39.6 vs. 32.2%, p = 0.025), aumento de la masa ventricular izquierda (38.99 vs. 45.55, p = 0.045) y volumen diastólico final del ventrículo izquierdo (VDVI) (56.99 vs. 68.15 mL/m2, p = 0.045). Se observaron asociaciones positivas para el VAC con el VDVI (p = 0.039) y la masa ventricular izquierda (p = 0.039), mientras que se observaron correlaciones negativas con la FEVD por RMC (p = 0.023) y el acortamiento del ventrículo derecho por ecocardiografía (p = 0.026). CONCLUSIONES: Nuestros hallazgos subrayan la importancia del VAC derecho en la MCA, demostrando correlaciones con la FEVD y FEVI, el volumen de eyección del ventrículo derecho y arritmias clínicamente relevantes. Las percepciones sobre la FEVD, la masa ventricular izquierda y el volumen diastólico final proporcionan contribuciones valiosas para comprender la fisiopatología de la MCA y pueden informar estrategias de evaluación de riesgos.

Asunto(s)

RESUMEN

The case of a 49-year-old man with acute onset of heart failure is presented. The initial work-up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction. In the differential diagnostic process, hypertensive, ischaemic, and valvular aetiologies were discarded. Subsequently, a cardiac magnetic resonance revealed global hypokinesis and inferior and anterior subepicardial fibrosis. Once differential diagnoses of subepicardial fibrosis (myocarditis, sarcoidosis, and Chagas disease) were discarded, a genetic panel was performed, resulting in a heterozygous mutation of desmoplakin (DSP) gene c.6697_6698del. A left-dominant DSP arrhythmogenic cardiomyopathy mutation was diagnosed. Structural myocardial abnormalities and ventricular arrhythmias characterize arrhythmogenic cardiomyopathy. Up to 50% of cases are associated with mutations in DSP genes (JUP, DSP, and PKP2). DSP is the fundamental component of the desmosome structure and provides structural support through intercellular adhesion. Therefore, when frequent differential diagnoses are discarded, genetic studies for dilated cardiomyopathy and DSP mutation should be considered.

RESUMEN

BACKGROUND: Clinical and molecular diagnosis of inherited cardiac conditions is key to find at-risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac conditions. METHODS: Next-generation sequencing (Illumina platform) using a 231 gene panel was performed in blood samples of 25 unrelated patients with age disease onset between 9 and 55 years. RESULTS: Genetic testing yield was 52%. Two novel likely pathogenic/ pathogenic variants were found: a DSP nonsense variant in a patient with arrhythmogenic cardiomyopathy and a KCNE1 frameshift variant in two patients with long QT syndrome. Younger individuals (<18 years) had the highest genetic testing yield (66.6%) compared to 50% and 20% in young adults and patients over 40 years, respectively. All subjects affected with long QT syndrome with a severe event while exercising had a positive genetic test. They also had four times more loss of consciousness events and, resuscitated sudden cardiac arrest was more representative. CONCLUSION: This study is the first one undertaken in Colombia to evaluate inherited cardiac conditions. It highlights the need to perform mutational analysis to provide adequate genetic counseling and to be able to identify patients at risk of severe events.

Asunto(s)

RESUMEN

Background: In human medicine, arrhythmogenic left ventricular cardiomyopathy was described as a primary disease of the heart characterized by fibroadipose replacement of the myocardium.. Case Description: We report the case of a dog, with history of syncope and irregular cardiac rhythm. Electrocardiogram, echocardiography, and a 24-hour Holter monitoring showed, respectively, the presence of premature ventricular complexes with right bundle branch block morphology, an increase of the left ventricle end-diastolic diameter with preserved fractional shortening and ejection fraction, and a sinus arrhythmia as baseline rhythm with supraventricular tachycardia episodes and ventricular complexes with left bundle branch block morphology. After the death of the canine, a postmortem examination showed cardiomegaly. Fibroadipose replacement of the septum and both ventricles, with left ventricle myocardial fibrosis, suggestive of previous necrosis, was observed. Conclusion: These findings are suggestive of left-dominant arrhythmogenic cardiomyopathy which, to the best of our knowledge, has not been described in veterinary medicine.

Asunto(s)

RESUMEN

Left ventricular involvement in the advanced stage of arrhythmogenic cardiomyopathy (AC) is an evolution of this desmosomopathy. Mutation in intercalated discs explains the phenotypic variability. Abnormal trafficking of the intercalated discs at the site of end-to-end contacts between cardiomyocytes and the canonical Wnt/ß-catenin and Hippo signaling pathways have been implicated. In AC, T-wave inversion in lateral leads is the hallmark of left ventricular (LV) involvement. We herein report a case of isolated LV AC in which the initial ECG has typical features: fragmented QRS (fQRS), Twave inversion (TWI) in lateral leads, and ventricular tachycardia from inferobasal LV wall.

Asunto(s)

RESUMEN

A cardiomiopatia arritmogênica do ventrículo direito (CAVD) é uma importante causa de morte súbita em cães da raça Boxer. A validação de fatores prognósticos para essa doença auxiliaria na detecção de animais mais gravemente afetados e sua exclusão dos programas de reprodução. O objetivo deste estudo foi avaliar o valor prognóstico da presença de manifestações clínicas, dos índices de variabilidade de frequência cardíaca (VFC) e das arritmias supraventriculares ou ventriculares registradas à monitorização eletrocardiográfica com Holter na sobrevida de cães Boxer em diferentes estágios da CAVD. Essas variáveis foram analisadas, de forma prospectiva, em 69 cães Boxer, divididos em cinco grupos: cães Boxer controle (grupo CB, <50 VPC/24 horas, n=28), cães Boxer suspeitos (grupo SB, 50 a 300 VPC/24 horas, n=8), cães Boxer com CAVD (grupo ARVC, >300 VPC/24 horas, n=19), cães Boxer com CAVD e disfunção sistólica sem insuficiência cardíaca congestiva (grupo SDB sem ICC, n=6) e com ICC (grupo SDB com ICC, n=8). A análise estatística compreendeu teste ANOVA, correlação de Pearson e análise de riscos proporcionais de Cox. Comparando-se com o grupo CB, não foi encontrada diminuição nos índices de VFC nos grupos SB, ARVC ou SDB sem ICC; por outro lado, o grupo SDB com ICC apresentou diminuição desses índices. Não houve relação entre os índices de VFC e a morte de origem cardíaca; porém, a presença de síncopes com ou sem sinais clínicos de ICC e o número de episódios de taquicardia ventricular (TV) correlacionaram-se com a sobrevida dos animais. Estes resultados permitem concluir que a presença de sinais clínicos de ICC, a presença de síncopes e o número de TV ao Holter apresentam valor prognóstico de sobrevida em cães Boxer com CAVD.(AU)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an important cause of sudden death in Boxer dogs. Validation of prognostic factors for this disease could help in detecting more severely affected animals and their exclusion from breeding programs. The aims of this study were to evaluate the prognostic significance of presence of symptoms, heart rate variability (HRV) indices and ventricular or supraventricular arrhythmias recorded by Holter monitoring on survival of Boxer dogs with ARVC at different stages. Symptoms, arrhythmias registered on Holter and five HRV indices were prospectively analyzed in 69 client-owned Boxer dogs divided into five groups: control Boxer dogs (CB group, <50 VPC/24 hours, n=28), suspicious Boxers (SB group, 50 to 300 VPC/24 hours, n=8), Boxers with ARVC (ARVC group, >300 VPC/24 hours, n=19), Boxers with ARVC and systolic dysfunction without congestive heart failure (SDB without CHF group, n=6) and with CHF (SDB with CHF group, n=8). Statistical analyses consisted of an ANOVA test, Pearson correlation and Cox's proportional hazards regression. Compared to the CB group, no decrease in HRV indices was found in SB, ARVCB or SDB without CHF groups; otherwise, SDB with CHF group had impaired indices. No relation was found between HRV indices and cardiac-related death, but the presence of syncopes with or without clinical signs of heart failure and number of ventricular tachycardia (VT), were correlated with survival. These results allow us to conclude that the presence of symptoms of heart failure, presence of syncopes and number of VT on Holter examination seem to have prognostic value in Boxer ARVC.(AU)

Asunto(s)

RESUMEN

A cardiomiopatia arritmogênica do ventrículo direito (CAVD) é uma importante causa de morte súbita em cães da raça Boxer. A validação de fatores prognósticos para essa doença auxiliaria na detecção de animais mais gravemente afetados e sua exclusão dos programas de reprodução. O objetivo deste estudo foi avaliar o valor prognóstico da presença de manifestações clínicas, dos índices de variabilidade de frequência cardíaca (VFC) e das arritmias supraventriculares ou ventriculares registradas à monitorização eletrocardiográfica com Holter na sobrevida de cães Boxer em diferentes estágios da CAVD. Essas variáveis foram analisadas, de forma prospectiva, em 69 cães Boxer, divididos em cinco grupos: cães Boxer controle (grupo CB, <50 VPC/24 horas, n=28), cães Boxer suspeitos (grupo SB, 50 a 300 VPC/24 horas, n=8), cães Boxer com CAVD (grupo ARVC, >300 VPC/24 horas, n=19), cães Boxer com CAVD e disfunção sistólica sem insuficiência cardíaca congestiva (grupo SDB sem ICC, n=6) e com ICC (grupo SDB com ICC, n=8). A análise estatística compreendeu teste ANOVA, correlação de Pearson e análise de riscos proporcionais de Cox. Comparando-se com o grupo CB, não foi encontrada diminuição nos índices de VFC nos grupos SB, ARVC ou SDB sem ICC; por outro lado, o grupo SDB com ICC apresentou diminuição desses índices. Não houve relação entre os índices de VFC e a morte de origem cardíaca; porém, a presença de síncopes com ou sem sinais clínicos de ICC e o número de episódios de taquicardia ventricular (TV) correlacionaram-se com a sobrevida dos animais. Estes resultados permitem concluir que a presença de sinais clínicos de ICC, a presença de síncopes e o número de TV ao Holter apresentam valor prognóstico de sobrevida em cães Boxer com CAVD.(AU)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an important cause of sudden death in Boxer dogs. Validation of prognostic factors for this disease could help in detecting more severely affected animals and their exclusion from breeding programs. The aims of this study were to evaluate the prognostic significance of presence of symptoms, heart rate variability (HRV) indices and ventricular or supraventricular arrhythmias recorded by Holter monitoring on survival of Boxer dogs with ARVC at different stages. Symptoms, arrhythmias registered on Holter and five HRV indices were prospectively analyzed in 69 client-owned Boxer dogs divided into five groups: control Boxer dogs (CB group, <50 VPC/24 hours, n=28), suspicious Boxers (SB group, 50 to 300 VPC/24 hours, n=8), Boxers with ARVC (ARVC group, >300 VPC/24 hours, n=19), Boxers with ARVC and systolic dysfunction without congestive heart failure (SDB without CHF group, n=6) and with CHF (SDB with CHF group, n=8). Statistical analyses consisted of an ANOVA test, Pearson correlation and Cox's proportional hazards regression. Compared to the CB group, no decrease in HRV indices was found in SB, ARVCB or SDB without CHF groups; otherwise, SDB with CHF group had impaired indices. No relation was found between HRV indices and cardiac-related death, but the presence of syncopes with or without clinical signs of heart failure and number of ventricular tachycardia (VT), were correlated with survival. These results allow us to conclude that the presence of symptoms of heart failure, presence of syncopes and number of VT on Holter examination seem to have prognostic value in Boxer ARVC.(AU)

Asunto(s)

RESUMEN

Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City.

Los síndromes hereditarios de muerte súbita cardíaca comprenden una amplia gama de enfermedades resultantes de la alteración en los canales iónicos cardíacos. Los genes implicados en estos síndromes presentan mutaciones que causan alteraciones de las diversas proteínas que constituyen estos canales y que, por lo tanto, afectan directamente a las diferentes corrientes iónicas. En el presente artículo se revisa brevemente la forma de llegar a un diagnóstico clínico de dichos síndromes y se presentan los resultados de los estudios genéticos moleculares realizados en sujetos mexicanos que asisten a la Clínica de Síndromes Hereditarios de Muerte Súbita del Instituto Nacional de Cardiología Ignacio Chávez.

Asunto(s)

RESUMEN

Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City.

Asunto(s)

RESUMEN

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

Asunto(s)