SUMMARY OBJECTIVE: This study aimed to evaluate the agreement in the indication of implantable cardioverter-defibrillators in patients with Hypertrophic cardiomyopathy, as per the 2014 European Society of Cardiology and 2020 American Heart Association recommendations, and evaluate fragmented QRS as a predictor of cardiovascular outcome. METHODS: Retrospective cohort with 81 patients was evaluated between 2019 and 2021. Patients with hypertrophic cardiomyopathy ≥16 years old were included. Exclusion criteria include secondary myocardiopathy and follow-up <1 year. Kappa coefficient was used to determine the agreement. Survival and incidence curves were determined by Kaplan-Meier method. A p<0.05 was considered significant. RESULTS: The fragmented QRS was identified in 44.4% of patients. There were no differences between patients with and without fragmented QRS regarding clinical parameters, echocardiography, fibrosis, and sudden cardiac death risk. During follow-up of 4.8±3.4 years, there was no sudden cardiac death, but 20.6% patients with implantable cardioverter-defibrillator had at least one appropriate shock. Three of the seven appropriate shocks occurred in European Society of Cardiology low- to moderate-risk patients. Three shocks occurred in moderate-risk patients and four in American Heart Association high-risk patients. Overall recommendations agreement was 64% with a kappa of 0.270 (p=0.007). C-statistic showed no differences regarding the incidence of appropriate shock (p=0.644). CONCLUSION: sudden cardiac death risk stratification algorithms present discrepancies in implantable cardioverter-defibrillator indication, both with low accuracy.

Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos órgãos. Objetivo: realizar a triagem do gene GLA em um grupo de pacientes com diagnóstico ecocardiográfico de cardiomiopatia hipertrófica (CMH). Métodos: estudo transversal realizado com pacientes com CMH em um hospital universitário. Pacientes com doença arterial coronariana e valvopatias foram excluídos. Foi realizada análise de mutação do gene GLA. Em indivíduos do sexo masculino, a análise foi realizada após evidência de baixa atividade de α-Gal A. Resultados: Foram incluídos 60 pacientes com diagnostico ecocardiográfico de CMH. A idade variou de 12 a 85 anos e 60% eram mulheres. O percentual médio de fibrose miocárdica na RM foi 10,7 ± 13,1% e a espessura ventricular média foi 18,7 ± 6,7 mm. Quatro pacientes tinham as seguintes mutações do GLA: c.967C>A (p.Pro323Thr), ainda não descrita na literatura; c.937G>T (p.Asp313Tyr); e c.352C>T (p.Arg118Cys). Todos os pacientes apresentavam níveis normais de liso-Gb3 e fibrose miocárdica não isquêmica na ressonância magnética; um paciente apresentou proteinúria; um paciente apresentou taquicardia ventricular. Conclusão: Neste estudo, a frequência de mutação no gene GLA em pacientes com CMH foi 6,7%. Uma nova mutação no exon 6 do gene GLA, c.967C>A (p.Pro323Thr), foi identificada. Pacientes com CMH podem ter mutações do GLA e a DF deve ser excluída. Os níveis plasmáticos de (liso-Gb3) não parecem ser suficientes para fazer um diagnóstico e biópsia de órgãos deve ser considerada.

Abstract Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. Results: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. Conclusion: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.

OBJETIVO: Avaliar a importância da ecocardiografia sob estresse pela dobutamina (EED) na estratificação de risco de pacientes com angina instável (AI) de baixo a moderado risco, quanto à capacidade de predizer os eventos clínicos combinados (morte de causa cardiovascular, infarto agudo do miocárdio (IAM), AI recorrente, necessidade de revascularização miocárdica) no seguimento de 6 meses. MÉTODOS: Estudo prospectivo, multicêntrico. Os pacientes incluídos estavam internados, assintomáticos havia 24 horas e a medicação em uso não era suspensa para a realização do exame. O EED era realizado preferencialmente até 72 horas da chegada ao hospital. RESULTADOS: Foram avaliados 95 pacientes consecutivos. O EED foi positivo para isquemia em 40 pacientes (42,1%) e em 55 (57,9%), foi negativo. Eventos ocorreram em 28 pacientes, 26 dos quais tinham o EED positivo para isquemia miocárdica. Os outros 67 pacientes não tiveram eventos; desses, 53 tinham o EED negativo. A sensibilidade, especificidade, acurácia, valor preditivo positivo e negativo do teste frente aos desfechos foram: 92,9%, 79,1%, 83,2%, 65% e 96,4%, respectivamente. Sobrevida livre de eventos após 6 meses para os pacientes com EED negativo foi de 96%, comparada com 35% nos que tiveram o EED positivo (p<0,001). A análise univariada identificou classificação da AI, fração de ejeção do VE, índice de movimentação parietal do VE pré e pico, resultado do EED e antecedentes de IAM prévio como fatores prognósticos associados com os desfechos. Somente a variável resultado do EED permaneceu com uma associação significativa com o desfecho através da análise multivariada (p<0,01). CONCLUSÃO: O EED apresentou excelente valor preditivo negativo, permitindo alta hospitalar precoce dos pacientes, sem necessidade de exames adicionais. O resultado do exame foi o único fator prognóstico independente para os eventos.

OBJECTIVE: To evaluate the role of dobutamine stress echocardiography (DSE) in the risk stratification of low to moderate risk unstable angina (UA) patients, to predict the combined clinical outcome of cardiovascular death, myocardial infarction (MI), recurrent UA and the need of revascularization procedures in a 6 month period. METHODS: Multicenter prospective study. Patients should be admitted to the hospital and asymptomatic in the last 24 hours. The exam was performed up to 72 hours from the hospital admission and no medication was stopped prior to the test. RESULTS: Ninety-five consecutive patients were evaluated by DSE. Forty patients (42,1%) had a positive ischemic test and fifty five (57,9%) had a negative one. Clinical events occurred in twenty eight patients, twenty six of whom had a positive test. The rest of the patients (67) did not have clinical events and fifty three of them, had a negative test. The sensibility, specificity, accuracy, positive predictive value and negative predictive value of the test related to the clinical events were: 92,9%, 79,1%, 83,2%, 65% and 96,4%, respectively. Event-free survival after 6 months for pacients with a negative DSE was 96% compared to 35% for those with a positive DSE (p<0,001). The UA classification, left ventricular ejection fraction, rest and peak wall motion score index, DSE result and history of previous MI were associated with the combined end point by univariate analysis. The test result was the only independent predictor of cardiac events by multivariate analysis (p<0.001). CONCLUSION: O DSE has shown an excellent negative predictive value allowing for early hospital discharge without further exams. The positive test result was the only independent predictor for adverse cardiac events.