Sudden death in high performance athlete with bradycardia and SCN5A gene mutation

INTRODUCTION: Sinus bradycardia (SB) at rest is considered normal in athletes and is determined by intrinsic heart rate (HR) reduction and modulations of the autonomic system. However, the possibility of progressive degeneration in association with genetic mutations that determine rhythm alterations should make the marked and persistent BS to be better investigated. CASE REPORT: Marathon runner, 28 years, SB with HR < 30 bpm associated with first degree atrioventricular block (AVB) and left ventricular hypertrophy (LVH). Diagnosed with atrial flutter (AF) during a period of high-intensity training, which was treated with ablation. After 16 years of follow-up, he had an ischemic stroke (IS), treated with trombolisys, without neurologic sequelae. After developed episodes of sudden loss of consciousness, which was attributed to seizures resulting from the IS. However, the SB with pauses persisted, despite the improvement in the (LVH) pattern. HOLTER showed HR 36-48-80 bpm, BS rhythm, alternating with atrial ectopic rhythm, episodes of type I 2nd degree AVB and pauses of up to 2.7s. TILT-TEST with marked SB, 1st degree AVB and junctional escape, with accentuation of bradycardia and prolonged pauses to orthostasis, without HR response to sensitization with vasodilator, as well as with atropine. Suspecting genetic mutations that cause hereditary primary electrical diseases, a genetic test was collected. However, the patient had sudden death during sleep, before the result, which revealed a mutation of the SCN5A gene. DISCUSSION: SB, prevalent in athletes, may be accompanied by AVB of varying degrees. In this case, in addition to marked bradycardia, the patient had AF. Despite the causal relationship between mutations in the SCN5A gene and the Brugada Syndrome phenotype, there are atypical clinical manifestations that include, in addition to the set of signs and symptoms of Brugada syndrome, AF, sinus node dysfunction, long QT syndrome, dilated cardiomyopathy , and others. Carriers of SCN5A mutations linked to Brugada syndrome or progressive cardiac conduction system degeneration are at increased risk of sudden death. CONCLUSION: Marked bradycardia in athletes should be investigated and the association with channelopathies leads to phenotypes with aberrant rhythms and progressive degeneration of the cardiac conduction system, which can determine fatal arrhythmias.

Home-based training program in patients with chronic heart failure and reduced ejection fraction: a randomized pilot study.

OBJECTIVES: We aimed to compare the effects of home-and center-based exercise training programs on functional capacity, inspiratory muscle strength, daily physical activity level, and quality of life (QoL) in patients with chronic heart failure (CHF) over a 12-week period. METHODS: This study included 23 patients with CHF (left ventricular ejection fraction 31±6%) randomized to a home-based (n=11) or center-based (n=12) program. Patients underwent 12 weeks of aerobic training (60%-70% heart rate reserve): walking for the home-based and supervised cycling for the center-based group, both combined with resistance training (50% of 1 maximum repetition). At baseline and after 12 weeks of training, we assessed cardiopulmonary test variables, 6-min walk test distance (6 MWD), steps/day with accelerometry, and QoL (Minnesota Living with Heart Failure questionnaire). Maximal inspiratory pressure and handgrip strength were measured at baseline and after 4, 8, and 12 weeks of training. ClinicalTrials.gov: NCT03615157. RESULTS: There were no adverse events during training in either group. The home- and center-based training groups obtained similar improvements in peak oxygen uptake, maximal ventilation, and 6 MWD. However, there were significant between-group differences: center-based training was more effective in improving maximal inspiratory pressure (p=0.042), number of steps/day (p=0.001), and QoL (p=0.039). CONCLUSIONS: Home-based training is safe and can be an alternative to improve the exercise capacity of patients with stable CHF. However, center-based training was superior in improving inspiratory muscle strength, QoL, and daily physical activity.

Home-based training program in patients with chronic heart failure and reduced ejection fraction: a randomized pilot study

OBJECTIVES: We aimed to compare the effects of home-and center-based exercise training programs on functional capacity, inspiratory muscle strength, daily physical activity level, and quality of life (QoL) in patients with chronic heart failure (CHF) over a 12-week period. METHODS: This study included 23 patients with CHF (left ventricular ejection fraction 31±6%) randomized to a home-based (n=11) or center-based (n=12) program. Patients underwent 12 weeks of aerobic training (60%-70% heart rate reserve): walking for the home-based and supervised cycling for the center-based group, both combined with resistance training (50% of 1 maximum repetition). At baseline and after 12 weeks of training, we assessed cardiopulmonary test variables, 6-min walk test distance (6 MWD), steps/day with accelerometry, and QoL (Minnesota Living with Heart Failure questionnaire). Maximal inspiratory pressure and handgrip strength were measured at baseline and after 4, 8, and 12 weeks of training. ClinicalTrials.gov: NCT03615157. RESULTS: There were no adverse events during training in either group. The home- and center-based training groups obtained similar improvements in peak oxygen uptake, maximal ventilation, and 6 MWD. However, there were significant between-group differences: center-based training was more effective in improving maximal inspiratory pressure (p=0.042), number of steps/day (p=0.001), and QoL (p=0.039). CONCLUSIONS: Home-based training is safe and can be an alternative to improve the exercise capacity of patients with stable CHF. However, center-based training was superior in improving inspiratory muscle strength, QoL, and daily physical activity.

Efeitos de um programa de treinamento domiciliar sobre a capacidade funcional e qualidade de vida de pacientes com insuficiência cardíaca crônica / Effects of a home training program on the functional capacity and quality of life of patients with chronic heart failure

INTRODUÇÃO: O treinamento físico melhora a capacidade funcional e a qualidade de vida em pacientes com insuficiência cardíaca crônica (IC). Entretanto, devido à baixa disponibilidade de centros de reabilitação cardíaca e limitações pessoais (custos de transporte, tempo, preferências), a inclusão e a adesão ao treinamento físico supervisionado são baixas, sendo proposto o treinamento domiciliar como alternativa. OBJETIVO: Comparar os efeitos de dois programas de treinamento: um domiciliar e um supervisionado ao longo de 12 semanas sobre a capacidade funcional, atividade física diária e qualidade de vida em pacientes com IC. MÉTODOS: Foram incluídos 23 pacientes com IC (classe funcional NYHA II e III, fração de ejeção do ventrículo esquerdo ≤40%) randomizados em Grupo Domiciliar (GD, n=11) ou Grupo Supervisionado (GS, n=12). Os pacientes realizaram, ao longo de 12 semanas exercícios aeróbios (60-70% da frequência cardíaca de reserva): caminhada para o GD e cicloergômetro para o GS combinados a exercícios resistidos (50% de uma repetição máxima). As variáveis-desfecho foram: pico de consumo de oxigênio e ventilação máxima do teste cardiopulmonar, distância percorrida no teste da caminhada de seis minutos, força muscular do quadríceps, pressão inspiratória máxima, número de passos/dia e qualidade de vida. RESULTADOS: Após 12 semanas,GD e GS apresentaram aumentos significantes (p=0,025) no pico de consumo de oxigênio (0,8 e 3,7 ml/kg/min, respectivamente), na ventilação máxima (11,5 e 15,6 l/min, respectivamente), na distância percorrida (40 e 25 m, respectivamente), na porcentagem de força muscular do quadríceps (21% e 11%, respectivamente) e na qualidade de vida avaliada por meio do questionário Minnesota Living with Heart Failure (1 e 13, respectivamente), sem diferenças entre GD e GS. Entretanto, o GS mostrou melhora na força muscular inspiratória (p=0,042), aumento no número de passos/dia (p=0,001) e no componente de saúde mental do questionário SF-36 (p=0,001) superior ao GD. CONCLUSÕES: O treinamento domiciliar pode ser uma alternativa ao treinamento supervisionado para melhorar a capacidade funcional e a qualidade de vida em pacientes com IC. Além desses benefícios, o treinamento supervisionado foi superior em aumentar a força muscular inspiratória, o número de passos/dia e melhorar os aspectos de saúde mental em pacientes com IC. (AU)

Circulaçäo assistida como ponte para transplante cardiaco / Assisted circulation like bridged to heart transplantation

O presente estudo relata a experiencia do InCor-FMUSP na utilizaçäo de suporte circulatório mecânico como ponte para transplante cardiaco, totalizando três casos. A ponte para transplante cardiaco por meio de dispositivo de assistência circulatoria mecânica consiste num modo de aumentar a sobrevida dos pacientes que esperam por um transplante cardiaco e ainda e pouco empregada em nosso pais