RESUMO
BACKGROUND: Danon disease is a rare X-linked storage disorder characterized by hypertrophic cardiomyopathy leading to arrhythmias and heart failure. A preexcitation pattern on electrocardiogram (ECG) has been described in these patients, however, invasive studies to distinguish between Wolff-Parkinson-White syndrome syndrome and fasciculoventricular pathways (FVP) are limited. OBJECTIVES: The purpose of this study was to delineate the electrophysiological cardiac abnormalities in patients with Danon disease and to describe the presence of FVP in this population. METHODS: We performed a retrospective study of all patients with a confirmed diagnosis of Danon disease presenting to a single center from May 2005 to May 2018. Baseline demographics, clinical characteristics, ECG findings, and electrophysiology study (EPS) results were collected. RESULTS: Ten patients with Danon disease (30% male, average age 17.4 years) were identified. Seven patients (70%) had tachyarrhythmias including five with atrial arrhythmias and six with nonsustained ventricular tachycardia. Preexcitation pattern on ECG was found in four (40%) patients. Of these, two underwent an EPS which confirmed the presence of an FVP. One patient underwent an adenosine challenge which supported a FVP. Implantable cardioverter defibrillator was placed in five patients for primary prevention with no patients receiving an appropriate discharge. Over a follow-up of 5.3 years, five underwent heart transplantation. CONCLUSIONS: This study reports a high incidence of FVP in patients with Danon disease and preexcitation. It underscores an alternate etiology of preexcitation in this population which can potentially be diagnosed without invasive EPS testing. Future multicenter studies are needed to expand this experience.
Assuntos
Feixe Acessório Atrioventricular/etiologia , Arritmias Cardíacas/etiologia , Cardiomiopatia Hipertrófica/etiologia , Doença de Depósito de Glicogênio Tipo IIb/complicações , Feixe Acessório Atrioventricular/diagnóstico , Feixe Acessório Atrioventricular/fisiopatologia , Potenciais de Ação , Adolescente , Adulto , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/fisiopatologia , Arritmias Cardíacas/terapia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/fisiopatologia , Cardiomiopatia Hipertrófica/terapia , Criança , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis , Cardioversão Elétrica/instrumentação , Eletrocardiografia , Técnicas Eletrofisiológicas Cardíacas , Feminino , Predisposição Genética para Doença , Doença de Depósito de Glicogênio Tipo IIb/diagnóstico , Doença de Depósito de Glicogênio Tipo IIb/genética , Doença de Depósito de Glicogênio Tipo IIb/terapia , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/terapia , Frequência Cardíaca , Humanos , Proteína 2 de Membrana Associada ao Lisossomo/genética , Masculino , Mutação , Ohio , Prevenção Primária , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Adulto JovemAssuntos
Potenciais de Ação , Fascículo Atrioventricular/fisiopatologia , Doença de Depósito de Glicogênio Tipo IIb/complicações , Frequência Cardíaca , Ventrículos do Coração/fisiopatologia , Síndromes de Pré-Excitação/etiologia , Adolescente , Estimulação Cardíaca Artificial , Análise Mutacional de DNA , Técnicas Eletrofisiológicas Cardíacas , Doença de Depósito de Glicogênio Tipo IIb/diagnóstico , Doença de Depósito de Glicogênio Tipo IIb/genética , Humanos , Proteína 2 de Membrana Associada ao Lisossomo/genética , Masculino , Mutação , Síndromes de Pré-Excitação/diagnóstico , Síndromes de Pré-Excitação/fisiopatologia , Fatores de Tempo , Adulto JovemRESUMO
AIMS: Different cardiac arrhythmias have been suggested to be associated with Danon disease, e.g. Wolff-Parkinson-White syndrome. However, a systematic electrophysiological investigation of patients with Danon disease is lacking thus far. METHODS AND RESULTS: Seven patients with Danon disease (4 males, 35.8 ± 10.8 years; 3 females, 51.3 ± 19.9 years) from 3 different families were studied. In all patients, the presence of Danon disease was confirmed by western blot of biopsy material or genetic testing. The patients were characterized by 12-lead electrocardiogram (ECG), Holter ECG, echocardiography, and serial implantable cardioverter defibrillator (ICD) interrogations (in ICD recipients). All male patients underwent electrophysiological investigation (EP study). Asymptomatic ventricular tachyarrhythmias were documented in six of the seven patients. Moreover, 5 of the 7 patients suffered from atrial fibrillation (AF), with 1 of them experiencing thromboembolic stroke at the age of 30 years. In male patients, the initial QRS complex was characterized by a slurring upstroke and shortened PQ interval mimicking ventricular pre-excitation. One male patient showed initial QRS complex slurring with prolonged PR interval. However, the presence of an accessory pathway was excluded by an EP study in all patients. In female patients, initial QRS complex slurring was significantly less distinct. In four patients, ICD implantation was performed for primary prevention of sudden cardiac death. However, sustained ventricular arrhythmias were not documented in any of the patients. CONCLUSIONS: The present study indicates that the distinct surface ECG pattern in Danon disease is not associated with ventricular pre-excitation. Atrial fibrillation is frequently observed in these patients and may be associated with thromboembolic events in the young, while sustained ventricular arrhythmias occur less frequently than previously reported.