RESUMO
BACKGROUND: The ECG, clinical, and electrophysiologic profiles of patients with a fasciculoventricular pathway are well described. Fasciculoventricular pathways occurring in the setting of glycogen storage cardiomyopathy possess unique features. OBJECTIVE: The purpose of this study was to compare the clinical, ECG, and electrophysiologic characteristics of patients with a fasciculoventricular pathway, with or without glycogen storage cardiomyopathy. METHODS: Two groups of patients with a fasciculoventricular pathway were compared: group A consisted of 10 patients with the PRKAG2 mutation (Arg302gln), and group B consisted of 9 patients without the mutation. RESULTS: Thirty percent of group A patients had left ventricular hypertrophy, and none had an additional accessory pathway. Group B patients had no structural heart disease, and 33% had an additional accessory pathway. Group A patients had a slower resting heart rate (56 ± 7 vs 75 ± 10 bpm, P <0.0001), a wider QRS complex (0.15 ± 0.01 vs 0.11 ± 0.02 ms, P = .0004), and a longer HV interval (34 ± 1 vs 25 ± 3 ms, P = .0003). During long-term follow-up, 50% of group A patients developed complete AV block versus none in group B. Eighty percent of group A patients developed atrial flutter and/or atrial fibrillation. No Group B patient had any arrhythmia during follow-up after successful ablation of additional arrhythmia circuits. No sustained ventricular arrhythmia was induced in any patient from either group. CONCLUSION: Patients with a fasciculoventricular pathway associated with the PRKAG2 mutation have distinct clinical, ECG, and electrophysiologic profiles and should be correctly identified because of their ominous long-term prognosis. Patients without the mutation have an excellent arrhythmia-free prognosis after treatment of additional circuits.
Assuntos
Proteínas Quinases Ativadas por AMP/genética , Feixe Acessório Atrioventricular/genética , Feixe Acessório Atrioventricular/diagnóstico , Feixe Acessório Atrioventricular/epidemiologia , Feixe Acessório Atrioventricular/fisiopatologia , Adulto , Comorbidade , Eletrocardiografia , Técnicas Eletrofisiológicas Cardíacas , Feminino , Doença de Depósito de Glicogênio Tipo IIb/epidemiologia , Humanos , Hipertrofia Ventricular Esquerda/epidemiologia , Hipertrofia Ventricular Esquerda/genética , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Prognóstico , Estudos Retrospectivos , Síndrome de Wolff-Parkinson-White/genética , Adulto JovemRESUMO
OBJECTIVE: The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation. METHOD: Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG). RESULTS: Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy. CONCLUSIONS: Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.
Assuntos
Proteínas Quinases Ativadas por AMP/genética , Arritmias Cardíacas/genética , Mutação , Brasil , Feminino , Genótipo , Humanos , Masculino , Linhagem , Fenótipo , Síndromes de Pré-Excitação/etiologiaRESUMO
INTRODUCTION: PRKAG2 plays a role in regulating metabolic pathways, and mutations in this gene are associated with familial ventricular preexcitation, hypertrophic cardiomyopathy, and atrioventricular conduction disturbances. Clinico-pathologic and experimental data suggest the hypothesis of a glycogen storage disease. OBJECTIVE: To report a unique pattern of clinical features observed in individuals with a mutant PRKAG2 from two unrelated families. METHODS AND RESULTS: We studied two large families and found a total of 20 affected individuals showing a combination of sinus bradycardia, short PR interval, RBBB, intra and infrahisian conduction disturbances often requiring a pacemaker, and atrial tachyarrhythmias. Three individuals died suddenly at a young age. No patient had the Wolff-Parkinson-White (WPW) syndrome, and only two patients (10%) had myocardial hypertrophy. We performed screening of the exons and exon-intron boundaries of PRKAG2. Genetic analysis revealed a missense mutation (Arg302Gln) in the affected individuals from both families. This mutation had been described before and has been associated with the familial form of the WPW syndrome and with a high prevalence of left ventricular hypertrophy. CONCLUSION: PRKAG2 mutations are responsible for a diverse phenotype and not only the familial form of the WPW syndrome. Familial occurrence of right bundle branch block, sinus bradycardia, and short PR interval should raise suspicion of a mutant PRKAG2 gene.
Assuntos
Eletrocardiografia , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
Foram avaliados os resultados de 23 fraturas do côndilo umeral lateral em crianças, com o intuito de determinar a incidência do fechamento prematuro da cartilagem de crescimento do côndilo umeral e outras complicaçöes relacionadas ao tratamento cirúrgico desse tipo de fratura. A avaliaçäo constou de um exame clínico e radiográfico, após seguimento mínino de 2,5 anos (média de seis anos e oito meses). Foram encontrados, de acordo com os critérios de Hardacre, 17 casos excelentes (73,9%), quatro bons (l7,4%) e dois maus (8,7%). Näo foi detectada pseudartrose ou lesäo neurológica, embora um dos casos apresentasse sinal de Tinel e parestesia. O fechamento prematuro da cartilagem de crescimento foi observado em cinco casos (21,7%) sem influir nos resultados. Apesar dos bons resultados, considera-se necessária nova avaliaçäo com maior seguimento, estando os pacientes com maturidade esquelética