RESUMO
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53.3%) (mean age 27±16 years). Patients with WPW and/or VH were placed in a group of 18 individuals, in which 11 (61.1%) had VH and WPW, 6 (33.3%) had isolated WPW, and 1 (5.6%) had isolated VH. Palpitations occurred in 16 patients (88.9%), chest pain in 11 (61.1%), dizziness in 13 (72.2%), syncope in 15 (83.3%), and dyspnea in 13 (72%). Sudden cardiac death (SCD) occurred in 2 (11.1%), and 2 patients with cardiac arrest (CA) had asystole and pre-excited atrial flutter-fibrillation (AFL and AF) as the documented mechanism. Transient ischemic attack (TIA) and learning/language disabilities with delayed development were observed. Genetic analysis identified a new missense pathogenic variant (p.K290I) in the PRKAG2 gene. Cardiac histopathology demonstrated the predominance of vacuoles containing glycogen derivative and fibrosis. The treatment was based on hypertension and diabetes mellitus (DM) control, antiarrhythmic drugs (AD), anticoagulation, and radiofrequency catheter ablation (RCA). Six patients (33.3%) underwent pacemaker implantation (PM). CONCLUSIONS The present study describes the clinical treatment for a rare cardiac syndrome caused by a PRKAG2 mutation.
Assuntos
Hipertrofia Ventricular Esquerda/etiologia , Hipertrofia Ventricular Direita/etiologia , Linhagem , Síndrome de Wolff-Parkinson-White/genética , Proteínas Quinases Ativadas por AMP/genética , Aborto Espontâneo/etiologia , Adulto , Arritmias Cardíacas/etiologia , Transtorno Autístico/etiologia , Brasil , Pré-Escolar , Morte Súbita Cardíaca/etiologia , Deficiências do Desenvolvimento/etiologia , Tontura/etiologia , Dispneia/etiologia , Feminino , Parada Cardíaca/etiologia , Humanos , Hipertrofia Ventricular Esquerda/patologia , Hipertrofia Ventricular Direita/patologia , Ataque Isquêmico Transitório/etiologia , Transtornos do Desenvolvimento da Linguagem/etiologia , Masculino , Mutação de Sentido Incorreto , Síncope/etiologiaAssuntos
Humanos , Masculino , Adolescente , Adulto , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/genética , Argentina , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/genéticaRESUMO
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 JovemAssuntos
Cardiomiopatia Hipertrófica Familiar/genética , Síndrome de Wolff-Parkinson-White/genética , Cardiomiopatia Hipertrófica Familiar/diagnóstico , DNA Mitocondrial/genética , Evolução Fatal , Testes de Função Cardíaca , Humanos , Lactente , Recém-Nascido , Masculino , Taquicardia por Reentrada no Nó Atrioventricular/diagnóstico , Taquicardia por Reentrada no Nó Atrioventricular/genética , Síndrome de Wolff-Parkinson-White/complicações , Síndrome de Wolff-Parkinson-White/diagnósticoRESUMO
Atualmente, diversas doenças cardíacas são reconhecidas como de origem genética. As mutações em genes, que codificam várias proteínas do sarcômero com desarranjo miofibrilar e dos miócitos, e a mutação associada à síndrome de Wolff-Parkinson-White, identificada no cromossomo 7q3 como resultado de uma mutação pontual no gene, que codifica uma subunidade reguladora de AMP - proteína quinase ativada, expressa em hipertrofia ventricular, pré-excitação ventricular ou ambas, são dois exemplos de cardiomiopatia hipertrófica familiar 1-3. Outras doenças cardíacas congênitas, nas quais a cardiomiopatia hipertrófica ou dilatada e distúrbios elétricos, podem estar presentes em cerca de 20 a 30 por cento de pacientes, incluem algumas doenças mitocondriais4-6. Apresentamos um caso de uma recém nascida com taquicardia persistente secundaria à síndrome de Wolf-Parkinson-White, na qual hipertrofia importante e outras anormalidades sistêmicas foram atribuídas à doença mitocondrial.
Assuntos
Humanos , Masculino , Recém-Nascido , Lactente , Cardiomiopatia Hipertrófica Familiar/genética , Síndrome de Wolff-Parkinson-White/genética , Cardiomiopatia Hipertrófica Familiar/diagnóstico , DNA Mitocondrial/genética , Evolução Fatal , Testes de Função Cardíaca , Taquicardia por Reentrada no Nó Atrioventricular/diagnóstico , Taquicardia por Reentrada no Nó Atrioventricular/genética , Síndrome de Wolff-Parkinson-White/complicações , Síndrome de Wolff-Parkinson-White/diagnósticoAssuntos
Taquicardia Paroxística/genética , Síndrome de Wolff-Parkinson-White/genética , Adolescente , Criança , Aberrações Cromossômicas , Transtornos Cromossômicos , Feminino , Humanos , Recém-Nascido , Masculino , Linhagem , Taquicardia Paroxística/complicações , Taquicardia Paroxística/etiologia , Síndrome de Wolff-Parkinson-White/complicações , Síndrome de Wolff-Parkinson-White/etiologiaRESUMO
A family group of seven members is presented, two of which have pre-excitation syndrome. These subjects are identical twin brothers. One of them has the W-P-W syndrome tipe B, and the other has L-G-L syndrome. The latter had an associated atrial-septal defect, and the other twin had no associated cardiovascular lesions. Both underwent electrocardiographic and vectorcardiographic studies, as well as His bundle electrograms. In the case with W-P-W, the diagnosis was made by electrocardiography, and was confirmed by vertocardiography. The His bundle electrogram showed the habitual findings in this type of pre-excitation. The His bundle potential was preceded by the beginning of the delta wave. The patient with W-P-W had episodes of supraventricular paroxysmal tachycardia, some of these with antegrade conduction through the normal pathway, and others with conduction through the anomalous pathway. The other had a L-G-L syndrome, demonstrated by electrocardiography and vectorcardiography. During the register of the His bundle electrogram, he did not present pre-excitation, the tracings in basal conditions as well as during atrial stimulation were normal. The conclusion is that many factors exist which back up the hypothesis that the pre-excitation syndromes occur because of anomalous pathways, and that this type of alteration might have a sex linked genetic basis. This presumption appears to be confirmed by the presence of pre-excitation in identical twin brothers. Other possibilities are also discussed.
Assuntos
Taquicardia Paroxística/genética , Gêmeos Monozigóticos , Gêmeos , Síndrome de Wolff-Parkinson-White/genética , Criança , Doenças em Gêmeos , Eletrocardiografia , Feminino , Humanos , Masculino , Gravidez , Síndrome , Taquicardia Paroxística/diagnóstico , Síndrome de Wolff-Parkinson-White/diagnósticoRESUMO
A family group of nine members was studied, two of which had W-P-W syndrome; the father type A; and the son type B. These two patients were studied from the clinical electrocardiographic and vectocardiographic point of view; and they were subject to hisian electrogram recordings. The atrial-ventricular conduction under basal conditions and during atrial stimulation is analyzed. In the first case, potential H is registered after the beginning of delta wave of the ventricular complexes in lead II. In th second case, atrial-ventricular conduction can only occur through the abnormal via (no H potential and register of delta wave in the periferial simultaneous lead), or only through the normal via (evidence of potential H with a normal H-V interval and no delta wave in the periferial line of control). The bibliography of the observation that in most family groups described up until now, there is a good correlation concerning sex. This gives the impression to be a genetic disorder linked to sex.