Sobrevida de pacientes de uma família das Ilhas Canárias portadores de taquicardia ventricular polimórfica catecolaminérgica com mutação no gene RYR2
Sobrevida de pacientes de uma família das Ilhas Canárias portadores de taquicardia ventricular polimórfica catecolaminérgica com mutação no gene RYR2
Data
2018
Autores
Silva, Roberta Pereira da
Journal Title
Journal ISSN
Volume Title
Publisher
Instituto Nacional de Cardiologia
Resumo
A taquicardia ventricular polimórfica catecolaminérgica (TVPC) é uma síndrome
arritmogênica hereditária caracterizada pelo desenvolvimento de taquicardia
ventricular polimórfica ou bidirecional desencadeada por estresse físico ou emocional
em pacientes jovens com coração estruturalmente normal e eletrocardiograma basal
de 12 derivações normal. O prognóstico da TVPC é sombrio e até 40% dos pacientes
apresentarão morte súbita em até 10 anos após o diagnóstico. Por se tratar de uma
patologia fatal que acomete crianças e adolescentes torna-se um evento devastador
para as famílias envolvidas e para toda a comunidade alertando para a necessidade
de implementação de uma estratégia que amplie a identificação precoce de indivíduos
sob risco. Portanto, a presente dissertação busca investigar o perfil dos pacientes
portadores de TVPC tendo como objetivo principal a avaliação da sobrevida de uma
coorte de 207 pacientes pertencentes a uma família moradora da ilha hispânica de
Gran Canária com a mutação p.G357S no gene RYR2. Nesta coorte a idade média
dos pacientes ao fim do seguimento foi de 41,2 anos, e destes 207 pacientes
diagnosticados geneticamente apenas 6 faleceram subitamente com uma maior taxa
de mortalidade nas 2 primeiras décadas de vida. A sobrevida foi calculada utilizandose
o método de Kaplan Meier e foi estimada em 78,6 anos para o sexo masculino e
79,2 anos para o sexo feminino, sendo semelhante a sobrevida da população geral
da Espanha. E, apesar da baixa mortalidade, até 25% dos pacientes apresentaram
algum tipo de sintoma (síncope, pré-síncope ou morte súbita abortada) ao longo da
vida. Portanto este estudo demonstrou que no caso desta mutação há uma baixa
prevalência de morte súbita e uma ampla diversidade na apresentação dos sintomas,
sendo a maioria dos pacientes (74,4%) assintomáticos enquanto outros 06 pacientes
apresentaram morte súbita. Devido a taxa de mortalidade baixa nesta população não
foi possível estabelecer fatores que colocam esses pacientes em risco de eventos
fatais.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic syndrome characterized by the development of polymorphic or bidirectional ventricular tachycardia triggered by physical or emotional stress in young patients with structurally normal heart and normal 12-lead baseline electrocardiogram. The prognosis of CPVT is bleak and up to 40% of patients will present sudden death within 10 years after diagnosis. Because it is a fatal pathology that affects children and teenagers, it becomes a devastating event for the families involved and for the whole community, alerting the need to implement a strategy that will increase the early identification of individuals at risk. Therefore, the present dissertation seeks to investigate the profile of patients with CPVT, with the main objective being to evaluate the survival of a cohort of 207 patients belonging to a family living in the island of Gran Canaria with the p.G357S mutation in the RYR2 gene. In this cohort the mean age of the patients at the end of follow-up was 41.2 years, and of these 207 genetically diagnosed patients only 6 died suddenly with a higher mortality rate in the first 2 decades of life. Survival was calculated using the Kaplan Meier method and was estimated to be 78.6 years for males and 79.2 years for females, similar to survival of the general population of Spain. And despite the low mortality rate, up to 25% of the patients presented some type of symptoms (syncope, pre-syncope or aborted sudden death) throughout life. Therefore, this study demonstrated that in the case of this mutation there is a low prevalence of sudden death and a wide diversity in the presentation of symptoms, with the majority of patients (74.4%) being asymptomatic while another 06 patients presented sudden death. Due to the low mortality rate in this population it was not possible to establish factors that put these patients at risk of fatal events.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic syndrome characterized by the development of polymorphic or bidirectional ventricular tachycardia triggered by physical or emotional stress in young patients with structurally normal heart and normal 12-lead baseline electrocardiogram. The prognosis of CPVT is bleak and up to 40% of patients will present sudden death within 10 years after diagnosis. Because it is a fatal pathology that affects children and teenagers, it becomes a devastating event for the families involved and for the whole community, alerting the need to implement a strategy that will increase the early identification of individuals at risk. Therefore, the present dissertation seeks to investigate the profile of patients with CPVT, with the main objective being to evaluate the survival of a cohort of 207 patients belonging to a family living in the island of Gran Canaria with the p.G357S mutation in the RYR2 gene. In this cohort the mean age of the patients at the end of follow-up was 41.2 years, and of these 207 genetically diagnosed patients only 6 died suddenly with a higher mortality rate in the first 2 decades of life. Survival was calculated using the Kaplan Meier method and was estimated to be 78.6 years for males and 79.2 years for females, similar to survival of the general population of Spain. And despite the low mortality rate, up to 25% of the patients presented some type of symptoms (syncope, pre-syncope or aborted sudden death) throughout life. Therefore, this study demonstrated that in the case of this mutation there is a low prevalence of sudden death and a wide diversity in the presentation of symptoms, with the majority of patients (74.4%) being asymptomatic while another 06 patients presented sudden death. Due to the low mortality rate in this population it was not possible to establish factors that put these patients at risk of fatal events.
Description
Palavras-chave
Morte súbita, aquicardia ventricular polimórfica catecolaminérgica, Canalopatia, Síncope, Diagnóstico genético, Sudden death, Catecholaminergic polymorphic ventricular tachycardia, Channelopathy, Syncope
Citação
Silva RP. Sobrevida de pacientes de uma família das Ilhas Canárias portadores de taquicardia ventricular polimórfica catecolaminérgica com mutação no gene RYR2. Rio de Janeiro. Dissertação [Mestrado Profissional em Ciências Cardovasculares]; 2018.