Video Experimental Relacionado
Updated: Oct 18, 2025
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
3.8K
Expresión fenotípica, historia natural y estratificación del riesgo de miocardiopatía causada por variantes
Marta Gigli1, Davide Stolfo1,2, Sharon L Graw3
1Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.).
Circulation
|September 30, 2021
Resumen
Las variantes truncantes de filamina C (FLNCtv) causan miocardiopatía arritmogénica. Este estudio revela que los portadores de FLNCtv enfrentan altos riesgos de insuficiencia cardíaca y arritmias, independientemente de la gravedad de la disfunción ventricular izquierda.
Área de la Ciencia:
- Cardiología
- La genética
- Biología molecular
Sus antecedentes:
- Las variantes truncantes de filamina C (FLNCtv) están relacionadas con la miocardiopatía aritmogénica.
- La presentación, la historia natural y la estratificación del riesgo de FLNCtv siguen siendo poco exploradas.
Objetivo del estudio:
- Desarrollar un perfil de riesgo para la insuficiencia cardíaca refractaria y las arritmias potencialmente mortales en los portadores de FLNCtv.
- Analizar los resultados en una cohorte multicéntrica de portadores de FLNCtv.
Principales métodos:
- Se han identificado portadores de FLNCtv en 10 centros de atención terciaria.
- Datos clínicos y de resultados compilados, que definen los resultados compuestos, incluida la mortalidad, el trasplante de corazón y la implantación de dispositivos de asistencia ventricular.
- Se compararon los pronósticos con las cohortes de miocardiopatía aritmogénica relacionada con LMNA y DSP.
Principales resultados:
- Ochenta y cinco portadores de FLNCtv (42±15 años, 53% varones) presentaron fenotipos heterogéneos, incluidas las cardiomiopatías dilatadas y aritmogénicas.
- Durante una mediana de seguimiento de 61 meses, el 22% experimentó mortalidad/ trasplante de corazón/ DAV, el 15% muerte no arritmica/ DAV y el 27% muerte súbita cardíaca/ arritmias ventriculares mayores.
- Los portadores de FLNCtv mostraron una incidencia similar de muerte cardíaca súbita / arritmias ventriculares mayores en comparación con los portadores de LMNA y DSP; la fracción de eyección ventricular izquierda predijo el riesgo de D / HT / LVAD.
Conclusiones:
- La miocardiopatía aritmogénica FLNCtv es fenotípicamente diversa en los pacientes de referencia terciaria.
- Los portadores de FLNCtv se enfrentan a un riesgo significativo de arritmias que amenazan la vida.
- El riesgo de arritmia en la miocardiopatía FLNCtv no parece estar directamente correlacionado con la gravedad de la disfunción ventricular izquierda.
Videos de Conceptos Relacionados
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
94
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
94
01:25Cardiomyopathy I: Introduction and Classification
127
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
127
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
116
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
116
01:29Cardiomyopathy V: Interprofessional Care
67
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
67
01:30Cardiomyopathy II: Dilated Cardiomyopathy
77
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
77
01:17Pathophysiology of Heart Failure
2.0K
Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
2.0K