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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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...
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Cardiomyopathy I: Introduction and Classification01:25

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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...
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Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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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,...
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Cardiomyopathy V: Interprofessional Care01:29

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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...
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Heart Failure II: Pathophysiology01:29

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Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

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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...
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Related Experiment Video

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hypertrophic cardiomyopathy.

Juan José Santos Mateo1, María Sabater Molina2, Juan Ramón Gimeno Blanes3

  • 1Unidad de Cardiopatías Familiares, Servicio de Cardiología, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España.

Medicina Clinica
|November 19, 2017
PubMed
Summary

Hypertrophic cardiomyopathy, an inherited heart disease, involves thickened ventricular walls and diverse symptoms. This review covers its diagnosis and treatment, focusing on genetic causes and potential complications.

Keywords:
Diagnóstico genéticoGenetic diagnosisHypertrophic cardiomyopathyMiocardiopatía hipertróficaMuerte súbita cardiacaMutaciones sarcoméricasSarcomeric mutationsSudden cardiac deathTherapyTratamiento

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Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiovascular disease.
  • It presents with heterogeneous clinical features, multiple phenotypes, numerous causal mutations, and a wide range of complications.
  • HCM is primarily caused by mutations in sarcomeric proteins, identified in up to 60% of patients.

Purpose of the Study:

  • To provide a comprehensive overview of the diagnostic and therapeutic strategies for hypertrophic cardiomyopathy.
  • To highlight the complexity and varied clinical manifestations of this genetic heart condition.
  • To discuss the underlying genetic basis and associated risks of HCM.

Main Methods:

  • Review of current literature on hypertrophic cardiomyopathy.
  • Synthesis of information regarding clinical presentation, diagnosis, and management.
  • Discussion of genetic factors and complications.

Main Results:

  • HCM is characterized by increased ventricular wall thickness.
  • Clinical manifestations include shortness of breath, chest pain, palpitations, syncope, diastolic dysfunction, outflow tract obstruction, ischemia, atrial fibrillation, and abnormal vascular responses.
  • Associated risks include sudden cardiac death, heart failure, and thromboembolic events.

Conclusions:

  • Hypertrophic cardiomyopathy is a complex inherited disease with significant clinical implications.
  • Effective diagnosis and management are crucial due to the broad spectrum of complications and risks.
  • Understanding the genetic basis is key to addressing this cardiovascular condition.