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Related Concept Videos

Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

978
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...
978
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

3.9K
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...
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Heart Failure I: Introduction01:27

Heart Failure I: Introduction

927
Heart failure refers to a clinical syndrome caused by structural or functional cardiac disorders that prevent the heart from pumping an adequate amount of blood to meet the body's metabolic needs. This condition often arises from myocardial infarction or ischemia, leading to decreased cardiac output, reduced tissue perfusion, impaired gas exchange, fluid volume imbalance, and decreased functional ability.Heart failure can result from disruptions in the mechanisms that regulate cardiac output...
927
Heart Failure VI: Adjunct Therapies01:22

Heart Failure VI: Adjunct Therapies

368
Additional therapies for treating patients with heart failure (HF) may include procedural interventions, supplemental oxygen, the management of sleep disorders, and nutritional therapy.Procedural InterventionsImplantable Cardioverter-Defibrillator: For patients at risk of life-threatening arrhythmias due to severe left ventricular dysfunction, an Implantable Cardioverter-Defibrillator (ICD) can detect and terminate these arrhythmias, preventing sudden cardiac death and improving survival rates.
368
Heart Failure Drugs: Diuretics01:22

Heart Failure Drugs: Diuretics

990
Heart failure and kidney perfusion are interconnected in a complex way. Reduced renal perfusion and venous congestion are two significant factors that contribute to renal dysfunction in heart failure. The kidneys, primarily responsible for fluid balance in the body, are adversely affected due to compromised cardiac output and increased venous pressure. In response to reduced renal perfusion, the kidneys activate neurohumoral mechanisms to restore balance. However, these mechanisms can be...
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Heart Failure V: Medical Management01:30

Heart Failure V: Medical Management

342
Medical Management of Acute Decompensated Heart Failure (ADHF)The primary goals of therapy for patients hospitalized with acute decompensated heart failure (ADHF) include:Relieving symptomsOptimizing volume statusSupporting oxygenation and ventilationMaintaining cardiac output (CO) and end-organ perfusionIdentifying and addressing the cause of ADHFPreventing complicationsProviding patient education on factors precipitating HF exacerbationPlanning for dischargeOngoing monitoring and assessment...
342

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Related Experiment Video

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Author Spotlight: Investigating HR-Dependent Cardiac Function in Mouse Models Through a Novel Atrial-Pacing Approach
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Anderson-Fabry disease in heart failure.

M M Akhtar1, P M Elliott2

  • 1Institute of Cardiovascular Science, University College London, London, UK. drmajidakhtar@gmail.com.

Biophysical Reviews
|June 18, 2018
PubMed
Summary
This summary is machine-generated.

Anderson-Fabry disease, a genetic disorder, stems from a deficiency in alpha-galactosidase A. This leads to harmful lipid buildup, particularly affecting the heart and causing significant cardiovascular issues.

Keywords:
Anderson-Fabry diseaseGLA geneGlobotriaosylceramideHeart failure

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Area of Science:

  • Genetics
  • Biochemistry
  • Cardiology

Background:

  • Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder.
  • It is caused by mutations in the GLA gene, leading to alpha-galactosidase A enzyme deficiency.
  • The actual incidence may be higher than the estimated 1 in 40,000-117,000 due to underdiagnosis.

Purpose of the Study:

  • To summarize the pathology and clinical manifestations of Anderson-Fabry disease.
  • To highlight the cardiac involvement and its associated risks.

Main Methods:

  • Review of existing literature on Anderson-Fabry disease.
  • Analysis of the molecular mechanisms of Gb3 accumulation.
  • Examination of clinical data on cardiac manifestations.

Main Results:

  • Alpha-galactosidase A deficiency causes globotriaosylceramide (Gb3) accumulation in lysosomes.
  • Gb3 accumulation leads to inflammation, oxidative stress, and tissue remodeling.
  • Cardiac involvement is prevalent, including hypertrophy, dysfunction, and conduction abnormalities.

Conclusions:

  • Anderson-Fabry disease results in progressive Gb3 accumulation, causing multi-organ pathology.
  • Cardiac manifestations in AFD significantly contribute to morbidity and mortality.
  • Early diagnosis and management are crucial for mitigating cardiovascular complications.