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Heart Valves01:16

Heart Valves

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The human heart is a complex organ with an intricate system of valves that regulate blood flow. There are two main types of valves: atrioventricular (AV) valves and semilunar valves.
The AV valves prevent the backflow of blood from the ventricles to the atria during ventricular contraction. These valves function with the assistance of the chordae tendineae and papillary muscles. When the ventricles are relaxed, the chordae tendineae are slack, allowing blood to flow from the atria into the...
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Pulmonary Hypertension: Classification and Pathogenesis01:30

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Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Overview of the Vascular System01:20

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The vascular system comprises an extensive network of arteries, capillaries, and veins. The vascular system can be broadly divided into the blood and lymphatic systems. Typically, blood vessels can be categorized into three histological regions: tunica intima, tunica media, and tunica adventitia. The tunica intima consists of a single layer of endothelial cells attached to the basal lamina. Underlying the basal lamina is a connective tissue layer and an elastic lamina that gives stability and...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

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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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Related Experiment Video

Updated: Jun 18, 2025

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice
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Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

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Valvulopathies and Genetics: Where are We?

Mònica Coll1,2, Anna Fernández-Falgueras1,2,3, Anna Iglesias1,2

  • 1Unitat de Genòmica i Medicina Personalitzada, Laboratori Clínic Territorial, Institut Català de la Salut, 17003 Salt, Spain.

Reviews in Cardiovascular Medicine
|July 30, 2024
PubMed
Summary

Genetic factors significantly contribute to heart valve diseases like mitral valve prolapse and bicuspid aortic valve. Understanding these genetic links is key for identifying at-risk individuals and developing new treatments.

Keywords:
bicuspid aortic valveconnective disordershereditarymitral valve prolapsenon-syndromic formssyndromic forms

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Last Updated: Jun 18, 2025

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Molecular Biology

Background:

  • Valvulopathies are common cardiovascular diseases with significant morbidity and mortality.
  • While often acquired, valvular heart diseases have a notable genetic component, especially mitral valve prolapse and bicuspid aortic valve.
  • These genetic links can be syndromic (e.g., Marfan, Turner syndromes) or non-syndromic, appearing familial or sporadically.

Purpose of the Study:

  • To review the numerous genetic contributors to heart valve diseases.
  • To highlight the importance of identifying genetic factors for at-risk familial carrier identification.
  • To underscore the role of genetic discoveries in developing novel therapeutic strategies.

Main Methods:

  • Literature review of genetic contributors to valvulopathies.
  • Discussion of genetic syndromes associated with valvular heart disease.
  • Exploration of molecular pathways and genetic elements involved.

Main Results:

  • Valvular heart diseases, including mitral valve prolapse and bicuspid aortic valve, have significant genetic underpinnings.
  • Genetic factors can manifest in syndromic or non-syndromic forms, with familial clustering observed.
  • Identification of genetic contributors is crucial for clinical applications.

Conclusions:

  • Genetic factors play a critical role in the etiology of valvular heart diseases.
  • Further research into genetic elements, regulatory mechanisms, and molecular pathways is essential.
  • Understanding genetic contributions will facilitate early detection and targeted therapies for valvulopathies.