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Related Concept Videos

Hypertension and Regulation of Blood Pressure01:18

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Hypertension, the most common cardiovascular disease, is diagnosed through repeated measurements of elevated blood pressure. Its risks, including damage to the kidney, heart, and brain, are directly proportional to blood pressure levels. Starting from 115/75 mm Hg, the risk of cardiovascular disease doubles with each increment of 20/10 mm Hg. The diagnosis relies on blood pressure measurements, not on patient symptoms, as hypertension is often asymptomatic until end-organ damage is imminent or...
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Hypertension is a widespread, long-term medical condition where blood pressure in the arteries remains elevated. It is characterized by systolic blood pressure readings of 130 mm Hg or above or diastolic blood pressure (DBP) readings of 80 mm Hg or higher. Unmanaged hypertension poses significant health risks, making the distinction between primary (or essential) hypertension and secondary hypertension crucial, as their management and implications vary.Primary HypertensionPrimary hypertension,...
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Liddle syndrome is a genetically inherited form of hypertension characterized by the overactivity of epithelial sodium channels in the nephron, the functional unit of the kidney. This heightened activity leads to increased sodium reabsorption and excessive excretion of potassium. To counteract this, potassium-sparing diuretics such as amiloride are used. They function by blocking these sodium channels, thereby reducing the influx of sodium into the epithelial cells and minimizing the loss of...
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Alterations in Blood Pressure01:30

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Alterations in blood pressure, such as hypertension (high blood pressure) and hypotension (low blood pressure), significantly affect human health. Understanding these conditions' classifications, causes, and symptoms is essential for effective management and treatment.
Hypertension (High blood pressure)
Hypertension occurs when blood pressure readings consistently exceed the normal range. It is diagnosed when systolic blood pressure (the top number, indicating pressure while the heart...
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Hypertension II: Pathophysiology01:29

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Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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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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Assessing Murine Resistance Artery Function Using Pressure Myography
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Monogenic hypertension.

Vincenza Precone1, Geraldo Krasi, Giulia Guerri

  • 1MAGI Euregio, Bolzano, Italy. vincenza_precone@yahoo.it.

Acta Bio-Medica : Atenei Parmensis
|October 3, 2019
PubMed
Summary
This summary is machine-generated.

Monogenic hypertension, caused by single gene mutations, is a key cause of high blood pressure. Diagnosis involves clinical exams, lab tests, and genetic testing for accurate identification and treatment.

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Area of Science:

  • Cardiology
  • Genetics
  • Endocrinology

Background:

  • Hypertension represents a major global health challenge.
  • Approximately 30% of hypertension cases stem from monogenic causes.
  • Monogenic hypertension is characterized by increased sodium (Na+) transport, either mineralocorticoid-dependent or -independent.

Purpose of the Study:

  • To outline the diagnostic approaches for monogenic hypertension.
  • To highlight the role of genetic testing in identifying monogenic hypertension.
  • To describe the inheritance patterns of monogenic hypertension.

Main Methods:

  • Diagnosis relies on physical examination and blood pressure monitoring.
  • Laboratory analyses include renin, aldosterone, cortisol, and potassium levels.
  • Genetic testing aids in confirming the diagnosis and differentiating it from other forms of hypertension.

Main Results:

  • Monogenic hypertension presents as the primary or sole manifestation in affected individuals.
  • Distinct patterns of mineralocorticoid-dependent or -independent Na+ transport are observed.
  • Autosomal dominant and autosomal recessive inheritance patterns are identified.

Conclusions:

  • Monogenic hypertension is a distinct subtype of hypertension with identifiable genetic origins.
  • A combination of clinical, laboratory, and genetic evaluations is crucial for diagnosis.
  • Understanding the genetic basis and inheritance is vital for patient management and genetic counseling.