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関連する概念動画

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

47
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...
47
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

1.8K
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...
1.8K
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

51
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...
51
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

22
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,...
22
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

33
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...
33
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

28
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...
28
このページは機械翻訳されています。他のページは英語で表示される場合があります。View in English
  1. ホーム
  2. 研究分野
  3. 生物医学と臨床科学
  4. 心血管医学と血液学
  5. 心臓病 (心血管疾患を含む)
  6. 心不全と病原性/病原性可能性が高い遺伝性心筋病変の関連性:topmによる多祖先分析
  1. ホーム
  2. 研究分野
  3. 生物医学と臨床科学
  4. 心血管医学と血液学
  5. 心臓病 (心血管疾患を含む)
  6. 心不全と病原性/病原性可能性が高い遺伝性心筋病変の関連性:topmによる多祖先分析

関連する実験動画

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

Published on: August 8, 2022

3.7K

心不全と病原性/病原性可能性が高い遺伝性心筋病変の関連性:TOPMによる多祖先分析

Naman S Shetty1, Mokshad Gaonkar2, Akhil Pampana2

  • 1Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.

Mayo Clinic proceedings
|August 23, 2025

PubMed で要約を見る

まとめ
この要約は機械生成です。

約140人に1人が 遺伝性心筋病変を患っており 心不全のリスクを高めています 遺伝的スクリーニングは早期介入のためのキャリアを特定し,心不全の発生率を減らすことができます.

さらに関連する動画

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
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A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

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関連する実験動画

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

3.7K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K
A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

9.9K

科学分野:

  • 遺伝学
  • 心臓病科
  • 精密医療

背景:

  • 遺伝性心筋病は心臓不全の重要な原因です
  • 遺伝的変異は これらの疾患の発生に 重要な役割を果たします
  • これらの変異の蔓延と影響を理解することは公衆衛生にとって不可欠です.

研究 の 目的:

  • TransOmic for Precision of Medicine (TOPMed) のコホートにおける病原性/病原性可能性が高い遺伝性心筋病変性の流行を決定する.
  • これらの変異体と心不全のリスクとの関連を評価する.

主な方法:

  • 多祖先の米国人からのTOPMedデータを用いて遡及的なコホート研究が行われました.
  • 病原性/ 病原性と思われる遺伝性心筋病変のキャリアステータスは,ClinVarの分類を用いて特定された.
  • コックスの比例リスクモデルは,同変数を調整して,キャリアステータスと心不全リスクとの関連を分析した.

主要な成果:

  • 30977人の参加者のうち,0. 7% (229人) が病原性/病原性と思われる遺伝性心筋病変異のキャリアとして特定されました.
  • 心不全の発生率は,1000人年当たり2. 06例で,その発生率は,その発生率でない人数 (1. 40例) よりも高い.
  • これらの変異体を持つと,心不全のリスクが1. 68倍増加した (aHR,1. 68;95%CI,1. 29~2. 22).
  • 結論:

    • アメリカでは成人の140人に1人が 心筋不全の変種を持ち,心不全のリスクを大幅に高めています.
    • 標的型遺伝子スクリーニングによる早期の検出が推奨されます.
    • キャリアに対する予防的介入は,潜在的に心不全の発生率を減らすことができます.