What is monogenic cardiovascular disease?

What is monogenic cardiovascular disease?

Monogenic CVD Monogenic CVDs encompass a wide range of phenotypes that result in coronary artery disease, heart failure, aortic dissection and/or malignant ventricular arrhythmias. There are an increasing number of treatments available that aim to alter disease progression and improve patient outcome.

What is an example of a monogenic disease?

Monogenic disorders (monogenic traits) are disorders caused by variation in a single gene and are typically recognized by their striking familial inheritance patterns. Examples include sickle cell anemia, cystic fibrosis, Huntington disease, and Duchenne muscular dystrophy.

Is heart disease monogenic?

Known as monogenic conditions, they include uncommon disorders that mostly affect the heart’s muscle (such as hypertrophic cardiomyopathy) or electrical system (such as long QT syndrome).

What are the 4 cardiovascular diseases?

Four of the main types are described below.

  • Coronary heart disease. Coronary heart disease occurs when the flow of oxygen-rich blood to the heart muscle is blocked or reduced.
  • Strokes and TIAs.
  • Peripheral arterial disease.
  • Aortic disease.

    Is heart disease multifactorial?

    Coronary heart disease is clearly a multifactorial disease with risk factors that tend to cluster and interact in an individual to determine the level of coronary risk.

    How do you identify a monogenic disease?

    Monogenic disorders, such as FHM, are caused by single mutations in a specific (set of) gene(s). A typical approach to identify such genes is linkage analysis, which analyzes the segregation of specific genetic markers with the disease phenotype, resulting in a specific chromosomal position for the disease gene.

    What is the most common monogenic disorder?

    The best-known monogenic respiratory diseases are CF and α1-antitrypsin deficiency, but hundreds of rare monogenic diseases affecting the respiratory system have been described.

    Is cardiovascular disease curable?

    Heart disease is preventable and treatable with the right care. Lifestyle changes such as quitting smoking, regular exercise, dietary changes and treatments for other diseases can help prevent or treat heart disease.

    Are all disease genetic?

    As we unlock the secrets of the human genome (the complete set of human genes), we are learning that nearly all diseases have a genetic component. Some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease.

    Is there such a thing as a monogenic disease?

    Although most individual monogenic diseases are rare, together, they represent a high disease load in the population.

    How is a monogenic disorder like FHM identified?

    Monogenic disorders, such as FHM, are caused by single mutations in a specific (set of) gene (s). A typical approach to identify such genes is linkage analysis, which analyzes the segregation of specific genetic markers with the disease phenotype, resulting in a specific chromosomal position for the disease gene.

    Which is a monogenic disorder associated with a stroke?

    Monogenic disorders associated with hemorrhagic stroke include cerebral cavernous malformations (McDonald et al., 2011) and the hereditary cerebral amyloid angiopathies. Bhavin Dalal, Brian Yuhan, in Drug Targeting and Stimuli Sensitive Drug Delivery Systems, 2018

    Can a single gene cause a cardiovascular disease?

    Our understanding of the mechanism by which single genes can cause disease, even though such mechanisms are uncommon, has led to an understanding of the pathophysiological basis of more common cardiovascular diseases, which clearly are genetically complex. This point can be illustrated by a description of the genetic basis of specific diseases.

    Which is the best description of a monogenic disease?

    Monogenic diseases (table 1) are rare diseases attributable to genetic variants with large effects on disease status. Because of the high penetrance of such variants, the disease is typically inherited in a classical Mendelian fashion ( e.g. dominant or recessive).

    How many monogenic respiratory diseases are there in the world?

    Only seven out of more than 100 known monogenic respiratory diseases are presented as illustration. #: p refers to the short arm of the chromosome. q refers to the long arm of the chromosome. The location numbers after p and q reflect the relative distance to the centromeres of the chromosomes (numbering by convention).

    Our understanding of the mechanism by which single genes can cause disease, even though such mechanisms are uncommon, has led to an understanding of the pathophysiological basis of more common cardiovascular diseases, which clearly are genetically complex. This point can be illustrated by a description of the genetic basis of specific diseases.

    Is there a heritable component to cardiovascular disease?

    It is well known that cardiovascular diseases have a substantial heritable component, but the precise genetic variants responsible for this familial tendency have been hard to uncover. In this revi…