Genetic counselling

2020 ◽  
pp. 49-58
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Genetic Counselling ◽  
Congenital Heart ◽  
Single Gene ◽  
Genetic Counsellor ◽  
Lipid Disorders ◽  
Single Gene Disorders ◽  
Inherited Cardiac Conditions ◽  
Qt Syndrome ◽  
Artery Disease

Genetic counselling is one of the major tools in managing inherited cardiac conditions (ICCs) including single gene disorders such as hypertrophic cardiomyopathy and long QT syndrome to multifactorial conditions such as coronary artery disease (CAD) and congenital heart disease (CHD). This chapter deals with genetic counselling for ICCs that are typically transmitted in a Mendelian fashion, for example cardiomyopathies, arrhythmias, Marfan syndrome, as well as inherited lipid disorders. Typically, a genetic counsellor works within a multidisciplinary team including cardiologists, clinical geneticists, nurses, social workers, and psychologists. This chapter covers the role of genetic counsellors, process, consent and confidentiality, communication, and outcomes.

Reaching Future Scientists, Consumers, & Citizens

2014 ◽  
Vol 76 (6) ◽  
pp. 379-383 ◽  
Author(s):  
Melissa A. Hicks ◽  
Rebecca J. Cline ◽  
Angela M. Trepanier
Keyword(s):  
Personalized Medicine ◽  
Genetic Basis ◽  
Genetic Disorders ◽  
Single Gene ◽  
Personal Health ◽  
Adult Onset ◽  
Biology Textbooks ◽  
Multifactorial Diseases ◽  
Single Gene Disorders

An understanding of how genomics information, including information about risk for common, multifactorial disease, can be used to promote personal health (personalized medicine) is becoming increasingly important for the American public. We undertook a quantitative content analysis of commonly used high school textbooks to assess how frequently the genetic basis of common multifactorial diseases was discussed compared with the “classic” chromosomal–single gene disorders historically used to teach the concepts of genetics and heredity. We also analyzed the types of conditions or traits that were discussed. We identified 3957 sentences across 11 textbooks that addressed multifactorial and “classic” genetic disorders. “Classic” gene disorders were discussed relatively more frequently than multifactorial diseases, as was their genetic basis, even after we enriched the sample to include five adult-onset conditions common in the general population. Discussions of the genetic or hereditary components of multifactorial diseases were limited, as were discussions of the environmental components of these conditions. Adult-onset multifactorial diseases are far more common in the population than chromosomal or single-gene disorders; many are potentially preventable or modifiable. As such, they are targets for personalized medical approaches. The limited discussion in biology textbooks of the genetic basis of multifactorial conditions and the role of environment in modifying genetic risk may limit the public’s understanding and use of personalized medicine.

scholarly journals miRNA Polymorphisms and Risk of Cardio-Cerebrovascular Diseases: A Systematic Review and Meta-Analysis

2019 ◽  
Vol 20 (2) ◽  
pp. 293 ◽  
Author(s):  
Milad Bastami ◽  
Jalal Choupani ◽  
Zahra Saadatian ◽  
Sepideh Zununi Vahed ◽  
Yaser Mansoori ◽  
...  
Keyword(s):  
Systematic Review ◽  
Coronary Artery Disease ◽  
Congenital Heart Disease ◽  
Ischemic Stroke ◽  
Congenital Heart ◽  
Web Of Science ◽  
Meta Analysis ◽  
Cerebrovascular Diseases ◽  
Artery Disease

Recently extensive focus has been concentrated on the role of miRNAs in the initiation and progression of cardio-cerebrovascular diseases (CCDs) which constitute a range of conditions including cardiovascular diseases (CVDs, especially coronary artery disease (CAD)), congenital heart disease (CHD) and cerebrovascular diseases (CBVDs, especially the ischemic stroke (IS)). An increasing number of studies are evaluating the association between different miRNA polymorphisms and risk of CCDs, but results have been inconclusive. This study represents a comprehensive systematic review and meta-analysis of the association between miRNA polymorphisms and risk of CCDs. PubMed, Embase, Scopus, and Web of Science were queried to identify eligible articles. Odds ratios and 95% confidence intervals were used to assess the association of miRNA polymorphisms with CCD susceptibility. A total of 51 eligible articles evaluating the association of 31 miRNA polymorphisms were identified. Meta-analysis was performed for six miRNA polymorphisms. miR-146a rs2910164 (30 studies: 13,186 cases/14,497 controls), miR-149 rs2292832 (Nine studies: 4116 cases/3511 controls), miR-149 rs71428439 (Three studies: 1556 cases/1567 controls), miR-196a2 rs11614913 (20 studies: 10,144 cases/10,433 controls), miR-218 rs11134527 (Three studies: 2,322 cases/2,754 controls) were not associated with overall CCD. miR-499 rs3746444 was associated with CCD (20 studies: 9564 cases/8876 controls). In the subgroups, rs2910164 and rs3746444 were only associated with CVDs, especially CAD. In conclusion, the results support the existence of a role for miR-146a rs2910164 and miR-499 rs3746444 in determining susceptibility to CCDs, especially CAD.

The role of cloned genes in the prevention of genetic disease

1988 ◽  
Vol 319 (1194) ◽  
pp. 249-261 ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Disease ◽  
Dna Analysis ◽  
Recombinant Dna ◽  
Single Gene ◽  
Recombinant Dna Technology ◽  
Human Genetic Disease ◽  
Single Gene Disorders ◽  
Current Experience

The application of recombinant DNA technology to the study of human genetic disease promises to increase the scope for carrier detection and prenatal diagnosis. Here we summarize current experience with prenatal diagnosis of single-gene disorders by DNA analysis and highlight some of the technical and organizational problems that remain to be solved.

General approach to diagnosis of cardiomyopathies

ESC CardioMed ◽  
2018 ◽  
pp. 1437-1443
Author(s):  
Claudio Rapezzi ◽  
Massimiliano Lorenzini
Keyword(s):  
Coronary Artery Disease ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Coronary Artery ◽  
Congenital Heart ◽  
Single Gene ◽  
Valvular Disease ◽  
Phenotype Definition ◽  
Artery Disease ◽  
Diagnostic Work

Cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to explain the observed myocardial abnormality. They are grouped into specific morphological and functional phenotypes, with each phenotype subclassified into genetic and non-genetic forms (genetic in this context means single gene mutations). Hence, from a clinical perspective, this leads to a diagnostic work-up that consists of three steps: (1) phenotype definition; (2) exclusion of coronary artery disease, hypertension, valvular disease, or congenital heart disease that could explain the observed myocardial abnormalities; and (3) identification of the underlying disease cause, genetic or acquired.

scholarly journals Polygenic and miltufactorial disorders

Genetika ◽  
2007 ◽  
Vol 39 (2) ◽  
pp. 283-290 ◽  
Author(s):  
Snezana Pajovic
Keyword(s):  
Coronary Artery Disease ◽  
Lipid Metabolism ◽  
Coronary Artery ◽  
Late Onset ◽  
Single Gene ◽  
Susceptibility Gene ◽  
Adult Life ◽  
Single Gene Disorders ◽  
Ultimate Cause ◽  
Artery Disease

Many factors influence our susceptibility to disease. These include our stress load, our environment and the toxins we absorb from it, the total number of infectious agents we are exposed to as well as our underlying genetic susceptibility to these diseases. Multifactorial is the term given to the mode of transmission shown by a large number of diseases which show familial clustering but which is not in accord with any recognized pattern of single gene inheritance. These diseases include several common congenital malformations and acquired disorders of childhood and adult life. The underlying genetic mechanism is thought to involve interaction of relatively large numbers of genes - hence oligogenic or polygenic - with environmental factors. The ultimate cause of Alzheimer?s (AD) is unknown. Genetic factors are suspected, and dominant mutations in three different genes have been identified that account for a much smaller number of cases of familial, early -onset AD. For the more form of late onset AD, ApoE is the only repeatedly confirmed susceptibility gene. Coronary artery disease is well-recognized complication of several single-gene disorders involving lipid metabolism. Over 20 genes have been proposed as candidates for polygenic coronary artery disease. These include genes which control lipid metabolism, blood pressure, clotting, and fibrinolysis.

scholarly journals Current Concepts in Management of Lipid Abnormalities in Patients With Coronary Artery Disease

2020 ◽  
Vol 1 (3-4) ◽  
pp. 164-173
Author(s):  
Kunal Mahajan ◽  
K. Sarat Chandra
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Drug Treatment ◽  
Dietary Patterns ◽  
Healthy Lifestyle ◽  
Pathogenic Role ◽  
Lipid Disorders ◽  
Artery Disease ◽  
Lipid Abnormalities

Lipid disorders play a major pathogenic role in the development of coronary artery disease, which is the major cause of mortality worldwide. In this review, the authors discuss the role of various lipid abnormalities in the causation of coronary artery disease and also highlight the ways to manage them. The roles of a healthy lifestyle and dietary patterns have been emphasized in this regard besides the significant role of drug treatment, which mostly revolves around the statin therapy.

scholarly journals Congenital Bilateral Microtia-Anotia: A Clinical Challenge

2021 ◽  
pp. 221
Author(s):  
Keyword(s):  
Congenital Heart ◽  
Single Gene ◽  
Charge Syndrome ◽  
Specific Pattern ◽  
Cardiac Anomaly ◽  
External Ear ◽  
Ear Canal ◽  
Clinical Challenge ◽  
Single Gene Disorders ◽  
Rule Out

Microtia- Anotia (M-A) is a rare congenital malformation of the external ear structure commonly associated with atresia or stenosis of the ear canal. Its prevalence is more common in Asians and Hispanics, is generally unilateral and is seen more commonly in males. It can either be an isolated defect or be a part of specific pattern of anomalies involving other organs. It has been documented as a component of either a teratogenic embryopathy (isotretinoin, thalidomide or alcohol) or single gene disorders like Treacher Collins and as a part of a pattern of multiple defects like Goldenhar, Nager and CHARGE syndrome. We report a case of a newborn with bilateral microtia-anotia and facial palsy, who on further evaluation was found to have congenital heart disease also. The triad of anotia, facial paralysis and cardiac anomaly is rare and has been first described by Pearl in 1984.Thus, the obviously visible ear malformation at birth should be evaluated in depth to rule out other underlying malformations.

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