1. Schwertz, Dorie W. PhD, RN
  2. Piano, Mariann R. PhD, RN

Article Content

A young boy collapses on the basketball court. He is taken to the emergency department, where he is pronounced dead on arrival. On autopsy, he is found to have severe left ventricular hypertrophy and outflow obstruction. The distraught parents report to the ED nurse that their other son recently fainted during a soccer game. The ED nurse recognizes that these are hallmark signs of a recently recognized genetic disorder called familial hypertrophic cardiomyopathy.


A desire to understand and eventually to treat human genetic disorders has led to an international effort to construct the entire map of human DNA sequences. This project, the Human Genome Project, was initiated in the late 1980s and early 1990s by the U.S. Department of Energy and the National Institutes of Health, and is well on its way to completion.


Another goal of the Human Genome Project was to localize specific sequences of DNA that constitute genes and to direct the production of specific proteins. In the last several years, the Human Genome Project has stimulated an explosion in our depth of understanding of how specific genetic mutations are linked to diseases. It has become clear that certain behaviors and environmental factors modify the clinical manifestations of genetically linked diseases. Therefore, nurses must be prepared to recognize genomic sequence mutations and genetic disorders, and must understand how the expression of genes responsible for these disorders can be modified to reduce manifestation of the disease. The outcome of application of this knowledge is optimization of an individual's health within the context of his or her own genetic makeup.


The purpose of this issue of the Journal of Cardiovascular Nursing (13:4) is to provide all types of nurses with basic knowledge related to genetically linked cardiovascular disorders. Nurses will be involved in every aspect of caring for patients with genetically linked diseases, including identification, prevention, and management. Nurses will need to inform patients, families, and, possibly, communities affected by genetically linked diseases. Most importantly, the nurse must recognize the diversity of genetically linked diseases, especially in terms of prevention, environmental influences, and risk stratification. For example, those patients with familial hypercholesteremia who are identified at a young age will benefit from early diet and exercise modification. In patients with familial hypertrophic cardiomyopathy, early interventions have not been identified; however, risk assessment for sudden death and institution of preventive measures can be undertaken.


It is suggested that this issue of the Journal of Cardiovascular Nursing can serve as a text or educational tool to increase nurses' awareness and knowledge about genetically linked cardiovascular diseases. Having nursing publications of this nature was identified by the Workshop on Genetics Education in Nursing (Bethesda, Maryland, 1995) as an educational strategy for the dissemination of genetic information. Furthermore, there is a national initiative for nurses, physicians, nurse practitioners, and allied health professionals to incorporate more genetics into their educational curricula. It is anticipated that genetic content will be incorporated into licensure and certification examinations. Currently, the National League for Nursing is surveying schools to determine whether basic human genetic concepts, inheritance patterns, genetic testing and technology, and ethical/counseling issues related to the patient and family have been incorporated into curricula.


This issue of the Journal of Cardiovascular Nursing is written in such a way that health care providers with no background and those with expertise in the genetic basis of disease will both find it useful. The issue is organized so that those practitioners with no expertise in genetics can read the articles in order, in their entirety, to teach themselves and to master the content. The first article by Schwertz and McCormick on the molecular basis of genetics and inheritance reviews all of the concepts and terms needed to read the articles that follow. The glossary of terms included in this review can be referred to as the practitioner reads the other articles. In addition, other readings and web sites are recommended to enhance and reinforce the reader's knowledge. Three articles present an in-depth, state-of-the-science discussion of the genetic basis of specific cardiovascular disorders. These include: "The Genetic Basis for Cardiac Dysrhythmias and the Long QT Syndrome" by Vizgirda, "Familial Hypertrophic Cardiomyopathy" by Piano, and "Genetic Determinants of Blood Pressure Regulation" by Ambler and Brown. Use of molecular technologies in the diagnosis and treatment of disease is addressed in the article by Micevski, entitled "The Use of Molecular Technologies for the Detection of Enteroviral RNA in Myocarditis" and in the article by Meyerson et al, entitled "Gene Therapy as a Therapeutic Intervention for Vascular Disease." Finally, practical issues of genetic testing, clinical genetics, counseling, and ethics are addressed by Nehring and Faux in the article entitled "Clinical Genetics: An Overview" and in Lashley's article, "Genetic Testing, Screening, and Counseling Issues in Cardiovascular Disease."


The very core of health care delivery is undergoing revolutionary changes with the elucidation of the entire human genome, the expanding knowledge of the genetic basis of diseases, the potential for new gene therapies, and a growing empirical basis for changing behavior and environment to modify risk factors and symptomatic manifestations of genetically linked disorders. Nurses are in a key position to take a leadership role in incorporating genetics into promotion of health and treatment of disease. A holistic and patient-centered approach that stresses counseling and teaching gives nurses the opportunity to promote optimal health for every individual in the context of their own genetic makeup. Nurses should embrace all aspects of the genetic approach to health care-from understanding the vocabulary of genetics (molecular biology) to dealing with ethical issues. The editors believe that reading this issue, "The Genetic Basis of Cardiovascular Disease," is a good place to start.


Dorie W. Schwertz, PhD, RN


Assocate Professor; College of Nursing; Department of Medical Surgical Nursing; College of Medicine; Department of Pharmacology


Mariann R. Piano, PhD, RN


Associate Professor; Department of Medical-Surgical Nursing; University of Illinois at Chicago; Chicago, Illinois


Issue Editors