Psychological Stress Associated With Cardiogenetics
This study looked at the psychological impact on patients and family members of cardiogenetic conditions such as long QT syndrome, Brugada syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia. These cardiac arrhythmia syndromes can be caused by genetic mutations that are inherited, usually in an autosomal dominant pattern (i.e., transmitted from parent to child). Also known as cardiac channelopathies, these conditions lead to changes in the cardiovascular conduction system, specifically the sodium, potassium and calcium ion channels. Because these abnormalities are electrical and not structural, they often go undetected. Individuals may remain asymptomatic until their initial clinical manifestation of a potentially lethal heart arrhythmia or sudden death.
Many physicians have not been trained in diagnosing inherited cardiac arrhythmias, and ECGs can be difficult to interpret, even by those with specialty training. For example, in a study designed to identify at-risk young athletes, Hill et al. found that 32% of abnormal ECGs were never identified, 19% of at-risk patients received no warning and 26% of teenagers with normal ECGs were advised to avoid strenuous exercise. In addition, given the lack of familiarity with the genetic basis of some abnormal ECG findings, genetic testing is often not requested in response to symptoms or as part of an autopsy following a sudden death. Therefore, families are frequently left with the ambiguous conclusion that a loved one died from 'unknown' causes. This lack of clarity generates additional stress for families.
Ingles and Semsarian pointed out that the sudden and unexpected deaths associated with these cardiogenetic conditions, particularly in young people who have been asymptomatic, leave families at a loss as to why an otherwise healthy person has died. Moreover, these deaths frequently occur without witnesses (e.g., during sleep), and ambulance and police reports typically shed minimal light on the cause of death. In addition to feeling upset about the death of a loved one, family members are further stressed by the suddenness of their loss. Unlike the death of someone who has been sick for some period of time, family members in the context of sudden death have had no time to prepare themselves for the loss.
When genetic testing has been recommended, the process of testing often elicits a wide variety of additional stressors for patients and family members. Individuals might have to make decisions about whether or not to undergo genetic testing shortly after they have lost a family member or experienced their own near-death event. Some individuals refuse genetic testing because they fear that testing positive for a mutation will generate anxiety and interfere with their ability to enjoy life. Others welcome genetic testing because a positive finding may enable them to take specific preventative measures for themselves and/or family members based on the precise genetic variant identified. Nevertheless, even those who elect to have genetic testing struggle with the implication of a positive result, worrying that disclosing a positive test result could have a negative impact on a family member.
When receiving an inconclusive genetic test result, sometimes referred to as a variant of uncertain significance, most people are relieved at first. An inconclusive finding, however, is not a guarantee of health, because many gene variants associated with life-threatening conditions, including cardiac arrhythmia syndromes, have yet to be identified. Thus, patients who receive inconclusive findings may have an unknown mutation and therefore still be at risk of a genetic disorder, leaving the patient with continuing uncertainty. In summary, the medical community's limited familiarity with these cardiogenetic conditions, the phenomena of sudden death in the absence of prior symptoms and the complexities of genetic testing constitute a high stress context for patients and families.
Research on Psychological Stress & Cardiac Conditions
A number of studies have explored the psychological stresses associated with cardiogenetics. Merlevede et al. interviewed 74 relatives of 53 individuals who had died suddenly and unexpectedly. Participants complained of being left with unanswered questions regarding the cause and circumstances of the death. Also common were feelings of guilt, self-blame and blaming others, including medical personnel. Vincent reported that family members often feared that sudden death would recur in the family and worried about who would die next. Ormondroyd et al. observed that the testing of children was a difficult decision for parents to make, as they worried about coping with the risks that a positive test result might bring.
Given this stressful context, several organizations have recommended the inclusion of clinical psychologists in medical treatment teams. The summary document of the 32nd Bethesda Conference for the Care of the Adult with Congenital Heart Disease in 2000 stated that emotional health should be of the utmost importance and that these individuals should have access to screening and referral sources for mental health treatment. The Canadian Consensus document also emphasized psychological support for such patients. In one study, researchers interviewed 14 psychologists and social workers with extensive experience in helping patients deal with the psychological sequelae of a cardiac event. Their findings suggested that, given the stress of cardiac conditions, psychologists should be integral members of cardiac rehabilitation teams.
However, the medical community has not always followed these guidelines. In a study of 22 adults with congenital heart disease who were assumed to be 'well adjusted', more than a third (n = 8) were actually experiencing a diagnosable psychiatric disorder with prominent symptoms of anxiety or depression. These results suggest that psychological intervention may be necessary, even for cardiac patients who appear emotionally well adjusted.
Personalized Medicine. 2014;11(7):631-640. © 2014 Future Medicine Ltd.