We present data from an exploratory study of 174 adults with Marfan syndrome regarding their cognitive perceptions of the condition as postulated by the self-regulatory model (Leventhal H, Benyamini Y, Brownlee S et al. In: Petrie KI, Weinman JA, eds. Perceptions of Health and Illness: Current Research and Applications. Amsterdam, The Netherlands: Harwood Academic, 1997: 19-45; Leventhal H, Nerenz DR, Steele DJ. In: Baum A, Taylor SE, Singer JE, eds. Handbook of Psychology and Health. Hillsdale, NJ: Lawrence Erlbaum Associates, 1984: 219-252). The vast majority of the respondents had adequate general knowledge about Marfan syndrome. Eighty-three percent of the respondents perceived Marfan syndrome as having had significant adverse consequences on their lives. Having striae, pain (sore joints), and depression were each independently correlated with this view. Fifty-eight percent of the respondents indicated that they felt they had low to moderate control over their condition, demonstrating variability. History of aortic dissection, pain (sore joints), and depressive symptoms were each negatively correlated with the view that Marfan syndrome is a curable/controllable condition. Moreover, approximately 28% view the condition as a lethal condition, whereas 67% view it as a serious condition. Forty-four percent of the cohort were found to have significant symptomatology of depression independent of beta- and Ca2+-channel blockade use. Respondents cited both advantages and disadvantages of being affected. Genetic counseling that addresses patients' perceptions of Marfan syndrome, and its associated pain, fatigue, and depressive symptoms, may enhance patient adaptation to the condition.

The goals of genetic counseling have differed over the past three decades. Two schools of thought are prominent in reviewing past literature. One upholds the goal of preventing birth defects and genetic disorders while the other promotes a goal of improved psychological well-being in client adaptation to a genetic condition or risk. Both types of goals emphasize that clients should make their own reproductive decisions; however, the former relies on clients making decisions that will reduce the impact of genetic disorders. The differences in the types of goals may be due to the training and orientation of genetics health care providers, socio-cultural views, or priorities of health care settings. Regardless, there are ample reasons to dismiss the prevention of birth defects as a goal. This mini-review recommends use of genetic counseling sub-specialties as a framework for considering different client needs and thus different counseling goals and specific aims in the reproductive, pediatric/adult, and common disease settings. Given the extent of new genetic information, technologies, and the need to evaluate genetic counseling practice, genetics health care providers should work toward arriving at consensus on the goals of genetic counseling, and in doing so, the needs of clients should be considered.

As individuals with Marfan syndrome are increasingly diagnosed earlier in life and prior to life-threatening cardiovascular events, there is opportunity to study factors that influence their reproductive planning and quality of life. In this study of 174 affected adults, the overall quality of life was reported to be adequate, although it was significantly decreased within the spiritual/psychological domain. Approximately 62% agreed that having Marfan syndrome significantly affected their reproductive decision-making. This view was correlated with age of diagnosis, mitral valve prolapse, and the view that Marfan syndrome has adverse consequences on life. Sixty-nine percent reported personal interest in prenatal testing for Marfan syndrome. Respondents most commonly cited increased worries about personal health and the recurrence risk as ways that Marfan syndrome affects their reproductive decisions. Age, striae, back pain, and low quality of life were each independently correlated with lack of sex drive. These results affirm the importance of both clinical and psychosocial issues on affected adults' reproductive decision-making and sexual well-being. Genetic professionals are ideally positioned to discuss concerns about quality of life and reproduction with patients with Marfan syndrome and refer those with significant concerns for further evaluation and management.