[Homozygous form of factor V Leiden mutation as the cause of a myocardial infarction in patient with an unremarkable coronary vascular system?]. / Homozygote Form der Faktor-V-Leiden-Mutation als Ursache eines Myokardinfarktes bei unauffälligem Koronargefässsystem?

HISTORY AND ADMISSION FINDINGS: A 32-year-old smoker was referred to our hospital for the evaluation of acute chest pain. 9 years earlier he had had a non Q-wave myocardial infarction. At that time, angiography showed widely patent coronary arteries without atherosclerotic lesions. INVESTIGATIONS: Electrocardiographic as well as creatine kinase patterns were consistent with an acute transmural myocardial infarction. Cholesterol, triglyceride und homocysteine levels were normal. The patient was homozygous for the factor V Leiden mutation. TREATMENT AND COURSE: Thrombolysis was performed with streptokinase followed by coronary angiography showing a patent left coronary system and a non-occlusive thrombosis in the distal part of the right coronary artery. Body weight adapted abciximab infusion was started immediately. 9 weeks later coronary angiography was repeated. Now, in the distal part of the right coronary artery a minor dissection was seen followed by a not flow-limiting stenosis. CONCLUSION: On the evidence of this case history, we think it possible that the pronounced thrombophilia created by the homozygous factor V Leiden mutation may provoke myocardial infarction even if the atherosclerotic lesions are still too trivial to be detected by angiography.

Heritability of cortisol responses to human corticotropin-releasing hormone, ergometry, and psychological stress in humans.

The present study investigated cortisol responses to three different stimulation procedures, with a focus on the contribution of genetic factors. Thirteen monozygotic (MZ) twin pairs and 11 dizygotic (DZ) twin pairs performed bicycle ergometry until exhaustion and were exposed to the psychological stress of public speaking and mental arithmetic in front of an audience. Furthermore, 9 MZ pairs and 10 DZ pairs were injected with 100 micrograms synthetic human CRH (hCRH). The adrenocortical response to these challenges was monitored by determination of cortisol in saliva. Significant intraindividual stability of baseline cortisol levels was found in females, but was less in males. Maximum cortisol responses to all three stimulation procedures were significantly intercorrelated in males, but in females only the cortisol responses to hCRH and ergometer exercise showed a significant correlation. While a decided influence of genetic factors was observed for all three baseline cortisol levels as well as for the response to hCRH, heredity appeared to be play a minor role in the adrenocortical response to psychological stress. Cortisol changes after bicycle ergometry revealed no impact of genetic factors on the secretion of cortisol in response to strenuous physical exercise.