Our mission is to become a worldwide reference for education in the field for all professionals involved in the process to disseminate knowledge & skills of Acute Cardiovascular Care.
Our mission is to promote excellence in clinical diagnosis, research, technical development, and education in cardiovascular imaging.
Our mission is to promote excellence in research, practice, education and policy in cardiovascular health, primary and secondary prevention.
Our mission is to reduce the burden of cardiovascular disease through percutaneous cardiovascular interventions.
Improving the quality of life and reducing sudden cardiac death by limiting the impact of heart rhythm disturbances.
Our mission is to improve quality of life and longevity, through better prevention, diagnosis and treatment of heart failure, including the establishment of networks for its management, education and research.
The ESC Working Groups' goal is to stimulate and disseminate scientific knowledge in different fields of cardiology.
The ESC Councils' goal is to share knowledge among medical professionals practicing in specific cardiology domains.
Ten month later, the parents came again to the consultation. Cardiac examination, including echocardiography and ECG, was normal within the family. A heterozygous mutation was found in the cardiac troponin T gene (R141W mutation) in the deceased infant (blood sample was performed before death). The consequences of this genetic result were discussed with the parents. In the same time and consultation, the mother indicated that in fact she was pregnant again (three months). The parents asked for the mean to prevent the transmission of the disease, including the possibility to perform prenatal diagnosis through amniocentesis, and to discuss medical abortion if the foetus would carry the mutation.
At the first cardiogenetic consultation, the possibility of a genetic and mendelian origin of the Dilated Cardiomyopathy of the infant was discussed. Several reports indicate that DCM is monogenic in about 20 to 45% of cases, supporting the principle of a systematic cardiac examination in first degree relatives, whatever the familial context and history. In the present case, and reinforced by the severity and precocity of DCM, cardiac examination was recommended in the parents and the other child. Clinical examination, ECG and echocardiography were normal. It was told to the parents that the risk of another child with DCM was low, but not zero, due to the possibility of incomplete penetrance, or de novo mutation or recessive inheritance.
At the second cardiogenetic consultation, ten months later, genetic result was in favour of an autosomal dominant inheritance and interestingly the same mutation was previously described with this mode of inheritance in another DCM family. The risk for a future child was therefore 50%. Prenatal diagnosis was extensively discussed with the parents through a multidisciplinary team including a cardiologist, a geneticist, a psychologist and an obstetrician. The severity of the mutation was also observed in the previous family/report.
A consensual attitude was to accept prenatal diagnosis if still requested by the parents. Genetic status was determined in the same time in the parents. Surprisingly the two parents did not carry the mutation (and the other child did not). After internal laboratory checking for right paternity, it was conclude that the mutation of the infant was a de novo mutation (neomutation that occurred in the infant for the first time in the family, the mutation usually concerning one germinal cell of one of the parents). There was therefore no risk of transmission for a future child and the parents were reassured. A rare hypothesis was however discussed, the possibility of recurrence of DCM due to the presence of the mutation in several germinal cells of one of the parents (a mechanism known as germline mosaicism). The very low probability of this hypothesis led us to consider prenatal diagnosis as not mandatory and it was not requested by the parents. Six months later, the newborn was healthy.
1. Schonberger J & Seidman CE. Many roads lead to a broken heart: the genetics of dilated cardiomyopathy. Am J Hum Genet. 2001;69:249-60.
2. Kamisago M, Sharma SD, DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000;343:1688-96.
3. Villard E, Dubosq-Bidot L, Charron P, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005, 26(8):794-803.
4. Burkett EL & Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005;45:969-981.
5. Charron P. Clinical genetics in cardiology. Heart. 2006 Aug;92(8):1172-6.
European Society of Cardiology
European Heart HouseLes Templiers2035 Route des CollesCS 80179 BIOT
06903Sophia Antipolis, FR
Our mission: To reduce the burden of cardiovascular disease
© 2017 European Society of Cardiology. All rights reserved