Genetic counselling and subsequent molecular genetic testing should be performed in patients when an inherited monogenic form of heart disease is suspected. For the individual patient as well as for the (possibly asymptomatic) relatives, molecular diagnostics is important for an early diagnosis, (preventive) therapy and prognosis assessment. Using the example of hypertrophic cardiomyopathy (HCM), the most common monogenic form of structural heart disease, essential aspects of modern genetic counselling are elucidated. Specific examples of one case with a classical form of hypertrophic obstructive cardiomyopathy and one case of congenital HCM with Noonan's syndrome are discussed.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00108-018-0452-zDOI Listing

Publication Analysis

Top Keywords

genetic counselling
12
monogenic form
8
heart disease
8
[modern genetic
4
counselling practical
4
practical aspects
4
aspects exemplified
4
exemplified hypertrophic
4
hypertrophic cardiomyopathy]
4
cardiomyopathy] genetic
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!