Expanding the pheno- and genotype of premature atherosclerosis.

Cardiovascular Disease (CVD) is a leading cause of mortality and morbidity
worldwide. A number of CVD risk factors such as smoking, hypertension,
diabetes, obesity and dyslipidemias have been well established and are
currently used in CVD risk prediction tools. In addition to these factors,
several studies have confirmed that a family history of CVD is an independent
risk factor, which suggests that other genetic factors (with no direct effect
on the traditional risk factors) are of clinical relevance. However, the
genetic basis for CVD is still not completely understood, and identification of
these genes is of great interest, not only for our understanding of CVD, but
also for the development of potential therapeutic strategies. These novel genes
are most likely to be identified in families where a *non-explained* premature
form of atherosclerosis is observed.

to identify novel molecular pathways resulting in premature atherosclerosis
(PAS) in families where the traditional risk factors are not present / near
absent.

case-control study, cross-sectional.

The burden for all participants is a venous puncture. The risks associated with
this procedure are hematomas or bleeding.
In a selected population we will perform DNA analysis (genome sequencing, and
or epigenetic profiling. We will report genetic data to the patient and his/her
GP in accordance to the regulations set forward by the AMC
A CT scan is performed in family members without clinical manifestations of
CVD. The exposure to radiation is 4.1 mSv for 1 CT scan in this study.
The individual patient might gain direct *health* benefit from participating
in this study by obtaining a full CVD risk profile, which might result in a
medical advise to either change the life style or start with CVD risk lowering
medication (according to EAS/ESC guidelines).