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Several cardiac diseases are autosomal dominantly inherited. This includes cardiomyopathies, primary arrhythmias (channelopathies), dyslipidaemias, premature ischaemic heart diseases and diseases of the thoracic aorta. Sudden cardiac death in the young is also often due to one of the inherited cardiac diseases. Clinical and genetic cascade family screening of the relatives to patients with inherited cardiac diseases is now organized in a national network of centres of cardiology, sharing pedigrees, clinical and genetic information. This gives unique opportunities for offering focused prophylaxis in the group of high-risk relatives.

Chylomicronaemia syndrome is a rare disorder primarily caused by a genetic defect which increases triglycerides, combined with a secondary inducing factor. We describe the fatal course of a 33-year-old, pregnant woman with known dyslipidaemia who had been treated with in vitro fertilisation and developed chylomicronaemia syndrome with severe hypertriglyceridaemia, hypertriglyceridaemia-induced acute pancreatitis and septic shock. Appropriate treatment including close monitoring, severe restriction of dietary fat intake and early plasmapheresis is emphasized - especially during pregnancy.

The role of triglycerides in the risk of ischemic stroke remains controversial. We tested the hypothesis that increased levels of nonfasting triglycerides are associated with ischemic stroke in the general population. Men with a nonfasting triglyceride level 5 mmol/l had a multivariable, adjusted hazard ratio for ischemic stroke of 2.5 (95% confidence interval: 1.3-4.8) compared with men with a nonfasting triglyceride level < 1 mmol/l. The corresponding value in women was 3.8 (1.3-11). We conclude that the level of nonfasting triglycerides is associated with risk of ischemic stroke.

Elevated levels of C reactive protein (CRP) are associated with increased risk of ischaemic vascular disease. We tested whether this is a causal association. CRP > 3 vs < 1 mg/l were associated with an increased risk of ischaemic heart- and cerebrovascular disease of 1.6 and 1.3, respectively. Four CRP polymorphisms were associated with a 64% increase in CRP levels, resulting in a theoretically predicted increased risk of 32% and 25% for ischemic heart- and ischemic cerebrovascular disease, respectively. However, these genotype combinations were not associated with an increased risk of ischaemic vascular disease.

Alcohol is degraded primarily by alcohol dehydrogenase (ADH), and genetic variation that affects the rate of alcohol degradation is found in ADH1B and ADH1C. By genotyping 9,080 white men and women from the general population, we found that men and women with ADH1B slow versus fast alcohol degradation drank approximately 30% more alcohol per week and had a higher risk of everyday and heavy drinking, and of alcoholism. Individuals with ADH1C slow versus fast alcohol degradation had a higher risk of heavy drinking.

We followed 13,981 Danes for 26 years, during which 1,793 developed myocardial infarction and 7,818 died. Women with elevated non-fasting triglycerides had hazard ratios for myocardial infarction of 2.2 for triglycerides of 1-1.99 mmol/L, 4.4 for 2-2.99 mmol/L, 3.9 for 3-3.99 mmol/L, 5.1 for 4-4.99 mmol/L, and 17 for > or = 5 mmol/L versus women with triglycerides < 1 mmol/L. Corresponding values for men were 1.6, 2.3, 3.6, 3.3, and 4.6. Hazard ratios for death were 1.3, 1.7, 2.2, 2.2, and 4.3 in women and 1.3, 1.4, 1.7, 1.8, and 2.0 in men with increasing triglycerides versus < 1 mmol/L.

Introduction: Hereditary haemochromatosis is an autosomal recessive condition characterised by systemic iron overload. In Northern Europe, 85-90% of patients with haemochromatosis are homozygous for the C282Y mutation in the HFE gene. In the present study, we determined the prevalence of the haemochromatosis-associated mutations, C282Y and H63D, in the Danish general population., Material and Methods: We genotyped 9174 individuals from a random sample of the Danish general population (The Copenhagen City Heart Study), stratified by gender and age in 10-year age groups, for the presence of C282Y and H63D., Results: In The Copenhagen City Heart Study, 0.25% (95% confidence interval: 0.16-0.38%) were homozygous for C282Y, 1.4% (1.2-1.7%) were compound heterozygous for C282Y/H63D, and 9.2% (8.6-9.9%) were heterozygous for C282Y alone. Accordingly, the allele frequencies of C282Y and H63D in the Danish population were 5.6% (5.3-5.9%) and 12.7% (12.2-13.2%). All in all, more than 10% of the Danish population are either homozygous or heterozygous for C282Y, whereas about 24% are either homozygous or heterozygous for H63D., Conclusion: A prevalence of 0.25% homozygotes and > 10% heterozygotes for C282Y makes hereditary haemochromatosis the potentially most common inherited disorder in Denmark. However, in new studies from USA of the association between genotype and disease in unselected populations the penetrance is very low. On this background, population screening for the presence of these mutations is not advisable.