Coronary artery disease. A study of three polymorphic sites of adenosine deaminase gene.

OBJECTIVES: The role of adenosine as a cardioprotective agent is well known and recent experimental studies suggest that impairment of adenosine-related signal transduction contributes to the pathophysiology of chronic heart failure. The recent observation of an association between ADA, genetic polymorphism and coronary artery disease (CAD) prompted us to study the possible relevance of three intragenic polymorphic sites of the ADA gene (ADA1, ADA2 and ADA6). METHODS AND RESULTS: 136 non-diabetic patients with coronary artery disease and 246 healthy blood donors from the white Italian population of Central Italy and 129 non-diabetic patients with CAD and 204 newborns from the white Polish population were studied. ADA1, ADA2 and ADA6 genotypes were determined by DNA analysis. In males, the proportion of ADA1 *2 (P = 0.0001) and ADA2 *2 (P = 0.005) alleles is lower in CAD than in controls. In males, the haplotype distribution of the pairs ADA1-ADA2, ADA1-ADA6 and ADA2-ADA6 shows statistically significant differences between coronary artery disease and controls. CONCLUSIONS: The present study suggests a complex association between ADA gene and coronary artery diseases. Besides the control of adenosine concentration due to deamination of adenosine, also other functions of the ADA gene could have a role in the susceptibility and/ or clinical course of coronary artery disease.

Isolated left ventricular noncompaction in a case of sotos syndrome: a casual or causal link?

A 16-year-old boy affected by Sotos syndrome was referred to our clinic for cardiac evaluation in order to play noncompetitive sport. Physical examination was negative for major cardiac abnormalities and rest electrocardiogram detected only minor repolarization anomalies. Transthoracic echocardiography showed left ventricular wall thickening and apical trabeculations with deep intertrabecular recesses, fulfilling criteria for isolated left ventricular noncompaction (ILVNC). Some sporadic forms of ILVNC are reported to be caused by a mutation on CSX gene, mapping on chromosome 5q35. To our knowledge, this is the first report of a patient affected simultaneously by Sotos syndrome and ILVNC.

A Case of Isolated Left Ventricular Noncompaction with Basal ECG-Tracing Strongly Suggestive for Type-2 Brugada Syndrome.

Isolated left ventricular noncompaction (ILVNC) is a cardiomyopathy caused by intrauterine arrest of compaction of the myocardial fibres and meshwork, an important process in myocardial development. ILVNC is clinically accompanied by depressed ventricular function, arrhythmias, and systemic embolization. We reported a case of ILVNC with basal ECG-tracing strongly suggestive for type-2 Brugada syndrome (BrS). Up to now, this is the first report investigating the association between ILVNC and this particular ECG pattern.

Birth weight and coronary artery disease. The effect of gender and diabetes.

BACKGROUND: The developmental origin theory of coronary heart disease proposes that undernutrition in utero permanently changes body functions and metabolism leading to an increased risk of coronary artery diseases (CAD) in adult life. Some studies support this theory but others suggest that birth weight (BW) is not a major risk factor for cardiovascular diseases. Gender differences concerning the association between BW and risk factors for CAD have been reported in some studies but not in others.In this paper we have analyzed the effect of gender and diabetes on the relationship between BW and CAD in the White population of Rome. MATERIAL AND METHODS: 226 subjects admitted to the Hospital for non fatal CAD from the White population of Rome were studied. 395 consecutive newborn infants studied in the same population in the years 1968-1972 were considered for comparison. RESULTS: Among subjects with CAD, reliable information on BW was obtained in 127 subjects. The distribution of BW in CAD depends on gender (p=0.009). In females with CAD there is a tendency toward low BW, while in males with CAD there is a tendency toward high BW. These associations are very marked in non-diabetic subjects with CAD (p=.001), while no significant association is observed in diabetic subjects (p=0.557). CONCLUSION: Our data confirm the association between BW and CAD and suggest that the association depends on gender and is influenced by diabetes.