Recommendations for genetic testing in cardiology: Review of major international guidelines. / Recomendações para a realização de testes genéticos em cardiologia ­ revisão das principais diretrizes internacionais.

In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.

False Positive Troponin I Rendering Two Admissions for "Recurrent Acute Myopericarditis".

INTRODUCTION: Since there are many manufacturers of cardiac troponin I assays, the true incidence of a false positive result is unknown. The authors report a case of an 18-year-old patient with previous history of recurrent myopericarditis and admitted to hospital twice again with a suspicious of myopericarditis. CONCLUSION: Troponin I was found to be a false positive and alkaline phosphatase interference was proved to have been the responsible for this.

Cardiovascular risk profile of high school students: a cross-sectional study.

INTRODUCTION: Disease prevention should begin in childhood and lifestyles are important risk determinants of cardiovascular disease. Awareness and monitoring of risk is essential in preventive strategies. AIM: To characterize cardiovascular risk and the relationships between certain variables in adolescents. METHODS: In a cross-sectional study, 854 adolescent schoolchildren were surveyed, mean age 16.3 ± 0.9 years. Data collection included questionnaires, physical examination, charts for 10-year relative risk of mortality, and biochemical assays. In the statistical analysis continuous variables were studied by the Student's t test and categorical variables by the chi-square test and Fisher's exact test, and each risk factor was entered as a dependent variable in logistic regression analysis. RESULTS: Physical activity was insufficient in 81% of students. The daily consumption of soup, salad or vegetables, and fruit was, respectively, 37%, 39% and 21%. A minority (6%) took ≤ 3 and 77% took ≥ 5 meals a day. The prevalence of each risk factor was as follows: overweight 16%; smoking 13%; hypertension 11%; impaired glucose metabolism 9%; hypertriglyceridemia 9%; and hypercholesterolemia 5%. Out-of-school physical activity, hypertension and overweight were more prevalent in males (p<0.001). Females had higher levels of cholesterol (p<0.005) and triglycerides (p<0.001). A quarter of the adolescents had a relative risk score for 10-year cardiovascular mortality of ≥ 2. Overweight showed a positive association with blood pressure, changes in glucose metabolism and triglycerides, and a negative association with number of daily meals. CONCLUSIONS: The results demonstrate the need for action in providing and encouraging healthy choices for adolescents, with an emphasis on behavioral and lifestyle changes aimed at individuals, families and communities.

Retrospective review of the medical records of cardiology hospital outpatient clinics with the aim of determining the therapeutic approach to patients suffering from high blood pressure and/or dyslipidemia.

UNLABELLED: "Retrospective Review of the Medical Records of Cardiology Hospital Outpatient Clinics with the Aim of Determining the Therapeutic Approach to Patients Suffering from High Blood Pressure and/or Dyslipidemia" is a pilot study conducted by the Epidemiology and Cardiovascular Prevention Working Group of the Portuguese Society of Cardiology, based on the idea that all patients suffering from high blood pressure and/or dyslipidemia should be treated according to the guidelines for the treatment of these pathologies. OBJECTIVE: The main aim was to obtain data on the therapeutic approaches to patients observed in cardiology hospital outpatient clinics with high blood pressure and/or dyslipidemia as well as other concomitant diseases, in order to plan future wider-ranging studies and to analyze the main risk factors of cardiovascular conditions in this population. METHODS: Patients of both sexes aged 35 years or over were included, diagnosed at least one year previously with high blood pressure and/or dyslipidemia and observed on a regular basis at outpatient clinics, with data being recorded from the consultation after the start of the survey and from consultations in the previous 12 to 18 months. RESULTS: The survey covered 22 centers, and included 285 patients, 58.4% male and 41.6% female. Of these patients, 87.7% had high blood pressure, 75.8% had dyslipidemia and 63.5 % had both pathologies; the prevalence of diabetes was high and that of coronary disease was very high. The mean body mass index (BMI) at the first observation was 28.7 +/- 4.4, while under 20% of the patients had normal BMI. Sixty-two patients were ex-smokers, and 24 still smoked. Mean systolic blood pressure (BP) was over 140 mmHg in all cases, and diastolic BP was around 80 mmHg. Mean LDL cholesterol remained at around 130 mg/dl and HDL cholesterol at around 50 mg/dl. Almost all patients were under combined therapy with diuretics, beta-blockers, angiotensin-converting enzyme inhibitors, calcium channel blockers and statins, with most of these drug classes being prescribed with increasing frequency. CONCLUSION: Although this was a high-risk population for cardiovascular conditions, control of blood pressure and of total and LDL cholesterol was in many cases inadequate, exceeding the values recommended in guidelines. Patients were usually polymedicated, with most drug classes, especially statins, being prescribed with increasing frequency.

Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results.

INTRODUCTION: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of functional low density lipoprotein receptors (LDLR). Mutations in the LDLR gene lead to increased plasma cholesterol levels, resulting in cholesterol deposition in the arteries, thereby increasing the risk of premature coronary heart disease. The homozygous form of FH is rare but heterozygous FH is common, although underdiagnosed in many populations, including the Portuguese. In 1999 the Portuguese Familial Hypercholesterolemia Study was begun at the National Institute of Health. OBJECTIVES: The aim of the Portuguese Familial H ypercholesterolemia Study is to perform an epidemiological study to determine the prevalence and distribution of FH in Portugal and to better understand the pathophysiology of coronary heart disease in these patients. The aim of the present work is to present the study's criteria and organization as well as its preliminary results. METHODS: The study population consists of individuals of both sexes and all ages with a clinical diagnosis of FH, with biochemical and molecular characterization being performed. The clinical criteria used for the diagnosis of FH were adapted from those of the Simon Broome Heart Research Trust. The study is organized in five stages: 1. selection of individuals with a clinical diagnosis of FH; 2. completion of a clinical questionnaire and declaration of informed consent; 3. collection of blood samples; 4. biochemical characterization; 5. molecular study of three genes associated with the FH phenotype: LDLR, apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). RESULTS: Between 1999 and June 2006 the LDLR gene and the APOB gene of 141 index cases (38 children and 103 adults) were studied. In 78 of these index cases (76 heterozygotes and two homozygotes) 50 different mutations in the LDLR gene were identified, and two unrelated individuals were found to have the ApoB3500 mutation. The PCSK9 gene was also studied in individuals in whom a mutation in the LDLR or APOB genes was not found, which identified two index cases with a mutation in this gene. The study of 62 families led to the identification of an additional 117 individuals with FH, 90 adults and 27 children (86 adults and 27 children with mutations in the LDLR gene, two adults with the ApoB3500 mutation, and two adults with a mutation in the PCSK9 gene). CONCLUSIONS: Genetic diagnosis enables correct identification of the disease and provides the basis for more aggressive pharmacologic therapeutic interventions to reduce cardiovascular risk in affected individuals. At present thirteen clinicians are collaborating in the Portuguese FH Study, but it is extremely important to obtain the collaboration of more physicians throughout the country, so that the prevalence and distribution of FH in the Portuguese population can be characterized and a greater number of individuals can benefit from appropriate and early therapy.