Premature Coronary Death Research Articles

Tuberous xanthoma in type 1 familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disease in which there is high low‑density lipoprotein cholesterol levels due to mutation in the gene encoding the receptor for low-density lipoprotein (LDL) located on chromosome 19 and the patients are at high risk for cardiovascular disease, cerebrovascular accidents, metabolic syndrome, and premature coronary death. We present this rare genetic disorder in a 7-year-old boy. The clinicians should be aware of this condition as early diagnosis and treatment can reduce the morbidity and mortality rate associated with the condition.

International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia.

Familial hypercholesterolaemia (FH), a common monogenic disorder, is a preventable cause of premature coronary artery disease and death. Up to 35 million people worldwide have FH, but most remain undetected and undertreated. Several clinical guidelines have addressed the gaps in care of FH, but little focus has been given to implementation science and practice. The International Atherosclerosis Society (IAS) has developed an evidence-informed guidance for the detection and management of patients with FH, supplemented with implementation strategies to optimize contextual models of care. The guidance is partitioned into detection, management and implementation sections. Detection deals with screening, diagnosis, genetic testing and counselling. Management includes risk stratification, treatment of adults and children with heterozygous and homozygous FH, management of FH during pregnancy, and use of lipoprotein apheresis. Specific and general implementation strategies, guided by processes specified by the Expert Recommendations for Implementing Change taxonomy, are provided. Core generic implementation strategies are given for improving care. Nation-specific cholesterol awareness campaigns should be utilized to promote better detection of FH. Integrated models of care should be underpinned by health policy and adapted to meet local, regional and national needs. Clinical centres of excellence are important for taking referrals from the community. General practitioners should work seamlessly with multidisciplinary teams. All health-care providers must receive training in essential skills for caring for patients and families with FH. Management should be supported by shared decision-making and service improvement driven by patient-reported outcomes. Improvements in services require sharing of existing resources that can support care. Advocacy should be utilized to ensure sustainable funding. Digital health technologies and clinical quality registries have special value. Finally, academic-service partnerships need to be developed to identify gaps in care and set priorities for research. This new IAS guidance on FH complements the recent World Heart Federation Cholesterol Roadmap.

International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.

This contemporary, international, evidence-informed guidance aims to achieve the greatest good for the greatest number of people with familial hypercholesterolaemia (FH) across different countries. FH,a family of monogenic defects in the hepatic LDL clearance pathway, is a preventable cause of premature coronary artery disease and death. Worldwide, 35 million people have FH, but most remain undiagnosed or undertreated. Current FH care is guided by a useful and diverse group of evidence-based guidelines, with some primarily directed at cholesterol management and some that are country-specific. However, none of these guidelines provides a comprehensive overview of FH care that includes both the lifelong components of clinical practice and strategies for implementation. Therefore, a group of international experts systematically developed this guidance to compile clinical strategies from existing evidence-based guidelines for the detection (screening, diagnosis, genetic testing and counselling) and management (risk stratification, treatment of adults or children with heterozygous or homozygous FH, therapy during pregnancy and use of apheresis) of patients with FH, update evidence-informed clinical recommendations, and develop and integrate consensus-based implementation strategies at the patient, provider and health-care system levels, with the aim of maximizing the potential benefit for at-risk patients and their families worldwide.

A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia

People with monogenic familial hypercholesterolemia (FH) are at an increased risk of premature coronary heart disease and death. With a prevalence of 1:250, FH is relatively common; but currently there is no population screening strategy in place and most carriers are identified late in life, delaying timely and cost-effective interventions. The purpose of this study was to derive an algorithm to identify people with suspected monogenic FH for subsequent confirmatory genomic testing and cascade screening. A least absolute shrinkage and selection operator logistic regression model was used to identify predictors that accurately identified people with FH in 139,779 unrelated participants of the UK Biobank. Candidate predictors included information on medical and family history, anthropometric measures, blood biomarkers, and a low-density lipoprotein cholesterol (LDL-C) polygenic score (PGS). Model derivation and evaluation were performed in independent training and testing data. A total of 488 FH variant carriers were identified using whole-exome sequencing of the low-density lipoprotein receptor, apolipoprotein B, apolipoprotein E, proprotein convertase subtilisin/kexin type 9 genes. A 14-variable algorithm for FH was derived, with an area under the curve of 0.77 (95% CI: 0.71-0.83), where the top 5 most important variables included triglyceride, LDL-C, apolipoprotein A1 concentrations, self-reported statin use, and LDL-C PGS. Excluding the PGS as a candidate feature resulted in a 9-variable model with a comparable area under the curve: 0.76 (95% CI: 0.71-0.82). Both multivariable models (w/wo the PGS) outperformed screening-prioritization based on LDL-C adjusted for statin use. Detecting individuals with FH can be improved by considering additional predictors. This would reduce the sequencing burden in a 2-stage population screening strategy for FH.

A Case Report of Xanthoma in a Child: A Sign of Systemic Disease

Xanthomas are localized lipid deposits within an organ system. They are often an important sign of systemic disease. An 11-year-old boy came with complaints of multiple asymptomatic raised lesions over elbows, hands, and knees for 1 year. Lipid profile showed increased levels (total serum cholesterol of 622.2 mg%). Biopsy was suggestive of tuberous xanthoma. His parent’s cholesterol levels were also elevated. Familial hypercholesterolemia (FH) is a common genetic disease in which high low-density lipoprotein cholesterol levels are seen from the birth, and patients are at high risk for cardiovascular disease, cerebrovascular accidents, metabolic syndrome, and premature coronary death. Early detection of FH and early treatment is imperative to reduce morbidity and mortality.

C84. Resistent Hypertension in Young Patient, what has Been Missed? A Case Report of Coartation of the Aorta

Abstract Background In children and adolescent patient the most common cause hypertension is secondary due to renal disease. There are other cause of secondary hypertension including Coartation of the Aorta (CoA). Early diagnosis and prompt treatment are important for CoA, if left untreated CoA can causes ventricular hypertrophy, premature coronary artery disease and eventually heart failure. Case Illustration A 17 Years old patient with history of hypertension since the age of 12. He was suspected secondary hypertension due to renal disease and referred to pediatric nephrologist. Laboratory examination and CT angiography renal artery showed normal result. He was treated with multiple antihypertensive drugs, but remains hypertensive despite of medical therapy for 5 years. He was referred to our hospital due to resistant hypertension. At physical examination this patient revealed blood pressure at upper 150/90 and lower extremities 100/60. Echocardiography examination and CT angiography showed Left Ventricle Hypertrophic (LVH) with coartation aorta located distal to left subclavian artery. Thoracic Endovascular Repair (TEVAR) was performed to dilated the coartation in this patient. Post TEVAR procedure peak systolic gradient reduced from 51 mmHg to 4 mmHg. Discussion CoA are one of the causes of secondary hypertension. Uncommonly resistant hypertension can occur in CoA. Early diagnosis and prompt treatment are important for CoA. In this patient the CoA already caused LVH, and if left untreated it can lead more severe complication such as heart failure, and premature coronary artery disease and death.

C84. Resistent Hypertension in Young Patient, what has Been Missed? A Case Report of Coartation of the Aorta

Abstract Background In children and adolescent patient the most common cause hypertension is secondary due to renal disease. There are other cause of secondary hypertension including Coartation of the Aorta (CoA). Early diagnosis and prompt treatment are important for CoA, if left untreated CoA can causes ventricular hypertrophy, premature coronary artery disease and eventually heart failure. Case Illustration A 17 Years old patient with history of hypertension since the age of 12. He was suspected secondary hypertension due to renal disease and referred to pediatric nephrologist. Laboratory examination and CT angiography renal artery showed normal result. He was treated with multiple antihypertensive drugs, but remains hypertensive despite of medical therapy for 5 years. He was referred to our hospital due to resistant hypertension. At physical examination this patient revealed blood pressure at upper 150/90 and lower extremities 100/60. Echocardiography examination and CT angiography showed Left Ventricle Hypertrophic (LVH) with coartation aorta located distal to left subclavian artery. Thoracic Endovascular Repair (TEVAR) was performed to dilated the coartation in this patient. Post TEVAR procedure peak systolic gradient reduced from 51 mmHg to 4 mmHg. Discussion CoA are one of the causes of secondary hypertension. Uncommonly resistant hypertension can occur in CoA. Early diagnosis and prompt treatment are important for CoA. In this patient the CoA already caused LVH, and if left untreated it can lead more severe complication such as heart failure, and premature coronary artery disease and death.

Comparing the performance of the novel FAMCAT algorithms and established case-finding criteria for familial hypercholesterolaemia in primary care

ObjectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder causing premature coronary heart disease (CHD) and death. We have developed the novel Familial Hypercholesterolaemia Case Ascertainment Tool (FAMCAT 1) case-finding algorithm...

4250Sports-related sudden cardiac arrest in Germany

Abstract Background Knowledge about causes of sports-related sudden cardiac arrest (SrSCA) may influence national strategies to prevent such events. Purpose We established a prospective registry on SrSCA to estimate the incidence and in particular describe the etiologies of SrSCA in the general population in Germany. Methods The registration of SrSCA based upon 4 pillars: a) a web-based platform to record SrSCA cases in competitive and recreational athletes, b) media-monitoring and c) a cooperation with the German Resuscitation Registry as well as d) 15 institutes of forensic medicine. Results After an observation period of 6 years, a total of 349 cases was recorded (mean age 48.0±12.7 years) of which 109 subjects survived. Most of the cases occurred during non-elite competitive or recreational sports. Bystander cardiopulmonary resuscitation (CPR) was initiated in 262 cases (75%), however rhythm analysis and defibrillation (if indicated) was mainly performed by medical service. In subjects ≤35 years, premature coronary artery disease (CAD) and sudden arrhythmic death syndrome (SADS) prevailed, followed by myocarditis. In athletes ≥35 years, CAD predominated. Conclusion The prevalence of cardiac pathologies in young athletes seems to vary across different countries. CAD represents the most common cause of SrSCA in the general population of Germany, highlighting the need for a targeted cardiovascular risk evaluation including young athletes. Public education on basic life support including the appropriate use of an automated external defibrillator (AED) may further decrease the burden of sudden cardiac death. Acknowledgement/Funding Funding from the German Heart Foundation

Carotid artery plaques – Are risk factors the same in men and women with familial hypercholesterolemia?

High low-density lipoprotein (LDL)-cholesterol levels are a major cause of premature coronary heart disease (CHD) and death in patients with familial hypercholesterolemia (FH). It is uncertain whether these risk factors affect men and women equally. We aimed to compare the risk factors of carotid plaques, which are reliable surrogates of coronary atherosclerosis, in men and women with FH. 154 patients with FH (40.9% men) were included, diagnosed according to Simon Broome criteria. Carotid plaques were assessed by ultrasound. In women multiple logistic regression analysis revealed that systolic blood pressure, high-density lipoprotein-cholesterol (HDL-C), apolipoprotein (apo) A1, and alanine aminotransferase (ALT) were associated with the presence of carotid plaques. In this female cohort, the age adjusted odds ratio for the increase of HDL-C by 1 standard deviation was related to a 55% decrease in the odds of having carotid plaques (p=0.01) and the age adjusted odds ratio for the increase of ALT by 1U/L was related to a 7% in the increase odds of having carotid plaques (p=0.02). In men, in multiple logistic regression analysis only apo B concentration was significantly related to carotid plaque presence. The odds ratio for the increase of apo B by 1mg/dl corresponded to a 4% increase in the odds of having carotid plaques (p=0.01) and, interestingly, in men not treated with statin, this ratio reached 8% (p=0.04). In summary, our study suggests a difference in risk factors of carotid artery plaques between men and women with FH.

Abstract 18995: Statins in Familial Hypercholesterolemia - Effects on Coronary Artery Disease and All-cause Mortality

Introduction: Heterozygous familial hypercholesterolemia (heFH) is characterized by high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk for premature coronary artery disease (CAD) and death. Reduction of CAD and mortality by statins has not been properly quantified in heFH. The aim of the current study is to determine the effect of statins on CAD and mortality in heFH. Methods: All adult heFH patients identified by the Dutch FH screening program between 1994 and 2014 and registered in the PHARMO Database Network were eligible. Of these patients we obtained hospital, pharmacy (in- and outpatient), and mortality records in the period between 1995 and 2015. The effect of statins (time-varying) on CAD and all-cause mortality was determined using a Cox proportional hazard model, while correcting for the use of other lipid-lowering therapy, thrombocyte aggregation inhibitors, antihypertensive and antidiabetic medication (all time-varying). Furthermore, we used inverse probability for treatment weighting (IPTW) to account for differences between statin-treated and untreated patients regarding history of CAD before follow-up, age at start of follow-up and age of screening, as well as body mass index, LDL-C and triglycerides. Results: Of the 25,479 identified heFH patients, 11,021 gave informed consent to obtain their medical records, of whom 2,447 could be retrieved. We excluded 766 patients younger than 18. The remaining 1,681 heFH patients comprised our study population and these had very similar characteristics as compared to the 23,798 excluded FH patients, e.g. mean (SD) LDL-C levels were 214 (74) vs. 203 (77) mg/dL. Among 1,151 statin users, there were 133 CAD events and 15 deaths during 10,115 statin treated person-years, compared to 17 CAD events and 9 deaths during 4,965 person-years in 530 never statin users (combined rate: 14.6 vs. 5.2, respectively, p<0.001). After applying IPTW to account for indication bias and correcting for use of other medications, the hazard ratio of statin use for CAD and all-cause mortality was 0.61 (0.40 - 0.93). Conclusions: In heFH patients, statins lower the risk for CAD and mortality by 39%.

Future trends and inequalities in premature coronary deaths in England: Modelling study

Coronary heart disease (CHD) is a major cause of premature mortality, particularly in deprived groups. Might recent declines in overall mortality obscure different rates of decline among social strata, creating potentially misleading views on inequalities? We used a Bayesian analysis of an age-period-cohort model for the English population. We projected age-specific premature CHD mortality (ages 35-74) by gender and area-based deprivation status for the period 2007-2035, using 1982-2006 as the input. Deprivation status was measured by Index of Multiple Deprivation quintiles, which aggregate seven types of deprivation, including health and income. We analysed inequality in premature CHD mortality. We investigated the annual changes in inequality and the contributions of changes in each IMDQ to the overall annual changes, using both absolute (probability) and relative (logit) scales. We quantified inequality using the statistical variance in the probability of premature death among deprivation quintiles. The overall premature CHD mortality trends conceal marked heterogeneities. Our models predict more rapid declines in premature CHD mortality for the most affluent quintiles than for the most deprived (annualized rate of decline 2006-2025, 7.5% [95% Credible Interval 4.3-10.5%] versus 5.4% [2.2-8.7%] for men, and 6.3% [3.0-9.9%] versus 5.9% [1.5-10.8%] for women). For men, the posterior probability that the rate of decline is greater for the most affluent was 82%. Variance in premature CHD mortality across deprivation quintiles was projected to decrease by approximately 81% [28-95%] among men and by 89% [30-99%] among women. This decrease was particularly driven by the most deprived groups due to their higher premature death rates. However, relative inequality was projected to rise by 93% among men [81-125%] and rise by 13% [-25-58%] among women. These increases are also mostly influenced by the most deprived, reflecting their slower declines in premature deaths. Overall, premature coronary death rates in England continue to decline steeply. Absolute inequalities are decreasing, reflecting declines in the high premature mortality in deprived groups. However, relative inequalities are projected to widen further, reflecting slower mortality declines in the most deprived groups. More aggressive and progressive prevention policies are urgently needed.

Familial hypercholesterolemia and estimation of US patients eligible for low-density lipoprotein apheresis after maximally tolerated lipid-lowering therapy

Familial hypercholesterolemia (FH), an autosomal-dominant inherited disorder, can occur in either the heterozygous (HeFH) or homozygous (HoFH) state, and is characterized by high levels of serum low-density lipoprotein cholesterol (LDL-C). Although potent statins and maximally tolerated lipid-lowering therapy (LLT) have greatly reduced the risk of premature coronary heart disease (CHD) and death, all patients with HoFH and many with severe HeFH remain far from treatment goals and are thus at risk of cardiovascular disease. LDL apheresis is the treatment of choice for these patients but remains underutilized. No formal studies or epidemiologic data have estimated the prevalence of HoFH. An HeFH prevalence of 1:500 and a simplified Hardy-Weinberg equilibrium model was used to determine the probability of finding HoFH as 1:1 million in the general population. AUS population of approximately 314.8 million was used to determine the number of cases of HoFH and HeFH. The following key parameters were used to estimate the prevalence of severe HeFH: baseline pretreatment LDL-C level and distribution of patients with FH, posttreatment LDL-C level and distribution after maximally tolerated LLT, and baseline percentage of patients with HeFH who have CHD. We assumed an HeFH prevalence of 1:500 and used statistics for a Gaussian distribution after the posttreatment means and standard deviations of LDL-C levels in patients with HeFH receiving maximally tolerated LLT, as has been documented by data from clinical trials and cross-sectional studies. These estimates do not include the statin-intolerant population. The objective of this analysis was to determine the prevalence of the US population with severe HeFH with or without CHD who still will be eligible for LDL apheresis despite maximally tolerated LLT. We estimated that there are 315 US patients with HoFH and 650,000 with HeFH. The estimated prevalence of the severe HeFH population eligible for apheresis is approximately 1:20,000 (range, 1:11,700-1:62,500). This estimate suggests that, based on the efficacy of maximally tolerated LLT and CHD status, approximately 15,000 (approximately 2.4%) of the 625,000 patients with HeFH who are maximally treated will still be eligible for LDL apheresis.

Autosomal Dominant Hypercholesterolemia: Needs for Early Diagnosis and Cascade Screening in the Tunisian Population

Autosomal dominant hypercholesterolemia (ADH) is characterized by an isolated elevation of plasmatic low-density lipoprotein (LDL), which predisposes to premature coronary artery disease (CAD) and early death. ADH is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). Early diagnosis and initiation of treatment can modify the disease progression and its outcomes. Therefore, cascade screening protocol with a combination of plasmatic lipid measurements and DNA testing is used to identify relatives of index cases with a clinical diagnosis of ADH. In Tunisia, an attenuated phenotypic expression of ADH was previously reported, indicating that the establishment of a special screening protocol is necessary for this population.

Preoperative Screening for Obstructive Sleep Apnea in Morbidly Obese Patients

In the western world, obesity is considered a key health problem. It has been estimated that more than two thirds of North Americans are overweight or obese and almost 34% of adults and 15% to 20% of children and adolescents of the US population are obese. Obesity has long been recognized as a predecessor of morbidity and premature mortality. It is frequently associated with a higher incidence of hypertension, lethal cardiac dysrhythmia, ischemic heart disease, and premature coronary death. Other related medical problems include hyperglycemia, diabetes mellitus, dyslipidemia, gall bladder disease, nonalcoholic fatty liver disease, stroke, degenerative joint disease, and obstructive sleep apnea (OSA). In addition to a poor quality of life; obesity is associated with hormonal changes that can lead to an increased likelihood of malignant tumors. Uterine and breast tumors have been documented in obese females. Similarly, a higher incidence of renal and esophageal carcinoma is reported in obese males compared to the normal weight population. Data showed that obesity was responsible for 365,000 preventable deaths in 2000. Given the increasing risk with comorbidity, the standard definition of morbid obesity was modified to incorporate patients of body mass index (BMI)Z35 kg/m with concomitant obesity-related disease. One of the major health care expenditures in the coming 2 decades will be the treatment of metabolic disease associated with obesity. With the increased life expectancy and

Screening for familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by increased plasma concentrations of low density lipoprotein (LDL) cholesterol leading to atherosclerosis and premature coronary heart disease (CHD) and death. The clinical diagnosis of FH is based on a personal and family history, physical examination findings and LDL-cholesterol concentrations. FH is primarily caused by mutations in the LDL-receptor gene (LDLR), and less frequently by mutations in genes for APOB and the more recently identified PCSK9. Lifestyle modification and pharmacotherapy can delay or prevent the onset of CHD in FH. It is estimated that only 20% of cases have been diagnosed in Australia and that the majority are inadequately treated. Screening options for FH include population screening (of children or adults), targeted screening of patients with premature CHD and their relatives, or opportunistic screening such as flagging laboratory lipid reports. Cascade screening, a form of targeted screening, is an ethically acceptable, cost-effective strategy for the identification of FH. However, for screening to be successful, medical practitioners need to be aware of the signs and diagnosis of FH and the benefits of early treatment.

Trastornos cardiovasculares y enfermedad reumática

Resumen La enfermedad cardiovascular es un problema frecuente e insuficientemente reconocido en pacientes con trastornos reumaticos sistemicos. Los pacientes pueden presentar una enfermedad asociada a afeccion cardiaca en el momento del diagnostico o en una fase posterior del curso de la enfermedad. Las manifestaciones varian segun la enfermedad de que se trate, y todas las estructuras del corazon pueden verse afectadas y pueden causar morbilidad y mortalidad importantes. Las manifestaciones de la enfermedad cardiaca en estos pacientes van de subclinicas a graves y pueden requerir un tratamiento inmunosupresor agresivo. La deteccion temprana es importante para instaurar con rapidez un tratamiento apropiado. El tratamiento de la afeccion cardiaca asociada a la enfermedad se basa en la gravedad; las manifestaciones mas graves requieren a menudo un tratamiento combinado con corticoides y farmacos citotoxicos. Se ha identificado de manera creciente aterosclerosis prematura en los pacientes con lupus eritematoso sistemico y artritis reumatoide, lo que puede conducir a una muerte coronaria prematura respecto a la poblacion general. Un control agresivo de la inflamacion sistemica en estas enfermedades puede conducir a reducir el riesgo de cardiopatia isquemica. Aunque el tratamiento agresivo de la enfermedad reumatica primaria se ha asociado a una reduccion de las tasas de mortalidad, no se han formulado directrices especificas para la prevencion de la cardiopatia isquemica en este grupo de pacientes y las recomendaciones actuales incluyen el control agresivo y el seguimiento de los factores de riesgo tradicionales.

Cardiovascular Disorders and Rheumatic Disease

Cardiovascular disease is a common and under-recognized problem in patients with systemic rheumatic conditions. Patients may present with disease associated heart involvement at the time of diagnosis or later in the course of the illness. The manifestations vary by disease, and all structures in the heart can be affected and may result in significant morbidity and mortality. Manifestations of cardiac disease in these patients range from subclinical to severe and may require aggressive immunosuppressive therapy. Early recognition is important for prompt institution of appropriate therapy. Treatment of disease associated cardiac involvement is based on severity of disease with more severe manifestations often requiring a combination of corticosteroid and cytotoxic agent. Premature atherosclerosis has been increasingly recognized in patients with systemic lupus erythematosus and rheumatoid arthritis and may result in premature coronary death when compared to the general population. Aggressive control of systemic inflammation in these diseases may result in a reduction in the risk of ischemic heart disease. Although aggressive treatment of the primary rheumatic disease has been associated with an improvement in mortality rates, specific guidelines for prevention of ischemic heart disease in this group of patients have not been formulated and recommendations at this time include aggressive control and monitoring of traditional risk factors.

Cascade Screening for Familial Hypercholesterolemia (FH)

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by abnormally high concentrations of low-density lipoprotein (LDL) cholesterol in the blood, which predisposes affected persons to premature coronary heart disease (CHD) and death. FH is one of the most common inherited disorders and the most common one known to cause premature CHD in people of European descent. The vast majority of people with FH have inherited a single mutation from one parent in either the LDL receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Despite their greatly elevated risk of coronary heart disease, most individuals with FH remain undiagnosed, untreated, or inadequately treated. Cascade screening is a mechanism for identifying people at risk for a genetic condition by a process of systematic family tracing. The National Institute for Health and Clinical Excellence in the United Kingdom recommends cascade screening of close biological relatives of people with a clinical diagnosis of FH in order to effectively identify additional FH patients. The ultimate goal of this testing is to reduce morbidity and mortality from heart disease in persons with FH through early diagnosis and effective disease management. The goal of this article is to outline the available evidence on the clinical validity and utility of cascade screening for FH, while emphasizing the availability, usefulness, and recommendation for including DNA testing (if the disease-causing mutation has been identified).

The prevalence of angina symptoms and association with cardiovascular risk factors, among rural, urban and rural to urban migrant populations in Peru

BackgroundRural-to-urban migration in low- and middle-income countries causes an increase in individual cardiovascular risk. Cost-effective interventions at early stages of the natural history of coronary disease such as angina may stem an epidemic of premature coronary deaths in these countries. However, there are few data on the prevalence of angina in developing countries, whilst the understanding the aetiology of angina is complicated by the difficulty in measuring it across differing populations.MethodsThe PERU MIGRANT study was designed to investigate differences between rural-to-urban migrant and non-migrant groups in specific cardiovascular disease risk factors. Mass-migration seen in Peru from 1980s onwards was largely driven by politically motivated violence resulting in less 'healthy migrant' selection bias. The Rose angina questionnaire was used to record chest pain, which was classified definite, possible and non-exertional. Mental health was measured using the General Health Questionnaire (GHQ-12). Mantel-Haenszel odds ratios (adjusted for age, sex, cardiovascular disease risk factors and mental health) were used to assess the risk of chest pain in the migrant and urban groups compared to the rural group, and further to assess the relationship (age and sex-adjusted) between risk factors, mental health and chest pain.ResultsCompared to the urban group, rural dwellers had a greatly increased likelihood of possible/definite angina (multi-adjusted OR 2.82 (1.68- 4.73)). Urban and migrant groups had higher levels of risk factors (e.g. smoking - 20.1% urban, 5.5% rural). No diabetes was seen in the rural dwellers who complained of possible/definite angina. Rural dwellers had a higher prevalence of mood disorder and the presence of a mood disorder was associated with possible/definite angina in all three groups, but not consistently with non-exertional chest pain.ConclusionRural groups had a higher prevalence of angina as measured by Rose questionnaire than migrants and urban dwellers, and a higher prevalence of mood disorder. The presence of a mood disorder was associated with angina. The Rose angina questionnaire may not be of relevance to rural populations in developing countries with a low pre-test probability of coronary disease and poor mental health.