Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry.

Familial hypercholesterolemia (FH) is an underdiagnosed genetic inherited condition that may lead to premature coronary artery disease (CAD). FH has an estimated prevalence in the general population of about 1:313. However, its prevalence in patients with premature STEMI (ST-elevation myocardial infarction) has not been widely studied. This study aimed to evaluate the prevalence of FH in patients with premature STEMI. Cardiovascular risk factors, LDLc (low-density lipoprotein cholesterol) evolution, and differences between genders were also evaluated. Consecutive patients were referred for cardiac catheterization to our center due to STEMI suspicion in 2018. From the 80 patients with confirmed premature CAD (men < 55 and women < 60 years old with confirmed CAD), 56 (48 men and eight women) accepted to be NGS sequenced for the main FH genes. Clinical information and DLCN (Dutch Lipid Clinic Network) score were analyzed. Only one male patient had probable FH (6-7 points) and no one reached a clinically definite diagnosis. Genetic testing confirmed that the only patient with a DLCN score ≥6 has HF (1.8%). Smoking and high BMI the most frequent cardiovascular risk factors (>80%). Despite high doses of statins being expected to reduce LDLc levels at STEMI to current dyslipidemia guidelines LDL targets (<55 mg/dL), LDLc control levels were out of range. Although still 5.4 times higher than in general population, the prevalence of FH in premature CAD is still low (1.8%). To improve the genetic yield, genetic screening may be considered among patients with probable or definite FH according to clinical criteria. The classical cardiovascular risk factors prevalence far exceeds FH prevalence in patients with premature STEMI. LDLc control levels after STEMI were out range, despite intensive hypolipemiant treatment. These findings reinforce the need for more aggressive preventive strategies in the young and for intensive lipid-lowering therapy in secondary prevention.

Consenso de expertos en la asistencia multidisciplinaria y el abordaje integral de la insuficiencia cardiaca. Desde el alta hospitalaria hasta la continuidad asistencial con primaria / Expert consensus on multidisciplinary management and integrated approaches in heart failure. Continuity of care from hospital discharge to primary care

La insuficiencia cardiaca es una enfermedad que precisa un tratamiento multidisciplinario, dadas la diversidad de causas y entornos clínicos implicados que las tratan y las diferentes estrategias terapéuticas que precisan la participación indispensable de diversas disciplinas. La presencia en los servicios de cardiología de unidades de insuficiencia cardiaca centradas en el tratamiento de los pacientes con esta afección y unidades de rehabilitación cardiaca que, entre sus indicaciones para la reducción de la morbimortalidad, también están implicadas en la atención de esos mismos pacientes puede causar dificultades de coordinación y pérdida de una atención integral centrada en el paciente. Por estos motivos, en el presente documento se plantea una estrategia de coordinación entre las diferentes unidades implicadas en el tratamiento de los pacientes dentro de los servicios de cardiología y la continuidad asistencial con atención primaria, tanto tras haber conseguido la estabilidad como la interrelación para una coordinación posterior más efectiva

Heart failure is a condition that requires a multidisciplinary approach to treatment because of the wide range of causes and clinical contexts that may be involved and because the diverse treatment strategies used necessitate the participation of multiple disciplines. In cardiology departments, the presence of both heart failure units that focus on the treatment of affected patients and cardiac rehabilitation units that, as well as targeting reductions in morbidity and mortality, are also involved in caring for the same patients can create difficulties for coordination and can result in the loss of comprehensive patient-centered care. For these reasons, this paper presents a strategy for coordinating the different units involved in patient management in cardiology departments and for ensuring continuity of care in primary care, both immediately after achieving stabilization and subsequently, when these interactions are important for effective coordination

Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and risk for early-onset coronary artery disease.

The nuclear-factor kappa-beta (NF-KB) is a driver of inflammation, and plays an important role in the pathogenesis of atherosclerosis and coronary artery disease (CAD). Early-onset CAD is defined as a coronary ischaemic episode at an age ≤55 years, and in our population was strongly associated with male sex and smoking. Our aim was to determine whether common variants in three NF-KB genes were associated with early-onset CAD. We studied 609 patients with early-onset CAD and 423 healthy controls, all male. Allele and genotype frequencies for the NFKB1 rs28362491 (-94 delATTG) and NFKBIA rs8904 were not significantly different between the two groups. For the NFKBIZ rs3217713, the deletion allele was significantly more frequent in the patients than in controls (0.27 vs. 0.22; p = 0.004). Deletion-carriers were more frequent in the patients (p < 0.001), with an OR = 1.48 (95%CI = 1.15-1.90). We performed a multiple logistic regression (linear generalized model) with smoking, hypercholesterolemia, type 2 diabetes, hypertension, and the rs3217713 deletion carriers remained significantly associated with early-onset CAD (p = 0.01). In our population, the NFKBIZ variant was an independent risk factor for developing early-onset CAD.

Insuficiente control de parámetros lipídicos en pacientes con enfermedad coronaria: un problema por resolver / Insufficient lipid control in patients with coronary artery disease: An unresolved problem

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Double trouble.

A 18-year-old boy presented for cardiological evaluation for a previous pleuritic chest pain. Physical exam was normal and ECG showed an early repolarization pattern. Transthoracic echocardiogram revealed an ondulating structure on the left side of the interatrial septum (IAS), without other abnormalities. Transoesophageal study was performed in order to define better the IAS anatomy and assess for other anomalies. It showed a high mobile membrane adjacent and parallel to the IAS with flow into its chamber. Intravenous agitated saline contrast injection excluded the presence of patent foramen ovale (PFO) or interatrial septum defect. We review literature about atrial septal malformations.

Prevalence and outcome of newly detected diabetes in patients who undergo percutaneous coronary intervention.

AIMS: The beneficial effect of specific measures in patients with newly detected diabetes during percutaneous coronary intervention (PCI) has been poorly studied. Here, we determined the prevalence of newly detected diabetes in a cohort of patients who underwent PCI and analysed their clinical outcome. METHODS AND RESULTS: A prospective study included patients without previous diagnosis of diabetes that were referred for PCI between November 2005 and May 2006. Major cardiac events were registered after admission and during 12 months of follow-up, and oral glucose tolerance was tested at 15 days after hospital discharge. Six hundred and sixty-two consecutive patients were referred to our hospital for PCI. The distribution of the glycometabolic state of the entire population was (95% CI): known diabetes 28.8% (25.2-32.6), newly detected diabetes 16.2% (13.1-19.8), impaired glucose tolerance 24.5% (20.8-28.5), impaired fasting glucose 1% (0.4-2.4), and normal glucose regulation 29.5% (25.5-33.7). In a multivariable analysis, the presence of newly detected diabetes was not an independent predictor of cardiac events after 1 year of follow-up. CONCLUSION: The prevalence of diabetes in patients who underwent PCI was very high (45%), 35% of which was patients with newly detected diabetes. In our series newly detected diabetes was not an independent predictor of outcome at 12 months. Nevertheless, this finding requires independent confirmation in other series to draw general conclusions on the whole spectrum of percutaneous interventions.

Development of severe and persistent hypoxemia seven months after orthotopic heart transplantation.

We report the case of a 57-year-old man who underwent orthotopic heart transplantation because of prior myocardial infarction and cardiogenic shock. The patient developed refractory hypoxemia 7 months after transplantation, secondary to a right to left shunt across a patent foramen ovale related to severe tricuspid regurgitation resulting from repeated control biopsies. Percutaneous closure of the foramen ovale was performed.

Miocardiopatía producida por feocromocitoma o miocardiopatía por estrés secundaria a feocromocitoma: ¿necesidad de una nueva denominación? / Pheochromocytoma-related cardiomyopathy or stress cardiomyopathy secondary to pheochromocytoma: is new terminology needed?

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Intimal dehiscence during endovascular treatment of thoracic aortic dissection.

Endovascular treatment of thoracic aortic pathology has become a valuable alternative therapeutic option to open surgery, however complications both during implantation and the postoperative period may occur. In this case report we present an intimal dehiscence during endovascular procedure. Diagnosis was made by transoesophageal echocardiography.