Double heterozygous familial hypercholesterolaemia: Case series, genetics and Cascade screening of families

Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism characterized by high levels of LDL-cholesterol (LDL-C) in the blood. Studies identified more than 1,000 mutations of the LDLR gene in FH patients with incidence rates between 1: 500 and 1: 300. The mutation that occurs primarily in: LDLR, apoB, PCSK9, LDLRAP1 genes, 80% of which were detected the LDLR gene mutation. Nowaday, FH disease has not been paid much attention, leading to a delay in treatment. Objectives: identify mutations in other family members of the patient FH. Subjects and Methods: 14 family members of FH patients were gene analyzed, identified mutations on exons 4, 9 LDLR genes. Results: 11/15 family members carrying heterozygous mutations on exon 4 and exon 9 of LDLR gene. Patient and 1 family member detected and treated late, leading to complications of myocardial infarction. Conclusion: Therefore, Cascade screening of patient's family members has an important role in early detection, genetic counseling and treatment, even in cases where pedigree members do not have xanthomas and no increase or slight increase in blood lipids. This is the basis for early counseling and treatment for members with mutations, reducing the risk of coronary artery diseases in the future.

105 An intriguing case of pericardial effusion after acute coronary syndrome

Aims Left ventricular free wall rupture is one of the mechanical complications of myocardial infarction with an incidence of 2–4%. Sometimes the myocardial rupture hasn’t an immediate fatal evolution, nor is easy to be diagnosed because it is contained by the pericardium and thrombus formation, leading to pseudoaneurysm of the left ventricle. Pseudoaneurysms need a prompt surgical correction for their high risk of rupture both in the acute phase and later. Methods and results A 57 years old, smoker, woman with no previous cardiological history was admitted to our cardiological department for acute coronary syndrome with persistent ST segment elevation involving the postero-lateral wall (door to balloon time about 10 h, Killip class I and peak hs-TnI value was 27.67 ng/ml n.v. ˂0.02 ng/ml). The echocardiography showed mild left ventricular disfunction (LV EF 45%), postero lateral akinesia and moderate mitral regurgitation; ubiquitous pericardial effusion (1 cm) was present, particularly along the anterior left ventricular wall, with irregular echo-dense aspect. She underwent urgent coronarography that showed a critical stenosis of the distal third of the left circumflex and a thrombotic occlusion of the first marginal branch. The distal circumflex was treated with angioplasty and stent implantation but we couldn’t obtain the reperfusion of the marginal branch. Post procedural echocardiogram was unchanged and no free wall rupture was detected. 7 days after the admission, the patient showed persistent elevation of white blood count and CRP and developed fever, promptly empirically treated with a cephalosporin (blood cultures collected before were negative). After two new episode of fever with persisting biochemical flogistic parameters, a rheumatologic cause of the pericardial effusion was considered in the presence of positive antinuclear antibodies suggesting the diagnosis of Systemic Lupus Erythematosus. Steroidal therapy was prescribed which caused clinical improvement without complete resolution of the pericardial effusion. On day 20 of hospital stay a new echocardiographic evaluation showed a discontinuation of the postero lateral myocardial wall (Figure 1), about 1 cm in width, widely communicating with the left ventricular cavity and suggestive for a left postero-lateral ventricular pseudoaneurysm. The patient underwent surgical intervention and it was possible to expose a big clot occluding the pseudoaneurysmatic cavity communicating with the left ventricular chamber through an inlet about 1 cm in diameter, that was repaired with a bovine pericardial patch (Bard Sauvage technique). After surgery the patient was supported with an IABP and inotropes and was discharged to a rehabilitation structure on day 29 of hospital stay. Four months after the hospital discharge the patient died for a recently diagnosed pancreatic cancer. Conclusions Pseudoaneurisms are life-threatening complications of myocardial infarction that sometimes are hardly diagnosed. When correctly recognized surgical correction can lead to a good prognosis.

Intraoperative postinfarct ventricular septal rupture during coronary bypass grafting

We report a case of a ventricular septal rupture (VSR) which occurred during coronary artery bypass grafting (CABG) operation. The procedure took place 5 days after ST-elevation myocardial infarction of the inferior wall. The VSR repair was not performed at the time of the CABG operation. The intention was to wait until scar formation occurs to facilitate the repair. The patient was supported with venoarterial extracorporeal membranous oxygenation (VA-ECMO) and additional intra-aortic balloon pump (IABP) on intensive care unit. Ten days after CABG the patient underwent a successful VSR repair and 5 days later was weaned from VA-ECMO. He was discharged from hospital 6 weeks after the initial CABG. This case report underlines the importance of VA-ECMO and a multidisciplinary approach with frequent examination of haemodynamic state in the treatment of patients with mechanical complications of myocardial infarction who are not suitable for immediate repair.

left ventricular apex rupture in STEMI

Mechanical complications of myocardial infarction are rare. However, the consequences are catastrophic if missed; here, we present a case highlighting the red flags that can guide the diagnosis of mechanical complications of MI.

Mechanical complications of myocardial infarction

Mechanical complications of acute myocardial infarction are those caused by ruptures or geometrical distortions of cardiac structures. Cardiac ruptures are currently rare complications, less than 1% in the era of reperfusion therapy, but often with catastrophic consequences, and include free wall rupture, the most frequent, interventricular septal rupture, and papillary muscle rupture. The clinical presentation may vary from unusually milder presentations to sudden presentation with severe hypotension, cardiogenic shock or electro-mechanical dissociation. Therefore, immediate diagnosis is key, generally by echocardiography, followed by resuscitation and/or hemodynamic support, pharmacological or mechanical. In the majority of cases, these complications require urgent surgical repair. In some cases percutaneous therapies may be a valid alternative. Mechanical complications due to geometrical distortion include functional ischemic mitral regurgitation, ventricular aneurysms and intraventricular thrombosis. These complications are more frequent than ruptures and, in general, less severe, ranging from accidental findings by imaging techniques in asymptomatic patients to advanced heart failure. Most often these complications can be treated medically and occasionally may need surgical therapy.

Milking effect in coronary angiography due to left ventricular free wall rupture

Left ventricular free wall rupture is a potentially fatal complication of myocardial infarction. The prompt diagnosis of this condition is of high clinical importance. The patient, a 45-year-old man, with a history of hypertension and symptoms of chest pain and shock status, was admitted in the emergency department. Due to electrocardiographic changes consistent with myocardial infarction, he was transferred to cath lab for primary angioplasty (PCI). The initial echocardiographic assessment did not indicate any evidence of mechanical complication of myocardial infarction. Clinical condition of the patient did not improve after primary PCI. During the primary PCI, diagnosis of milking effect in the coronary arteries engendered suspicion of potential mechanical complications of myocardial infarction. Re-evaluation by echocardiography revealed left ventricular free wall rupture. Observing milking effect in angiography can be a result of mechanical complications of myocardial infarction.

DEVELOPMENT OF A MODEL FOR DIAGNOSIS BASED ON THE METHOD OF RANKING ALTERNATIVES ON A SET OF LINGUISTIC VECTOR ESTIMATES

В статье рассматривается один из подходов к анализу и принятию решения по постановке диагноза пациентам, имеющим заболевания щитовидной железы, основанный на многокритериальном методе - методе ранжирования альтернатив на множестве лингвистических векторных оценок. В работе приводится теоретический анализ ситуации в мире в области эндокринных заболеваний и обоснование выбора метода. Показывается преимущество применения именно метода ранжирования альтернатив на множестве лингвистических векторных оценок в области медицины. Проведен наглядный расчет случая с входными данными пациента и выведен диагноз. Таким же образом были проведены расчеты с тестовой выборкой пациентов. По результатам получены высокие прогностические способности для использования модели. Выведены математические модели, которые в последствии реализованы в информационно-программное обеспечение, повышающее эффективность процесса прогноза осложнений инфаркта миокарда. Внедрение разработанной системы позволит медицинским организациям повысить оперативность и точность предварительной диагностики пациентов The article considers one of the approaches to the analysis and decision - making on the diagnosis of patients with thyroid diseases, based on a multi-criteria method-the method of ranking alternatives on a set of linguistic vector estimates. The paper provides a theoretical analysis of the world situation in the field of endocrine diseases and justifies the choice of the method. The advantage of using the method of ranking alternatives on a set of linguistic vector estimates in the field of medicine is shown. A visual calculation of the case with the patient's input data was performed and the diagnosis was derived. In the same way, calculations were performed with a test sample of patients. Based on the results, we obtained high predictive abilities for using the model. Mathematical models are derived, which are subsequently implemented in information software that increases the efficiency of the process of predicting complications of myocardial infarction. Implementation of the developed system will allow medical organizations to increase the efficiency and accuracy of preliminary diagnostics of patients