scholarly journals Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

2022 ◽  
Vol 17 (4) ◽  
pp. 74-78
Author(s):  
N. G. Lozhkina ◽  
A. N. Spiridonov
Keyword(s):  
Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Cholesterol Metabolism ◽  
Single Gene ◽  
Low Density Lipoproteins ◽  
Dominant Disease ◽  
Appropriate Therapy

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

scholarly journals Monogenic Causes of Strokes

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1855
Author(s):  
Justyna Chojdak-Łukasiewicz ◽  
Edyta Dziadkowiak ◽  
Sławomir Budrewicz
Keyword(s):  
Autosomal Recessive ◽  
Genetic Factors ◽  
Autosomal Dominant ◽  
Small Vessel Disease ◽  
Clinical Phenotype ◽  
Single Gene ◽  
Monogenic Disorders ◽  
Single Gene Disorders ◽  
Appropriate Therapy

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. The most common single-gene diseases connected with strokes are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Fabry disease, mitochondrial myopathy, encephalopathy, lactacidosis, and stroke (MELAS) and a lot of single-gene diseases associated particularly with cerebral small-vessel disease, such as COL4A1 syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). In this article the clinical phenotype for the most important single-gene disorders associated with strokes are presented. The monogenic causes of a stroke are rare, but early diagnosis is important in order to provide appropriate therapy when available.

Abstract 13703: Patients With Familial Hypercholesterolemia Are Protected Against Type II Diabetes - a Cross-sectional Study in 63,000 Individuals Tested for the Presence of LDL Receptor Mutations

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Joost Besseling ◽  
Joep Defesche ◽  
John J Kastelein ◽  
Barbara A Hutten ◽  
Gerard K Hovingh
Keyword(s):  
Familial Hypercholesterolemia ◽  
Cholesterol Metabolism ◽  
Single Gene ◽  
Ldl Receptor ◽  
Cross Sectional Study ◽  
Dna Testing ◽  
Cross Sectional ◽  
Develop Type ◽  
Statin Use

Introduction: Familial Hypercholesterolemia (FH) is a prevalent single gene disorder characterized by decreased transmembrane cholesterol transport (TCT). In clinical practice, it was noticed that FH patients are less prone to develop type 2 diabetes mellitus (T2DM). In contrast, statin use increases TCT and, intriguingly, increases risk for T2DM. Hypothesis: Hence, we hypothesized that perturbations in TCT contribute to the development of T2DM, and we investigated whether T2DM prevalence is indeed lower in FH. Methods: All Dutch individuals who underwent DNA testing for FH between 1994 and 2014 were enrolled. We compared T2DM prevalence between FH patients and unaffected relatives. Additionally, we tested whether more severe FH mutations were associated with an even lower risk for T2DM; i.e. LDLR vs. APOB, and receptor-negative vs. receptor-deficient LDLR mutations, with unaffected relatives as reference, after adjustment for potential confounders. Results: Unadjusted, the prevalence of T2DM proved to be 1.8% in 25,137 FH patients (n=440) (adjusted: 1.4%) versus 2.9% in 38,183 unaffected relatives (n=1,119) (p<0.001). The adjusted odds ratios for T2DM in LDLR vs. APOB, and in receptor-negative vs. receptor-deficient LDLR mutation carriers were 0.44 (95% CI: 0.37 - 0.52) vs. 0.63 (95% CI: 0.47 - 0.85), and 0.37 (95% CI: 0.28 - 0.47) vs. 0.48 (95% CI: 0.39 - 0.58), respectively, compared to unaffected relatives (p-for-trend<0.001 in both associations). Conclusions: The prevalence of T2DM in FH patients is 50% lower than in unaffected relatives. Moreover, the more severe the FH mutation, the lower the prevalence of T2DM. Together with the observed association between statin use and T2DM, our findings suggest a role for cholesterol metabolism in the pathogenesis of T2DM and point to novel targets for disease modification.

scholarly journals A clinical case of aromatase excess syndrome associated with 15Q21.2 duplication

2020 ◽  
Vol 66 (2) ◽  
pp. 79-84
Author(s):  
Yulia V. Kasyanova ◽  
Irina Yu. Chernyak ◽  
Inobatchon K. Voronina ◽  
Natalia Yu. Kalinchenko
Keyword(s):  
Clinical Case ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Review Of The Literature ◽  
Dominant Disease ◽  
Early Closure ◽  
Low Levels ◽  
Secondary Hypogonadism ◽  
Rare Autosomal Dominant Disease ◽  
Pubertal Gynecomastia

Aromatase excess syndrome (SIA) is a rare autosomal dominant disease caused by increased extraglandular conversion of androgens to estrogens. SIA is characterizedby early gonadotropin-independent hyperestrogenemia, causing pre-pubertal gynecomastia in boys and premature isosexual development in girls. Adults patients have short stature, due to the early closure of epiphyses because of hyperestrogenemia. Women usually have macromastia, endometrial hyperplastic processes and the late onset of menopause. In men, there is a moderate decrease of gonadotropins, leading to secondary hypogonadism. SIA in children can be suspected on a combination of the clinical picture of an excess of estrogens, increased levels of estrogens with low levels of gonadotropins after the exclusion of an estrogen-producing tumor. The frequency of occurrence of SIA is unknown, due to the rarity of the disease and the complexity of its molecular and genetic verification. In this article, we describe a clinical case of a 10-year-old patient with a late diagnosis of aromatase overactivity syndrome caused by a 15q21.2 microduplication of the CYP19A1 gene, and conduct a brief review of the literature.

scholarly journals Acute debut of neuroacanthocytosis in clinical practice

2016 ◽  
Vol 97 (6) ◽  
pp. 971-973
Author(s):  
K L Zagidullina ◽  
N A Popova
Keyword(s):  
Clinical Case ◽  
Autosomal Dominant ◽  
Correct Diagnosis ◽  
Cognitive Disorders ◽  
Blood Analysis ◽  
Whole Body ◽  
Laboratory Findings ◽  
Dominant Type ◽  
Dominant Disease ◽  
Almost All

Neuroacanthocytosis is a rare autosomal dominant disease, which in its clinical manifestation is characterized by choreiform hyperkinesis, mental and cognitive disorders, signs of polyneuropathy and cardiomyopathy, and the basis of the disease is presence of modified erythrocytes (acanthocytes) in peripheral blood. The disease is characterized by autosomal dominant type of inheritance (the gene was mapped on chromosome 9q21), sporadic cases are possible. Description of a clinical case of a 63-year old patient with neuroacanthocytosis delivered by an ambulance with a preliminary diagnosis of stroke is provided. The patient complained of severe general fatigue, whole body shivering, and involuntary compulsive uncontrollable movements in the limbs, body, and face. The patient noted changes in her voice, probably due to compulsive movements of her tongue, lightheadedness, and shaky walk. Almost all physical and laboratory findings were within normal. Taking into account acuteness of the disease, its attack at the time of hypertensive emergency and patient’s age, circular cause was suggested, computed tomography of the brain and magnetic resonance imaging were performed. The results of neuroimaging ruled out the pathology of cerebral circulation. Ultrasound of neck vessels revealed nothing abnormal. Purposeful repeated blood analysis revealed that 85% of erythrocytes were acanthocytes and after that the correct diagnosis was made. The peculiarities of this clinical case are acute manifestation of symptoms and relatively late debut of the disease.

scholarly journals Difficulties in clinical diagnosis the atypical form of Andersen-Tawil syndrome

2020 ◽  
pp. 76-77
Author(s):  
Д.А. Колядин ◽  
Т.В. Федотова ◽  
И.А. Кузнецова
Keyword(s):  
Dna Sequencing ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Correct Diagnosis ◽  
Periodic Paralysis ◽  
Atypical Form ◽  
Cardiac Dysrhythmias ◽  
Dominant Disease ◽  
Atypical Presentations ◽  
Rare Autosomal Dominant Disease

Синдром Андерсена-Тавила - редкое аутосомно-доминантное заболевание, при котором развиваются нарушение сердечного ритма, периодический паралич, лицевые и скелетные дизморфии. Вариабельность клинических проявлений усложняет постановку верного диагноза. В статье описывается клинический случай и анализируются особенности течения заболевания у пациента, правильный диагноз которому поставлен благодаря результатам секвенирования. Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by periodic paralysis, cardiac dysrhythmias, distinct facial and skeletal characteristics, that may be variably present in the affected members. In the article there is a clinical case with atypical presentations. The correct diagnosis has been done due to results of DNA sequencing.

scholarly journals Diagnostic Characteristics of Familial Hypercholesterolemia in Children

2020 ◽  
Vol 17 (2) ◽  
pp. 124-128
Author(s):  
Dinara I. Sadykova ◽  
Liliia F. Galimova ◽  
Eugenia S. Slastnikova
Keyword(s):  
Familial Hypercholesterolemia ◽  
Autosomal Dominant ◽  
Low Density Lipoproteins ◽  
Screening Methods ◽  
Low Density ◽  
Concentration Increase ◽  
Cardiovascular Pathology ◽  
Diagnostic Characteristics ◽  
Optimal Period ◽  
Diagnostics And Therapy

Familial hypercholesterolemia is autosomal dominant hereditary disorder developing in in humans since birth and it is characterized by low-density lipoproteins concentration increase in blood. Lack of timely diagnostics and therapy for familial hypercholesterolemia is associated with early development of atherosclerosis, cardiovascular pathology and mortality in first 30–40 days of life. Despite the fact that the optimal period for revealing of disease is childhood, diagnostics of the disease has extremely low quality among children. The article presents screening methods and criteria of familial hypercholesterolemia diagnostics among children.

Off-Pump Supraarterial Decompression Myotomy for Myocardial Bridging

2005 ◽  
Vol 8 (1) ◽  
pp. 49 ◽  
Author(s):  
Mersa M. Baryalei ◽  
Theodorus Tirilomis ◽  
Wolfgang Buhre ◽  
Stephan Kazmaier ◽  
Friedrich A. Schoendube ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Exercise Testing ◽  
Clinical Symptoms ◽  
Therapeutic Option ◽  
Median Sternotomy ◽  
Myocardial Bridging ◽  
Off Pump ◽  
Hemodynamic Compromise ◽  
Artery Disease ◽  
The Right

Background: Myocardial bridging of the left anterior descending (LAD) artery may result in clinical symptoms. Surgery with cardiopulmonary bypass (CPB) is a therapeutic option with considerable risk. We hypothesized that off-pump supraarterial myotomy could be an effective treatment modality. Methods: Between October 1998 and May 2000, 13 patients were referred for surgery. All were symptomatic despite medical therapy. Anteroseptal ischemia had been proven by thallium scintigraphy in all 13 patients, exercise testing was positive in 11. All patients were operated on with an off-pump approach after median sternotomy. Results: Mean patient age was 61 8 years (range, 43-71 years). Coronary artery disease mandating additional bypasses was present in 3 patients. The bypasses were done off pump in 2 patients. Conversion to on-pump surgery was necessary in 3 of 13 patients (23%) because of hemodynamic compromise (1 patient), opening of the right ventricle (1 patient), and injury to the LAD (1 patient). Supraarterial myotomy was performed in all patients. One patient who underwent surgery with CPB developed postoperative anteroseptal myocardial infarction. Postoperative exercise testing was performed in all patients and did not reveal any persistent ischemia. Mortality was 0%. All patients were free from symptoms and had not undergone repeat interventions after an average of 51 7 months of follow-up. Conclusions: Off-pump supraarterial myotomy effectively relieves coronary obstruction but has a certain periprocedural risk as evidenced by 1 myocardial infarction, 1 right ventricular injury, and 1 LAD injury. Long-term freedom from symptoms and from reintervention favor further investigation of this surgical therapy.

scholarly journals A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

2021 ◽  
Vol 12 (4) ◽  
Author(s):  
Joanne M. Hildebrand ◽  
Bernice Lo ◽  
Sara Tomei ◽  
Valentina Mattei ◽  
Samuel N. Young ◽  
...  
Keyword(s):  
Potential Role ◽  
Autosomal Dominant ◽  
Inflammatory Diseases ◽  
Diabetic Patients ◽  
Incomplete Penetrance ◽  
Loss Of Function ◽  
Healthy Sibling ◽  
Dominant Disease ◽  
Terminal Effector

AbstractMaturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1 damaging mutation. Interestingly, this substitution was also present in a healthy sibling. In contrast, a second very rare heterozygous damaging mutation in the necroptosis terminal effector, MLKL, was found exclusively in the diabetic family members. Aberrant cell death by necroptosis is a cause of inflammatory diseases and has been widely implicated in human pathologies, but has not yet been attributed functions in diabetes. Here, we report that the MLKL substitution observed in diabetic patients, G316D, results in diminished phosphorylation by its upstream activator, the RIPK3 kinase, and no capacity to reconstitute necroptosis in two distinct MLKL−/− human cell lines. This MLKL mutation may act as a modifier to the P33T PDX1 mutation, and points to a potential role of impairment of necroptosis in diabetes. Our findings highlight the importance of family studies in unraveling MODY’s incomplete penetrance, and provide further support for the involvement of dysregulated necroptosis in human disease.

scholarly journals Individuals with familial hypercholesterolemia have increased risk of re-hospitalization after acute myocardial infarction compared with controls

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
K Svendsen ◽  
H.W Krogh ◽  
J Igland ◽  
G.S Tell ◽  
L.J Mundal ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Cox Regression ◽  
Public Institution ◽  
University Hospital ◽  
Funding Source ◽  
Hazard Ratios ◽  
Increased Risk ◽  
University Of Oslo

Abstract Background and aim We have previously reported that individuals with familial hypercholesterolemia (FH) have a two-fold increased risk of acute myocardial infarction (AMI) compared with the general population. The consequences of having an AMI on re-hospitalization and mortality are however less known. The aim of the present study was to compare the risk of re-hospitalization with AMI and CHD and risk of mortality after incident (first) AMI-hospitalization between persons with and without FH (controls). Methods The original study population comprised 5691 persons diagnosed with FH during 1992–2014 and 119511 age and sex matched controls randomly selected from the general Norwegian population. We identified 221 individuals with FH and 1947 controls with an incident AMI registered in the Norwegian Patient Registry (NPR) or the Cardiovascular Disease in Norway Project during 2001–2017. Persons with incident AMI were followed until December 31st 2017 for re-hospitalization with AMI or coronary heart disease (CHD) registered in the NPR, and for mortality through linkage to the Norwegian Cause of Death Registry. Risk of re-hospitalization was compared with sub-hazard ratios (SHR) from competing risk regression with death as competing event, and mortality was compared using hazard ratios (HR) from Cox regression. All models were adjusted for age. Results Risk of re-hospitalization was 2-fold increased both for AMI [SHR=2.53 (95% CI: 1.88–3.41)] and CHD [SHR=1.82 (95% CI: 1.44–2.28)]. However, persons with FH did not have increased 28-day mortality following an incident AMI (HR=1.05 (95% CI: 0.62–1.78), but the longer-term (&gt;28 days) mortality after first AMI was increased in FH [HR=1.45 (95% CI: 1.07–1.95]. Conclusion This study yields the important finding that persons with FH have increased risk of re-hospitalization of both AMI and CHD after incident AMI. These findings call for more intensive follow-up of individuals with FH after an AMI. Funding Acknowledgement Type of funding source: Public Institution(s). Main funding source(s): University of Oslo and Oslo University Hospital

scholarly journals 2.5-fold increased risk of recurrent acute myocardial infarction with familial hypercholesterolemia

2020 ◽  
Author(s):  
Karianne Svendsen ◽  
Henriette W. Krogh ◽  
Jannicke Igland ◽  
Grethe S. Tell ◽  
Liv J. Mundal ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Increased Risk
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