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Inherited cardiovascular

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https://www.readbyqxmd.com/read/29890445/evidence-of-aortic-dissection-and-marfan-syndrome-in-a-mummy-from-the-capuchin-catacombs-of-palermo-sicily
#1
Stephanie Panzer, Randall C Thompson, Klaus Hergan, Albert R Zink, Dario Piombino-Mascali
The authors report on the assessment of an anthropogenic mummy of a young man from the Capuchin Catacombs of Palermo, Sicily, tentatively dated from the mid- to late 19th century AD. The mummy was investigated by full-body CT examination. CT images clearly showed aortic dissection classified as Stanford-A. Due to the relation of aortic dissection to inherited connective tissue diseases in young people, such as Marfan syndrome, conspicuous and pathological findings possibly indicating the presence of underlying Marfan syndrome were assessed...
June 8, 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29880681/a-lima1-variant-promotes-low-plasma-ldl-cholesterol-and-decreases-intestinal-cholesterol-absorption
#2
Ying-Yu Zhang, Zhen-Yan Fu, Jian Wei, Wei Qi, Gulinaer Baituola, Jie Luo, Ya-Jie Meng, Shu-Yuan Guo, Huiyong Yin, Shi-You Jiang, Yun-Feng Li, Hong-Hua Miao, Yong Liu, Yan Wang, Bo-Liang Li, Yi-Tong Ma, Bao-Liang Song
A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3 ) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane...
June 8, 2018: Science
https://www.readbyqxmd.com/read/29879569/association-of-factor-v-activity-with-risk-of-venous-thromboembolism-and-atherothrombotic-cardiovascular-events-a-retrospective-population-based-cohort-study
#3
Walid Saliba, Amir Warwar, Antonio Kotler, Shai Cohen, Nili Stein, Gad Rennert, Deborah L Ornstein, Meir Preis
INTRODUCTION: Factor V (FV) deficiency is a rare inherited coagulation disorder associated with bleeding tendency. As a result, it has been postulated that decreased FV activity may confer protection against venous thromboembolism and atherothrombotic cardiovascular events. MATERIALS AND METHODS: Using the electronic database of the largest health care provider in Israel, we identified all adult individuals who were tested for FV activity between January 2004 and June 2017...
May 31, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29878972/a-multilocus-genetic-risk-score-is-associated-with-arterial-stiffness-in-hypertensive-patients-the-care-north-study
#4
Katarzyna Polonis, Michal Hoffmann, Anna Szyndler, Jacek Wolf, Robert Nowak, Christiane Becari, Stephane Laurent, Pierre Boutouyrie, Olle Melander, Krzysztof Narkiewicz
INTRODUCTION: Arterial stiffness is recognized as an intermediate phenotype and predictor of cardiovascular disease. Arterial stiffness is complex in origin with contributions from lifestyle and genetic factors. However, the association between single nucleotide polymorphisms (SNPs) and arterial stiffness remains unclear. OBJECTIVE: The aim is to assess whether a multilocus genetic risk score (GRS), composed of selected SNPs linked to cardiovascular traits and outcomes, is associated with arterial stiffness in patients with hypertension...
June 6, 2018: Journal of Hypertension
https://www.readbyqxmd.com/read/29872243/epidemiology-pathophysiology-and-natural-history-of-pulmonary-embolism
#5
REVIEW
Meredith Turetz, Andrew T Sideris, Oren A Friedman, Nidhi Triphathi, James M Horowitz
Pulmonary embolism (PE) is a common and potentially deadly form of venous thromboembolic disease. It is the third most common cause of cardiovascular death and is associated with multiple inherited and acquired risk factors as well as advanced age. The prognosis from PE depends on the degree of obstruction and hemodynamic effects of PE and understanding the pathophysiology helps in risk-stratifying patients and determining treatment. Though the natural history of thrombus is resolution, a subset of patients have chronic residual thrombus, contributing to the post-PE syndrome...
June 2018: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/29860642/recent-progress-in-genome-editing-approaches-for-inherited-cardiovascular-diseases
#6
REVIEW
Balpreet Kaur, Isaac Perea-Gil, Ioannis Karakikes
PURPOSE OF REVIEW: This review describes the recent progress in nuclease-based therapeutic applications for inherited heart diseases in vitro, highlights the development of the most recent genome editing technologies and discusses the associated challenges for clinical translation. RECENT FINDINGS: Inherited cardiovascular disorders are passed from generation to generation. Over the past decade, considerable progress has been made in understanding the genetic basis of inherited heart diseases...
June 2, 2018: Current Cardiology Reports
https://www.readbyqxmd.com/read/29849626/magnesium-and-human-health-perspectives-and-research-directions
#7
REVIEW
Abdullah M Al Alawi, Sandawana William Majoni, Henrik Falhammar
Magnesium is the fourth most abundant cation in the body. It has several functions in the human body including its role as a cofactor for more than 300 enzymatic reactions. Several studies have shown that hypomagnesemia is a common electrolyte derangement in clinical setting especially in patients admitted to intensive care unit where it has been found to be associated with increase mortality and hospital stay. Hypomagnesemia can be caused by a wide range of inherited and acquired diseases. It can also be a side effect of several medications...
2018: International Journal of Endocrinology
https://www.readbyqxmd.com/read/29801689/mendelian-randomization-its-impact-on-cardiovascular-disease
#8
REVIEW
Masa-Aki Kawashiri, Hayato Tada, Akihiro Nomura, Masakazu Yamagishi
Cardiovascular diseases and their risk factors are inheritable. Single nucleotide polymorphisms in the human genome are found in around 1 in 1000 base pairs, and this may affect the genetic variety of individuals. During meiosis, any genetic information is randomized and is independent of other characteristics. In a Mendelian randomization study (MRS), a genetic variant associated with biomarker is used as a proxy for the biomarker, and the outcomes are compared between the groups harboring the effect alleles and a group with the reference allele...
May 22, 2018: Journal of Cardiology
https://www.readbyqxmd.com/read/29796325/patient-with-marfan-syndrome-and-a-novel-variant-in-fbn1-presenting-with-bilateral-popliteal-artery-aneurysm
#9
Ahmed Mohammad, Haytham Helmi, Paldeep S Atwal
We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. After repairing of his left popliteal artery aneurysm, he was sent for genetic evaluation. He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent FBN1 sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene FBN1 , denoted by c...
2018: Case Reports in Genetics
https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#10
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29765988/genetic-variability-of-the-glucose-dependent-insulinotropic-peptide-gene-is-involved-in-the-premature-coronary-artery-disease-in-a-chinese-population-with-type-2-diabetes
#11
Xiaowei Ma, Jia Huang, Difei Lu, Nan Gu, Ran Lu, Jianwei Zhang, Hong Zhang, Jianping Li, Junqing Zhang, Xiaohui Guo
Background: Glucose-dependent insulinotropic polypeptide (GIP) is closely related to diabetes and obesity, both of which are confirmed to increase the risk of coronary artery disease (CAD). Our study aimed to investigate whether the polymorphisms in GIP genes could affect the risk of cardiovascular disease in type 2 diabetic patients in the Chinese Han population. Methods: We selected and genotyped two haplotype-tagging single nucleotide polymorphisms (tag-SNPs) (rs2291725 C>T, rs8078510 G>A) of GIP gene based on CHB data in HapMap Phase II database ( r 2 < 0...
2018: Journal of Diabetes Research
https://www.readbyqxmd.com/read/29759488/neuromuscular-disorders-and-the-role-of-the-clinical-electrophysiologist
#12
REVIEW
Haisam Ismail, Elizabeth Raynor, Peter Zimetbaum
Cardiac involvement is common and may be the presenting or predominant manifestation in a variety of neuromuscular disorders, most notably the inherited muscle disorders, or muscular dystrophies. Cardiac manifestations of the neuromuscular disorders result from pathological involvement of the myocardium and the cardiac conduction system, with resulting cardiomyopathy or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death. Many of these neuromuscular disorders are rare and may be unrecognized by even experienced specialists in internal and cardiovascular medicine...
October 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29755837/chagasic-cardiomyopathy-and-pompe-disease-case-report
#13
Rafael Ob de Morais, Ândrea V Chaves-Markman, Anna Pp Miranda, Ingrid G Amorim, Maria da Ga de M Cavalcanti, Manuel Markman, Brivaldo Markman-Filho
BACKGROUND: Pompe disease is a lysosomal storage disease with an autosomal recessive inheritance characterized by an insufficient activity of the acid alpha-glucosidase enzyme. The incidence varies from 1:40000 to 1:200000 live births and cardiac involvement in adults is rare. Chagas disease is an infection caused by the protozoan Trypanosoma cruzi, in which one-third of the cases progress to the chronic form, and may lead to cardiac involvement, usually from the fifth decade of life onwards...
2018: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/29755794/time-of-anderson-fabry-disease-detection-and-cardiovascular-presentation
#14
K Selthofer-Relatic
Background: Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult...
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/29746887/cardiac-ca-2-signalling-in-zebrafish-translation-of-findings-to-man
#15
REVIEW
Chantal J M van Opbergen, Stephanie M van der Voorn, Marc A Vos, Teun P de Boer, Toon A B van Veen
Sudden cardiac death is a leading cause of death worldwide, mainly caused by highly disturbed electrical activation patterns in the heart. Currently, murine models are the most popular model to study underlying molecular mechanisms of inherited or acquired cardiac electrical abnormalities, although the numerous electrophysiological discrepancies between mouse and human raise the question whether mice are the optimal model to study cardiac rhythm disorders. Recently it has been uncovered that the zebrafish cardiac electrophysiology seems surprisingly similar to the human heart, mainly because the zebrafish AP contains a clear plateau phase and ECG characteristics show alignment with the human ECG...
May 7, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29746303/acquired-low-cholesterol-diagnosis-and-relevance-to-safety-of-low-ldl-therapeutic-targets
#16
Handrean Soran, Jan Hoong Ho, Paul N Durrington
PURPOSE OF REVIEW: Acquired hypocholesterolaemia occurs more commonly than inherited hypocholesterolaemia but has received little attention in the literature. In this review, we discuss the causes and underlying mechanisms of acquired hypocholesterolaemia and its relevance to safety of therapeutically induced decreased LDL cholesterol levels. RECENT FINDINGS: Hypocholesterolaemia is increasingly identified as cholesterol testing becomes more widespread in the assessment of cardiovascular risk...
May 8, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29744527/inherited-primary-arrhythmia-disorders-cardiac-channelopathies-and-sports-activity
#17
REVIEW
S Marrakchi, I Kammoun, E Bennour, L Laroussi, M Ben Miled, S Kachboura
Sudden cardiac death (SCD) in an apparently healthy individual is a tragedy. It is important to identify the cause of death and to prevent SCD in potentially at-risk family members. Inherited primary arrhythmia disorders are associated with exercise-related SCD. Despite the well-known benefits of exercise, exercise restriction has been a historical mainstay of therapy for these conditions. However, since familiarity with inherited arrhythmia conditions has increased and patients are often children and young adults, it is necessary to reassess the treatment guidelines regarding exercise constraints...
May 9, 2018: Herz
https://www.readbyqxmd.com/read/29744013/pregnancy-in-women-with-cardiovascular-diseases
#18
REVIEW
Karolina Adam
Patients with cardiovascular disease represent a significant cohort at risk for complications during pregnancy. The normal physiologic changes of pregnancy could further compromise the hemodynamics of various cardiovascular conditions, resulting in clinical deterioration and even death. The fetus of a gravida with cardiovascular disease also has an increased risk of morbidity, including an increased risk of inherited cardiac genetic disorders, fetal growth restriction, and premature delivery. These complications also increase the risk for antenatal and perinatal mortality...
October 2017: Methodist DeBakey Cardiovascular Journal
https://www.readbyqxmd.com/read/29728017/-ginseng-prescription-rules-and-molecular-mechanism-in-treating-coronary-heart-disease-based-on-data-mining-and-integrative-pharmacology
#19
Sen Li, Shi-Huan Tang, Jin-Ling Liu, Jin Su, Fu-Yuan He
The ancient dragon Materia Medica, Compendium of Materia Medica and other works recorded that the main effect of ginseng is tonifying qi. It is reported that the main active ingredient of ginseng is ginsenoside. Modern studies have found that ginseng mono saponins are effective for cardiovascular related diseases. This paper preliminary clarified the efficacy of traditional ginseng-nourishing qi and cardiovascular disease through the traditional Chinese medicine (TCM) inheritance auxiliary platform and integration platform of association of pharmacology...
April 2018: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29720182/spectrum-of-low-density-lipoprotein-receptor-ldlr-mutations-in-a-cohort-of-sri-lankan-patients-with-familial-hypercholesterolemia-a-preliminary-report
#20
C S Paththinige, J R D K Rajapakse, G R Constantine, K P Sem, R R Singaraja, R W Jayasekara, V H W Dissanayake
BACKGROUND: Hypercholesterolemia is a major determinant of cardiovascular disease-associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are implicated in the majority of the cases with familial hypercholesterolemia (FH). However, the spectrum of mutations in the LDLR gene in Sri Lankan patients has not been investigated. The objective of this study was to report the frequency and spectrum of variants in LDLR in a cohort of Sri Lankan patients with FH. METHODS: A series of consecutive patients with FH, diagnosed according to Modified Simon Broome criteria or Dutch Lipid Clinic Network criteria at the University Medical Unit, Colombo, were recruited...
May 2, 2018: Lipids in Health and Disease
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