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https://www.readbyqxmd.com/read/29456246/mitochondrial-dysfunction-in-diabetic-kidney-disease
#1
REVIEW
Josephine M Forbes, David R Thorburn
Globally, diabetes is the leading cause of chronic kidney disease and end-stage renal disease, which are major risk factors for cardiovascular disease and death. Despite this burden, the factors that precipitate the development and progression of diabetic kidney disease (DKD) remain to be fully elucidated. Mitochondrial dysfunction is associated with kidney disease in nondiabetic contexts, and increasing evidence suggests that dysfunctional renal mitochondria are pathological mediators of DKD. These complex organelles have a broad range of functions, including the generation of ATP...
February 19, 2018: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/29443761/haemolytic-uremic-syndrome-due-to-infection-with-adenovirus-a-case-report-and-literature-review
#2
Victoria Birlutiu, Rares Mircea Birlutiu
RATIONALE: Haemolytic-uremic syndrome is a rare but serious complication of bacterial and viral infections, which is characterized by the triad of: acute renal failure, microangiopathic haemolytic anemia and thrombocytopenia, sometimes severe, requiring peritoneal dialysis. In Europe, hemolytic-uremic syndrome (HUS) in paediatric pathology is primarily caused by Shiga toxin-producing Escherichia coli (STEC) O157, followed by O26. Beside these etiologies, there are other bacterial and viral infections, and also noninfectious ones that have been associated to lead to HUS as well: in the progression of neoplasia, medication-related, post-transplantation, during pregnancy or associated with the antiphospholipid syndrome, systemic lupus erythematosus or family causes with autosomal dominant or recessive inheritance...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29438454/comparative-efficacy-of-antihypertensive-agents-in-salt-sensitive-hypertensive-patients-a-network-meta-analysis
#3
Han Qi, Zheng Liu, Han Cao, Wei-Ping Sun, Wen-Juan Peng, Bin Liu, Sheng-Jie Dong, Yu-Tao Xiang, Ling Zhang
Background: Salt-sensitive hypertension (SSH) is an intermediate inherited phenotype of essential hypertension as well as being an independent risk factor for cardiovascular disease. However, effective medications for the treatment of SSH have not been clarified. This study was to compare the efficacious of different classes of antihypertensive agents combined with salt intake on the reduction of blood pressure in patients with salt-sensitive hypertension (SSH). Methods: We used sources as PubMed, EMBASE, Cochrane Library, CENTRAL, ClinicalTrials...
February 9, 2018: American Journal of Hypertension
https://www.readbyqxmd.com/read/29437019/what-genetic-tell-us-about-cardiovascular-disease-in-diabetic-patients
#4
Habib Haybar, Mohammad Taha Jalali, Zeinab Deris Zayeri
BACKGROUNDS: Long term of diabetes cause other disease development such as cardiovascular disease (CVD). OBJECTIVE: Genetic can help us to predict cardiovascular disease in diabetic patients. Method and search strategy: we searched pubmed and googlescholar by the terms: Cardiovascular disease; Diabetes ; Polymorphism; Genetic from 2000 to 2017 then we included the relevant studies in our study. DISCUSSION: Essential role of inheritance in multifactorial disease is obviously clear, however, varies by disease and by other factors such as age of disease onset and subtype of disease...
February 11, 2018: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/29432258/overview-of-aldosterone-related-genetic-syndromes-and-recent-advances
#5
Maria-Christina Zennaro, Fabio L Fernandes-Rosa, Sheerazed Boulkroun
PURPOSE OF REVIEW: Primary aldosteronism is the most common form of secondary hypertension. Early diagnosis and treatment are key to cure of hypertension and prevention of cardiovascular complications. Recent genetic discoveries have improved our understanding on the pathophysiology of aldosterone production and triggered the development of new diagnostic procedures and targeted treatments for primary aldosteronism. RECENT FINDINGS: Different inherited genetic abnormalities distinguish specific forms of familial hyperaldosteronism...
February 8, 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29423771/inherited-cardiomyopathies-and-sports-participation
#6
REVIEW
A Zorzi, A Pelliccia, D Corrado
Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines...
February 8, 2018: Netherlands Heart Journal
https://www.readbyqxmd.com/read/29370821/phenodis-a-comprehensive-database-for-phenotypic-characterization-of-rare-cardiac-diseases
#7
Angela Adler, Pia Kirchmeier, Julian Reinhard, Barbara Brauner, Irmtraud Dunger, Gisela Fobo, Goar Frishman, Corinna Montrone, H-Werner Mewes, Matthias Arnold, Andreas Ruepp
BACKGROUND: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity for the interpretation of inherited diseases. We have therefore developed PhenoDis, a comprehensive, manually annotated database providing symptomatic, genetic and imprinting information about rare cardiac diseases...
January 25, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29364115/heg1-and-ccm1-2-proteins-control-endocardial-mechanosensitivity-during-zebrafish-valvulogenesis
#8
Stefan Donat, Marta Lourenço, Alessio Paolini, Cécile Otten, Marc Renz, Salim Abdelilah-Seyfried
Endothelial cells respond to different levels of fluid shear stress through adaptations of their mechanosensitivity. Currently, we lack a good understanding of how this contributes to sculpting of the cardiovascular system. Cerebral cavernous malformation (CCM) is an inherited vascular disease that occurs when a second somatic mutation causes a loss of CCM1/KRIT1, CCM2, or CCM3 proteins. Here, we demonstrate that zebrafish Krit1 regulates the formation of cardiac valves. Expression of heg1, which encodes a binding partner of Krit1, is positively regulated by blood flow...
January 24, 2018: ELife
https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#9
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 16, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#10
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. METHODS: One thousand four hundred ten patients with NF1 were identified by searching the medical records related to inpatient and outpatient hospital visits of patients with an associated diagnosis for NF1 in 1987-2011...
January 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#11
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29320324/spectrum-of-coronary-artery-aneurysms-from-the-radiologic-pathology-archives
#12
Jean Jeudy, Charles S White, Seth J Kligerman, Jonathan L Killam, Allen P Burke, Jacob W Sechrist, Amar B Shah, Rydhwana Hossain, Aletta Ann Frazier
Advances in medical diagnosis reveal that coronary artery aneurysms (CAAs) may develop in several clinical scenarios and manifest variable symptoms, imaging appearances, and outcomes. Aneurysms are pathologically classified into three groups: atherosclerotic, inflammatory, and noninflammatory. The last category is associated with congenital, inherited, and connective tissue disorders. Overlap exists among the groups, because secondary atherosclerotic change may be present in an aneurysm of any cause. Atherosclerosis is the most common cause of CAAs in adults, and inflammation is considered the underlying mechanism...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29312774/marfan-syndrome-with-pneumothorax-case-report-and-review-of-literatures
#13
Weiming Hao, Yong Fang, Hao Lai, Yaxing Shen, Hao Wang, Miao Lin, Lijie Tan
Marfan syndrome is a multisystem connective tissue disorder of autosomal dominant inheritance, which typically involves manifestations of the cardiovascular, skeletal, and ocular systems. Pulmonary involvement occurs less frequently. We report a case of a 28-year-old woman suffering from hours of sudden onset, progressive shortness of breath and right-sided chest pain. On physical examination, she presented decreased breath sound on the right side of chest, together with severe scoliosis and marfanoid habitus...
December 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29240077/clinically-impactful-differences-in-variant-interpretation-between-clinicians-and-testing-laboratories-a-single-center-experience
#14
Austin Bland, Elizabeth A Harrington, Kyla Dunn, Mitchel Pariani, Julia C K Platt, Megan E Grove, Colleen Caleshu
PurposeTo describe the frequency and nature of differences in variant classifications between clinicians and genetic testing laboratories.MethodsRetrospective review of variants identified through genetic testing ordered in routine clinical care by clinicians in the Stanford Center for Inherited Cardiovascular Disease. We compared classifications made by clinicians, the testing laboratory, and other laboratories in ClinVar.ResultsOf 688 laboratory classifications, 124 (18%) differed from the clinicians' classifications...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29237689/technical-advances-for-the-clinical-genomic-evaluation-of-sudden-cardiac-death-verification-of-next-generation-sequencing-panels-for-hereditary-cardiovascular-conditions-using-formalin-fixed-paraffin-embedded-tissues-and-dried-blood-spots
#15
Linnea M Baudhuin, Charles Leduc, Laura J Train, Rajeswari Avula, Michelle L Kluge, Katrina E Kotzer, Peter T Lin, Michael J Ackerman, Joseph J Maleszewski
BACKGROUND: Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously collected at autopsy, but DNA quality hampers its use with traditional sequencing methods. Targeted next-generation sequencing may offer the ability to circumvent such limitations, but a method has not been previously described. The primary aim of this study was to develop and evaluate the use of FFPET for heritable CV disorders via next-generation sequencing...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29219151/familial-hypercholesterolaemia
#16
REVIEW
Joep C Defesche, Samuel S Gidding, Mariko Harada-Shiba, Robert A Hegele, Raul D Santos, Anthony S Wierzbicki
Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time can lead to cardiovascular disease (CVD). Most cases are caused by autosomal dominant mutations in LDLR, which encodes the LDL receptor, although mutations in other genes coding for proteins involved in cholesterol metabolism or LDLR function and processing, such as APOB and PCSK9, can also be causative, although less frequently...
December 7, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29169751/selecting-the-right-defibrillator-in-the-younger-patient-transvenous-epicardial-or-subcutaneous
#17
Nikolay Bogush, Raul E Espinosa, Bryan C Cannon, Philip L Wackel, Hideo Okamura, Paul A Friedman, Christopher J McLeod
The advent of the subcutaneous implantable cardioverter-defibrillator (SQ-ICD) provides an alternative to transvenous and epicardial ICD therapy. Particularly germane to the young patient with congenital heart disease or inheritable arrhythmia syndromes, the SQ-ICD may be ideal for those who do not require permanent cardiac pacing. The serious complications associated with transvenous ICD systems are largely driven by the intravascular components of these devices and are avoided by this extravascular technique...
January 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29159733/management-of-hemophilia-in-older-patients
#18
REVIEW
Massimo Franchini, Pier Mannuccio Mannucci
In recent decades, several improvements in hemophilia care have resulted in increased quality of life and life expectancy for those affected by this inherited hemorrhagic condition. Nowadays, individuals with hemophilia enjoy a life expectancy at birth close to that of males in the general population. As a consequence of the increasing age of the hemophilia population, a growing number of these patients develop age-related co-morbidities, such as cardiovascular disease and cancer, the management of which represents a new challenge for caregivers at hemophilia treatment centers...
November 20, 2017: Drugs & Aging
https://www.readbyqxmd.com/read/29157585/cardiac-autonomic-control-during-sleep-in-patients-with-myotonic-dystrophy-type-1-the-effects-of-comorbid-obstructive-sleep-apnea
#19
Eleonora Tobaldini, Giorgio Colombo, Monica Solbiati, Chiara Cogliati, Lucia Morandi, Alessandro Pincherle, Nicola Montano
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is a hereditary myopathy characterized by an autosomal dominant inheritance with important cardiovascular and autonomic deregulation. DM1 patients have a high prevalence of obstructive sleep apnea (OSA), but the effects of this comorbidity on cardiovascular autonomic control (CAC) are unknown. The present study aimed to investigate CAC during sleep-wake cycle in DM1 patients, taking into account the effects of OSA comorbidity. METHOD: Twenty-three patients with a diagnosis of DM1, and a control group, underwent a complete polysomnographic study (PSG)...
November 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29150126/hypertrophic-cardiomyopathy
#20
REVIEW
Juan José Santos Mateo, María Sabater Molina, Juan Ramón Gimeno Blanes
Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It is characterized by increased ventricular wall thickness and is highly complex due to its heterogeneous clinical presentation, several phenotypes, large number of associated causal mutations and broad spectrum of complications. It is caused by mutations in sarcomeric proteins, which are identified in up to 60% of cases of the disease. Clinical manifestations of Hypertrophic Cardiomyopathy include shortness of breath, chest pain, palpitations and syncope, which are related to the onset of diastolic dysfunction, left ventricular outflow tract obstruction, ischemia, atrial fibrillation and abnormal vascular responses...
November 14, 2017: Medicina Clínica
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