keyword
MENU ▼
Read by QxMD icon Read
search

Inherited cardiovascular

keyword
https://www.readbyqxmd.com/read/28636007/analysis-of-association-of-gene-variants-with-obesity-traits-in-new-zealand-european-children-at-6-years-of-age
#1
Mohanraj Krishnan, John M D Thompson, Edwin A Mitchell, Rinki Murphy, Lesley M E McCowan, Andrew N Shelling, G On Behalf Of The Children Of Scope Study Group
Childhood obesity is a public health problem, which is associated with a long-term increased risk of cardiovascular disease and premature mortality. Several gene variants have previously been identified that have provided novel insights into biological factors that contribute to the development of obesity. As obesity tracks through childhood into adulthood, identification of the genetic factors for obesity in early life is important. The objective of this study was to identify putative associations between genetic variants and obesity traits in children at 6 years of age...
June 21, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#2
William E Moody, Luke Pickup, Emma Plunkett, John Fryearson, Paul F Clift, R Katie Morris, Peter J Thompson, Sara Thorne, Lucy E Hudsmith
BACKGROUND: Pregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. METHODS: Fifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1...
June 2, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28611029/whole-exome-sequencing-identifies-truncating-variants-in-nuclear-envelope-genes-in-patients-with-cardiovascular-disease
#3
Gloria T Haskell, Brian C Jensen, Leigh Ann Samsa, Daniel Marchuk, Wei Huang, Cecile Skrzynia, Christian Tilley, Bryce A Seifert, Edgar A Rivera-Muñoz, Beverly Koller, Kirk C Wilhelmsen, Jiandong Liu, Hassan Alhosaini, Karen E Weck, James P Evans, Jonathan S Berg
BACKGROUND: The genetic variation underlying many heritable forms of cardiovascular disease is incompletely understood, even in patients with strong family history or early age at onset. METHODS AND RESULTS: We used whole exome sequencing to detect pathogenic variants in 55 patients with suspected monogenic forms of cardiovascular disease. Diagnostic analysis of established disease genes identified pathogenic variants in 21.8% of cases and variants of uncertain significance in 34...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28598687/lomitapide-for-the-treatment-of-hypercholesterolemia
#4
Amanda J Berberich, Robert A Hegele
Homozygous familial hypercholesterolemia (HoFH) is a serious rare inherited condition that leads to extremely elevated levels of low density lipoprotein cholesterol (LDL-C), and predisposes affected individuals to high risk of atherosclerotic vascular disease. Traditional therapies are largely ineffective in managing the hypercholesterolemia in these patients; diet and regular LDL-apheresis are the mainstays of management. Lomitapide is an inhibitor of microsomal triglyceride transfer protein (MTP) that blocks the assembly of metabolic precursors of LDL particles...
June 9, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28584496/marfan-syndrome
#5
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common...
January 2017: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/28577571/genetic-determinants-of-inherited-susceptibility-to-hypercholesterolemia-a-comprehensive-literature-review
#6
REVIEW
C S Paththinige, N D Sirisena, Vhw Dissanayake
Hypercholesterolemia is a strong determinant of mortality and morbidity associated with cardiovascular diseases and a major contributor to the global disease burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia. However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any of these four genes. This indicates the probability of having other genes with a causative or contributory role in the pathogenesis of hypercholesterolemia and suggests a polygenic inheritance of this condition...
June 2, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28560179/the-factors-affecting-lipid-profile-in-adult-patients-with-mucopolysaccharidosis
#7
Karolina M Stepien, Fiona J Stewart, Chris J Hendriksz
BACKGROUND: Mucopolysaccharidoses (MPS) are a group of rare inherited disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) within the myocytes and coronary arteries. Little is known about hyperlipidaemia as a potential cardiovascular risk factor in these patients. Baseline cholesterol data in adults are scarce. Therefore, the aim of this study was to analyse factors affecting lipid profile in different types of MPSs to determine if abnormalities in lipid profile contribute to the overall risk of cardiovascular disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28556366/a-role-for-primary-cilia-in-aortic-valve-development-and-disease
#8
Katelynn A Toomer, Diana Fulmer, Lilong Guo, Alex Drohan, Neal Peterson, Paige Swanson, Brittany Brooks, Rupak Mukherjee, Simon Body, Josh Lipschutz, Andy Wessels, Russell A Norris
BACKGROUND: Bicuspid aortic valve (BAV) disease is the most common congenital heart defect affecting 0.5-1.2% of the population and causes significant morbidity and mortality. Only a few genes have been identified in pedigrees and no single gene-model explains BAV inheritance, thus supporting a complex genetic network of interacting genes. However, patients with rare syndromic diseases that stem from alterations in the structure and function of primary cilia ("ciliopathies") exhibit BAV as a frequent cardiovascular finding, suggesting primary cilia may factor broadly in disease etiology...
May 27, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28546535/a-novel-prkag2-mutation-in-a-chinese-family-with-cardiac-hypertrophy-and-ventricular-pre-excitation
#9
Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28535941/-anesthetic-management-of-two-patients-with-alkaptonuric-ochronosis-for-total-knee-arthroplasty
#10
Betul Kozanhan
The current case report describes two cases of alkaptonuric ochronosis for anesthetic management. Alkaptonuria is a rare genetic orphan disease of tyrosine metabolism characterized by an accumulation of homogentisic acid in cartilage and connective tissues. Patients present most commonly for orthopedic joint surgery due to progressive arthropathy that can be misdiagnosed many a times. However respiratory, airway, cardiovascular and genitourinary systems complications can occur with age progressing. Restricted range of motion of cervical spine may lead to difficulty with airway management...
May 20, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28534160/micrornas-new-therapeutic-targets-for-familial-hypercholesterolemia
#11
REVIEW
Amir Abbas Momtazi, Maciej Banach, Matteo Pirro, Evan A Stein, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is the most common inherited form of dyslipidemia and a major cause of premature cardiovascular disease. Management of FH mainly relies on the efficiency of treatments that reduce plasma low-density lipoprotein (LDL) cholesterol (LDL-C) concentrations. MicroRNAs (miRs) have been suggested as emerging regulators of plasma LDL-C concentrations. Notably, there is evidence showing that miRs can regulate the post-transcriptional expression of genes involved in the pathogenesis of FH, including LDLR, APOB, PCSK9, and LDLRAP1...
May 22, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28533687/pulmonary-hypertension-and-vasculopathy-in-incontinentia-pigmenti-a-case-report
#12
Abduljabbar Alshenqiti, Marwan Nashabat, Hissah AlGhoraibi, Omar Tamimi, Majid Alfadhel
Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is a rare, genetic syndrome inherited as an X-linked dominant trait. It primarily affects female infants and is lethal in the majority of males during fetal life. The clinical findings include skin lesions, developmental defects, and defects of the eyes, teeth, skeletal system, and central nervous system. Cardiovascular complications of this disease in general, and pulmonary hypertension in particular, are extremely rare. This report describes the case of a 3-year-old girl with IP complicated by pulmonary arterial hypertension...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28502508/plasma-lipoprotein-a-levels-in-patients-with-homozygous-autosomal-dominant-hypercholesterolemia
#13
Barbara Sjouke, Reyhana Yahya, Michael W T Tanck, Joep C Defesche, Jacqueline de Graaf, Albert Wiegman, John J P Kastelein, Monique T Mulder, G Kees Hovingh, Jeanine E Roeters van Lennep
BACKGROUND: Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and in some studies also high lipoprotein(a) (Lp(a)) levels were observed. The question remains whether this effect on Lp(a) levels is gene-dose-dependent in individuals with either 0, 1, or 2 LDLR or APOB mutations...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28495795/the-desmoplakin-intermediate-filament-linkage-regulates-cell-mechanics
#14
Joshua A Broussard, Ruiguo Yang, Changjin Huang, S Shiva P Nathamgari, Allison M Beese, Lisa M Godsel, Sherry Lee, Fan Zhou, Nathan J Sniadecki, Kathleen J Green, Horacio D Espinosa
The translation of mechanical forces into biochemical signals plays a central role in guiding normal physiological processes during tissue development and homeostasis. Interfering with this process contributes to cardiovascular disease, cancer progression, and inherited disorders. The actin-based cytoskeleton and its associated adherens junctions are well-established contributors to mechanosensing and transduction machinery; however, the role of the desmosome/intermediate filament network is poorly understood in this context...
May 11, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28488237/perioperative-bleeding-and-thrombotic-risks-in-patients-with-von-willebrand-disease
#15
Nathaniel R Smilowitz, Navdeep Gupta, Yu Guo, Sripal Bangalore, Jeffrey S Berger
Von Willebrand disease (VWD) is an inherited bleeding disorder that often manifests clinically with hemorrhage after invasive procedures. We investigated the association between a diagnosis of VWD and bleeding and thrombotic outcomes following major non-cardiac surgery in a large national database from the United States. Patients age ≥45 years requiring major non-cardiac surgery were identified from Healthcare Cost and Utilization Project's National Inpatient Sample data. Von Willebrand disease, perioperative major adverse cardiovascular events (MACE), thrombotic events, and hemorrhage were defined by ICD9 diagnosis codes...
May 9, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28486967/pseudoxanthoma-elasticum
#16
REVIEW
Dominique P Germain
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas...
May 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28476777/disease-stage-dependent-changes-in-cardiac-contractile-performance-and-oxygen-utilization-underlie-reduced-myocardial-efficiency-in-human-inherited-hypertrophic-cardiomyopathy
#17
Ahmet Güçlü, Paul Knaapen, Hendrik J Harms, Rahana Y Parbhudayal, Michelle Michels, Adriaan A Lammertsma, Albert C van Rossum, Tjeerd Germans, Jolanda van der Velden
BACKGROUND: Reduced myocardial efficiency represents a target for therapy in hypertrophic cardiomyopathy although therapeutic benefit may depend on disease stage. Here, we determined disease stage-dependent changes in myocardial efficiency and effects of myectomy surgery. METHODS AND RESULTS: Myocardial external efficiency (MEE) was determined in 27 asymptomatic mutation carriers (genotype positive/phenotype negative), 10 patients with hypertrophic obstructive cardiomyopathy (HOCM), 10 patients with aortic valve stenosis, and 14 healthy individuals using [(11)C]-acetate positron emission tomography and cardiovascular magnetic resonance imaging...
May 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28448277/long-term-consequences-of-obesity-on-female-fertility-and-the-health-of-the-offspring
#18
Suchitra Chandrasekaran, Genevieve Neal-Perry
PURPOSE OF REVIEW: Obesity has reached near epidemic levels among reproductive age women with a myriad of consequences. Obesity adversely affects the maternal milieu by creating conditions that decrease fertility and increase the risk of gestational diabetes, hypertensive disease in pregnancy, fetal growth abnormalities and congenital anomalies. The effects of obesity are not limited to pregnancy. Indeed, beyond the immediate postpartum period, obese women maintain a higher prevalence of insulin resistance and cardiovascular disease...
June 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28441951/minimal-clinically-important-difference-for-the-6-min-walk-test-literature-review-and-application-to-morquio-a-syndrome
#19
REVIEW
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya
Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality. Studies in Morquio A patients have used the 6-min walk test (6MWT) to assess functionality and endurance and to evaluate disease progression or efficacy of treatment. The objective of the present study was to review minimal clinically important differences (MCIDs) for the 6MWT reported for disease states that widely use the 6MWT to evaluate clinical benefit and to discuss the results in view of the challenges in estimating MCID for ultra-rare diseases, using the case of elosulfase alfa in Morquio A patients...
April 26, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28439028/bgp-15-prevents-the-death-of-neurons-in-a-mouse-model-of-familial-dysautonomia
#20
Sarah B Ohlen, Magdalena L Russell, Michael J Brownstein, Frances Lefcort
Hereditary sensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance in Man (OMIM) 223900], affects the development and long-term viability of neurons in the peripheral nervous system (PNS) and retina. FD is caused by a point mutation in the gene IKBKAP/ELP1 that results in a tissue-specific reduction of the IKAP/ELP1 protein, a subunit of the Elongator complex. Hallmarks of the disease include vasomotor and cardiovascular instability and diminished pain and temperature sensation caused by reductions in sensory and autonomic neurons...
May 9, 2017: Proceedings of the National Academy of Sciences of the United States of America
keyword
keyword
43794
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"