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https://www.readbyqxmd.com/read/29219151/familial-hypercholesterolaemia
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/29138210/what-happens-after-menopause-wham-protocol-for-a-prospective-multicentre-age-matched-cohort-trial-of-risk-reducing-bilateral-salpingo-oophorectomy-in-high-risk-premenopausal-women
#6
Martha Hickey, Alison Trainer, Sabine Braat, Mary-Ann Davey, Efrosinia Krejany, John Wark
INTRODUCTION: Women at high inherited risk of ovarian cancer are advised to undergo risk-reducing bilateral salpingo-oophorectomy (RRBSO) at age 40-45 years or when their families are complete. Most women are premenopausal at this age, so RRBSO will induce surgical menopause. Despite the clear benefits of RRBSO for cancer risk reduction, much less is known about the impact on non-cancer outcomes that contribute to health and well-being and inform surveillance and management strategies...
November 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/29110756/apol1-nephropathy-a-population-genetics-and-evolutionary-medicine-detective-story
#7
REVIEW
Etty Kruzel-Davila, Walter G Wasser, Karl Skorecki
Common DNA sequence variants rarely have a high-risk association with a common disease. When such associations do occur, evolutionary forces must be sought, such as in the association of apolipoprotein L1 (APOL1) gene risk variants with nondiabetic kidney diseases in populations of African ancestry. The variants originated in West Africa and provided pathogenic resistance in the heterozygous state that led to high allele frequencies owing to an adaptive evolutionary selective sweep. However, the homozygous state is disadvantageous and is associated with a markedly increased risk of a spectrum of kidney diseases encompassing hypertension-attributed kidney disease, focal segmental glomerulosclerosis, human immunodeficiency virus nephropathy, sickle cell nephropathy, and progressive lupus nephritis...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29110304/beta-blockers-for-preventing-aortic-dissection-in-marfan-syndrome
#8
REVIEW
Hyun-Kyoung Koo, Kendra Ak Lawrence, Vijaya M Musini
BACKGROUND: Marfan syndrome is a hereditary disorder affecting the connective tissue and is caused by a mutation of the fibrillin-1 (FBN1) gene. It affects multiple systems of the body, most notably the cardiovascular, ocular, skeletal, dural and pulmonary systems. Aortic root dilatation is the most frequent cardiovascular manifestation and its complications, including aortic regurgitation, dissection and rupture are the main cause of morbidity and mortality. OBJECTIVES: To assess the long-term efficacy and safety of beta-blocker therapy as compared to placebo, no treatment or surveillance only in people with Marfan syndrome...
November 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29106543/survival-in-homozygous-familial-hypercholesterolaemia-is-determined-by-the-on-treatment-level-of-serum-cholesterol
#9
Gilbert R Thompson, Dirk J Blom, A David Marais, Mary Seed, Gillian J Pilcher, Frederick J Raal
Aims: Homozygous familial hypercholesterolaemia (FH) is a rare inherited disorder characterized by extreme hypercholesterolaemia from birth, accelerated atherosclerosis, and premature death. Many forms of lipid-lowering therapies have been used in the past, but definitive evidence of benefit has been lacking. We therefore undertook a retrospective survey of lipid levels and clinical outcomes of FH homozygotes treated with a combination of lipid-lowering measures between 1990 and 2014 in South Africa and the UK...
July 1, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29102389/coronary-artery-stenosis-treatment-in-aging-patients-with-inherited-factor-vii-deficiency-where-do-we-stand
#10
Mariasanta Napolitano, Sergio Siragusa
Aging with rare bleeding disorders such as factor VII (FVII) deficiency poses several challenges to treatment because of the occurrence of cerebral and cardiovascular age-related comorbidities and high bleeding risks. We report a case of long-term treatment with antiplatelet agents and contemporary prophylaxis of bleeding in a woman affected by severe FVII deficiency diagnosed with symptomatic coronary artery stenosis. Information on the management of antithrombotic treatment in rare bleeding disorders is lacking and mainly limited to anecdotal reports or side effects secondary to replacement therapy...
November 1, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29096864/care-high-cascade-screening-and-registry-for-high-cholesterol-in-germany
#11
Nina Schmidt, Tanja Grammer, Ioanna Gouni-Berthold, Ulrich Julius, Ursula Kassner, Gerald Klose, Christel König, Ulrich Laufs, Britta Otte, Elisabeth Steinhagen-Thiessen, Christoph Wanner, Winfried März
INTRODUCTION: Familial hypercholesterolemia (FH) is an inherited disorder of the LDL metabolism, leading to cardiovascular disease, even at young age. This risk can be significantly lowered by early diagnosis and treatment. About 270,000 patients affected in Germany are not diagnosed correctly and only a small number is treated properly. To improve FH diagnosis in the general population a cascade screening and registry data is warranted, yet missing in Germany. This project aims to fill this gap...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29089047/whole-exome-sequencing-in-342-congenital-cardiac-left-sided-lesion-cases-reveals-extensive-genetic-heterogeneity-and-complex-inheritance-patterns
#12
Alexander H Li, Neil A Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C A D'Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R Parekh, Wayne J Franklin, Mark Lewin, Jeffrey A Towbin, Daniel J Penny, Charles D Fraser, James F Martin, Christine Eng, James R Lupski, Richard A Gibbs, Eric Boerwinkle, John W Belmont
BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. METHODS: Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF), and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases...
October 31, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29074516/an-enquiry-based-on-a-standardised-questionnaire-into-knowledge-awareness-and-preferences-concerning-the-care-of-familial-hypercholesterolaemia-among-primary-care-physicians-in-the-asia-pacific-region-the-ten-countries-study
#13
Jing Pang, Miao Hu, Jie Lin, Takashi Miida, Hapizah M Nawawi, Jeong Euy Park, Xue Wu, Anis S Ramli, Ngoc Thanh Kim, See Kwok, Lourdes E Gonzalez-Santos, Ta-Chen Su, Thanh Huong Truong, Handrean Soran, Shizuya Yamashita, Brian Tomlinson, Gerald F Watts
OBJECTIVE: To determine physicians' knowledge, awareness and preferences regarding the care of familial hypercholesterolaemia (FH) in the Asia-Pacific region. SETTING: A formal questionnaire was anonymously completed by physicians from different countries/regions in the Asia-Pacific. The survey sought responses relating to general familiarity, awareness of management guidelines, identification (clinical characteristics and lipid profile), prevalence and inheritance, extent of elevation in risk of cardiovascular disease (CVD) and practice on screening and treatment...
October 25, 2017: BMJ Open
https://www.readbyqxmd.com/read/29072176/premature-coronary-artery-disease-due-to-homozygous-familial-hypercholesterolemia-in-a-12-year-old-girl
#14
Filiz Ekici, Salih Özçobanoğlu, Fırat Kardelen
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disease, caused by low-density lipoprotein receptor abnormality. Patients with HoFH have an increased risk for cardiovascular complication (CVC) that usually occurs in the first decade of life. We report a twelve years-old girl with unpredicted presentation for coronary artery disease (CAD) and she was found to have HoFH. CASE REPORT: A 12 years old girl was admitted to our unit with syncope...
October 26, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29069341/epigenetics-and-precision-medicine-in-cardiovascular-patients-from-basic-concepts-to-the-clinical-arena
#15
Sarah Costantino, Peter Libby, Raj Kishore, Jean-Claude Tardif, Assam El-Osta, Francesco Paneni
Cardiovascular diseases (CVDs) remain the leading cause of mortality worldwide and also inflict major burdens on morbidity, quality of life, and societal costs. Considering that CVD preventive medications improve vascular outcomes in less than half of patients (often relative risk reductions range from 12% to 20% compared with placebo), precision medicine offers an attractive approach to refine the targeting of CVD medications to responsive individuals in a population and thus allocate resources more wisely and effectively...
October 23, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29068853/neonatal-rhizomelic-chondrodysplasia-punctata-type-1-weaving-evidence-into-clinical-practice
#16
Jessica Landino, Amy J Jnah, Desi M Newberry, Sabine C Iben
Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases. Differentiating between the 3 subtypes of RCDP, as well as disorders characterized by similar punctate cartilaginous changes, is essential to guide an appropriate postnatal plan of care. Management strategies are focused toward associated clinical manifestations and require an interdisciplinary approach including ophthalmology, cardiovascular, endocrine, physical and occupational therapy, and neurology...
October 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/29064542/elevated-leukocyte-count-as-a-harbinger-of-systemic-inflammation-disease-progression-and-poor-prognosis-a-review
#17
Piotr Paweł Chmielewski, Bartłomiej Strzelec
Total leukocyte count increases significantly in response to infection, trauma, inflammation, and certain diseases. Factors affecting leukocyte count in healthy adults include sex, hormonal milieu, genetic inheritance, stress level, diet, nutrition, and lifestyle (e.g. tobacco-induced inflammatory changes, chronic psychological stress, etc.). To date, numerous studies have reported that high but normal leukocyte counts at baseline predict increased cardiovascular and noncardiovascular mortality in older adults...
October 24, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29029707/epidemiology-pathophysiology-stratification-and-natural-history-of-pulmonary-embolism
#18
REVIEW
Nicholas J Giordano, Paul S Jansson, Michael N Young, Kaitlin A Hagan, Christopher Kabrhel
Pulmonary embolism (PE) is a common and potentially fatal form of venous thromboembolism that can be challenging to diagnose and manage. PE occurs when there is obstruction of the pulmonary vasculature and is a common cause of morbidity and mortality in the United States. A combination of acquired and inherited factors may contribute to the development of this disease and should be considered, since they have implications for both susceptibility to PE and treatment. Patients with suspected PE should be evaluated efficiently to diagnose and administer therapy as soon as possible, but the presentation of PE is variable and nonspecific so diagnosis is challenging...
September 2017: Techniques in Vascular and Interventional Radiology
https://www.readbyqxmd.com/read/29029165/depicting-new-pharmacological-strategies-for-familial-hypercholesterolaemia-involving-lipoprotein-a
#19
Alpo Vuorio, Gerald F Watts, Petri T Kovanen
Approximately 35 million people worldwide suffer from heterozygous familial hypercholesterolaemia (HeFH), a condition characterized by genetically determined life-long elevation of plasma low-density lipoprotein cholesterol (LDL-C). One in three of these patients also inherit an elevated plasma concentration of lipoprotein (a) [Lp(a)], a lipoprotein particle with atherogenic, inflammatory and prothrombotic properties. Accordingly, the combination of high plasma LDL-C and Lp(a) can markedly accelerate premature atherosclerotic cardiovascular disease (ASCVD)...
October 3, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29027470/next-generation-sequencing-applications-for-cardiovascular-disease
#20
Samira Kalayinia, Hamidreza Goodarzynejad, Majid Maleki, Nejat Mahdieh
The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger's method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular diseases (CVDs)...
October 13, 2017: Annals of Medicine
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