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Cardiovascular genetic counseling

R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
August 26, 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood samples were collected from 72 DCM probands, mean age of 34 years, 45.8% FDCM. DNA samples were examined by next generation sequencing (NGS) with a focus on the TTN gene...
2017: PloS One
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Zofia Walencka, Aleksander Jamsheer, Piotr Surmiak, Małgorzata Baumert, Aleksandra Jezela-Stanek, Andrzej Witek, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Magdalena Socha, Anna Sowińska-Seidler
OBJECTIVES: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination. MARETIAL AND METHODS: Nine family members were tested for TBX5 gene mutation. RESULTS: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results...
2016: Ginekologia Polska
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
November 2016: Obstetrics and Gynecology
Magnus Jörntén-Karlsson, Stéphane Pintat, Michael Molloy-Bland, Staffan Berg, Matti Ahlqvist
Poor adherence to statins increases cardiovascular disease risk. We systematically identified 32 controlled studies that assessed patient-centered interventions designed to improve statin adherence. The limited number of studies and variation in study characteristics precluded strict quality criteria or meta-analysis. Cognitive education or behavioural counselling delivered face-to-face multiple times consistently improved statin adherence compared with control groups (7/8 and 3/3 studies, respectively). None of four studies using medication reminders and/or adherence feedback alone reported significantly improved statin adherence...
October 2016: Drugs
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
September 19, 2016: Cardiology in the Young
Mary J Roman, Norma L Pugh, Tabitha P Hendershot, Richard B Devereux, Hal Dietz, Kathryn Holmes, Kim A Eagle, Scott A LeMaire, Dianna M Milewicz, Shaine A Morris, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Michael Silberbach
BACKGROUND: The risk of aortic complications associated with pregnancy in women with Marfan syndrome (MFS) is not fully understood. METHODS AND RESULTS: MFS women participating in the large National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) were evaluated. Among 184 women with MFS in whom pregnancy information was available, 94 (51%) had a total of 227 pregnancies. Among the women with pregnancies, 10 (10...
August 11, 2016: Journal of the American Heart Association
Benjamin M Helm, Samantha L Freeze
Congenital heart defects (CHDs) are common birth defects and result in significant morbidity and global economic impact. Genetic factors play a role in most CHDs; however, identification of these factors has been historically slow due to technological limitations and incomplete understanding of the impact of human genomic variation on normal and abnormal cardiovascular development. The advent of chromosome microarray (CMA) brought tremendous gains in identifying chromosome abnormalities in a variety of human disorders and is now considered part of a standard evaluation for individuals with multiple congenital anomalies and/or neurodevelopmental disorders...
2016: Frontiers in Cardiovascular Medicine
Orna Diav-Citrin, Svetlana Shechtman, Judy Arnon, Rebecka Wajnberg, Cornelia Borisch, Evelin Beck, Jonathan Luke Richardson, Pina Bozzo, Irena Nulman, Asher Ornoy
INTRODUCTION: Methylphenidate is a central nervous system stimulant medicinally used in the treatment of attention-deficit disorder with or without hyperactivity (ADD/ADHD). Data on its use in human pregnancy are limited. The primary objective of the study was to evaluate the risk of major congenital anomalies after pregnancy exposure to methylphenidate for medical indications. METHODS: In a prospective, comparative, multicenter observational study performed in 4 participating Teratology Information Services (in Jerusalem, Berlin, Newcastle upon Tyne, and Toronto) between 1996 and 2013, methylphenidate-exposed pregnancies were compared with pregnancies counseled for nonteratogenic exposure (NTE) after matching by maternal age, gestational age, and year at initial contact...
May 24, 2016: Journal of Clinical Psychiatry
Brooke Levenseller Levin, Elizabeth Varga
The 5, 10 methylenetetrahydrofolate reductase (MTHFR) enzyme is a catalyst in the folate metabolism pathway, the byproducts of which are involved in the remethylation of homocysteine to methionine. Methionine is a precursor for a major DNA methyl donor and is important for DNA methylation and gene regulation. Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia...
October 2016: Journal of Genetic Counseling
Mohd Fareed, Mohammad Afzal
PURPOSE: Cardiovascular diseases are the leading cause of mortality and morbidity among humans worldwide. We aimed to estimate the effect of familial inbreeding on cardiovascular risks. METHODS: The study was conducted during April 2014 through June 2014, and a total of 587 adolescent subjects (male = 270, female = 317; 11-18 years of age) were recruited from five Muslim populations viz., Gujjar and Bakarwal (n = 130), Mughal (n = 111), Malik (n = 114), Syed (n = 108), and Khan (n = 124)...
April 2016: Annals of Epidemiology
Steven L Driver, Seth S Martin, Ty J Gluckman, Julie M Clary, Roger S Blumenthal, Neil J Stone
In the 2013 American College of Cardiology (ACC)/American Heart Association Guideline (AHA) on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults, low-density lipoprotein cholesterol treatment thresholds have been replaced with a focus on global risk. In this context, we re-examine the need for fasting lipid measurements in various clinical scenarios including estimating initial risk for atherosclerotic cardiovascular disease in a primary prevention patient; screening for familial lipid disorders in a patient with a strong family history of premature atherosclerotic cardiovascular disease or genetic dyslipidemia; clarifying a diagnosis of metabolic syndrome so it can be used to make lifestyle counseling more effective; assessing residual risk in a treated patient; diagnosing and treating patients with suspected hypertriglyceridemic pancreatitis; or diagnosing hypertriglyceridemia in patients who require therapy for other conditions that may further elevate triglycerides...
March 15, 2016: Journal of the American College of Cardiology
Hiroaki Tanaka, Shinji Katsuragi, Kazuhiro Osato, Junichi Hasegawa, Masahiko Nakata, Takeshi Murakoshi, Jun Yoshimatsu, Akihiko Sekizawa, Naohiro Kanayama, Isamu Ishiwata, Tomoaki Ikeda
BACKGROUND: Cardiovascular diseases (CVD), both genetic and acquired, increase the risk of maternal death (MD) unless proper genetic/clinical counseling is provided and a multidisciplinary approach is adopted during pregnancy. In recent decades, there has been a significant increase in the number of women with CVD of child-bearing age and in the incidence of pregnancy among relatively older women. However, the impact of this phenomenon on MD has not been carefully investigated. METHODS: This retrospective study compares the incidence and etiology of maternal deaths related to cardiovascular disease (MD-CVD) in Japan in 2010-2012 to that seen in 1991-1992...
January 2017: Journal of Cardiology
Bertrand Cariou
Familial hypercholosterolemia (FH) is both a frequent (estimated prevalence of heterozygous FH: 1/200 to 1/500) and underdiagnosed (< 5 V of diagnosed FH in most countries) genetic disease. Non-treated FH is associated with an increased risk of coronary heart disease (CHD) linked to premature atherosclerosis. The diagnosis of FH should be considered when a subject presents with plasma LDL-cholesterol (LDL-C) level > 190 mg/dl (4.9 mmol/l), premature CHO, tendon xanthomas, familial history of hyperGholesterolemia, premature CHD or cardiac death...
October 2015: La Revue du Praticien
Cai-Xia Lu, Hai-Rong Gong, Xing-Yuan Liu, Juan Wang, Cui-Mei Zhao, Ri-Tai Huang, Song Xue, Yi-Qing Yang
Congenital heart disease (CHD), the most common type of developmental abnormality, is associated with substantial morbidity and mortality in humans worldwide. The basic helix-loop-helix transcription factor, heart and neural crest derivatives expressed 2 (HAND2), has been demonstrated to be crucial for normal cardiovascular development in animal models. However, whether a genetically defective HAND2 contributes to congenital heart disease (CHD) in humans remains to be explored. In this study, the entire coding region and splicing boundaries of the HAND2 gene were sequenced in a cohort of 145 unrelated patients with CHD...
February 2016: International Journal of Molecular Medicine
Neil F Goodman, Rhoda H Cobin, Walter Futterweit, Jennifer S Glueck, Richard S Legro, Enrico Carmina
Polycystic ovary syndrome (PCOS) is recognized as the most common endocrine disorder of reproductive-aged women around the world. This document, produced by the collaboration of the American Association of Clinical Endocrinologists and the Androgen Excess Society aims to highlight the most important clinical issues confronting physicians and their patients with PCOS. It is a summary of current best practices in 2014. Insulin resistance is believed to play an intrinsic role in the pathogenesis of PCOS. The mechanism by which insulin resistance or insulin give rise to oligomenorrhea and hyperandrogenemia, however, is unclear...
December 2015: Endocrine Practice
Margie Ream
Hypomelanosis of Ito, initially referred to as incontinentia pigmenti achromians, is a rare neurocutaneous disorder. Hypopigmented lesions following the lines of Blaschko are usually the presenting feature. Multiple organ systems can be involved including brain, musculoskeletal, cardiovascular, eyes, kidneys, and teeth. The neurologic complications can include seizures, hemimegalencephaly, developmental delay and abnormalities in tone. Genetic mosaicism is the most likely explanation for its inheritance. It must be distinguished from incontinentia pigmenti because at early stages, skin lesions can appear similar between the two conditions...
2015: Handbook of Clinical Neurology
Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, Barbara Oehl-Jaschkowitz, Luitgard Graul-Neumann, Katharina Diepold, Isolde Schreyer, Matthias K Bernhard, Franziska Mueller, Ulrike Siebers-Renelt, Ana Beleza-Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Juergen Winkler, Gerhard Schuierer, Ute Hehr
BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral findings have been observed and may help to establish the diagnosis including patent ductus arteriosus Botalli, progressive dystrophic cardiac valve disease and aortic dissection, chronic obstructive lung disease or chronic constipation...
2015: Orphanet Journal of Rare Diseases
Tracy L Schumacher, Tracy L Burrows, Deborah I Thompson, Neil J Spratt, Robin Callister, Clare E Collins
Offspring of parents with a history of cardiovascular disease (CVD) inherit a similar genetic profile and share diet and lifestyle behaviors. This study aimed to evaluate the feasibility of recruiting families at risk of CVD to a dietary prevention program, determine the changes in diet achieved, and program acceptability. Families were recruited into a pilot parallel group randomized controlled trial consisting of a three month evidence-based dietary intervention, based on the Mediterranean and Portfolio diets...
August 2015: Nutrients
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