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https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#1
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28614229/familial-clustering-of-congenital-deafness-patent-ductus-arteriosus-eisenmenger-complex-and-differential-cyanosis-a-case-report
#2
Ting-Wei Lin, Chih-Wei Tseng, Chi-Yao Huang, Kuo-Yang Wang, Kae-Woei Liang
RATIONALE: Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without facial, skeletal, or mental abnormalities. PATIENT CONCERNS: Two brothers, who were deaf and had PDA with Eisenmenger complex, were first seen at our Cardiology clinic at the ages of 25 and 41, respectively. They presented with progressive dyspnea on exertion. Upon physical examination, both brothers had clubbing and/or cyanotic toes, normal fingers, and without facial, skeletal, ophthalmological, or mental abnormalities...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#3
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#4
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
May 22, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28589536/distinguishing-pathogenic-mutations-from-background-genetic-noise-in-cardiology-the-use-of-large-genome-databases-for-genetic-interpretation
#5
REVIEW
Jonas Ghouse, Morten W Skov, Robert S Bigseth, Gustav Ahlberg, Jørgen K Kanters, Morten S Olesen
Advances in clinical genetic testing has led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings...
June 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28586605/burden-of-atherosclerosis-risk-among-different-ethinicity-a-hidden-health-challenge
#6
Tariq Ashraf, Kanwal Fatima Aamir, Abdul Samad Achakzai, Naeem Mengal, Muhammad Tariq Karim
OBJECTIVE: Atherosclerosis risk and incidence of developing chronic cardiovascular conditions vary greatly between ethnic groups in South Asian population. To evaluate different ethnic groups in Pakistan, population based study was conducted at Karachi, the largest metropolitan city of Pakistan; to assess ten years and lifetime estimated cardiovascular disease risks without preexisting cardiovascular disease in Pakistani subjects by using Pooled Cohort Risk equation (calculator) as per American College of Cardiology (ACC) and the American Heart Association (AHA) 2013 guidelines...
October 2016: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28579060/human-dihydrolipoamide-dehydrogenase-e3-deficiency-novel-insights-into-the-structural-basis-and-molecular-pathomechanism
#7
REVIEW
Attila Ambrus, Vera Adam-Vizi
This review summarizes our present view on the molecular pathogenesis of human (h) E3-deficiency caused by a variety of genetic alterations with a special emphasis on the moonlighting biochemical phenomena related to the affected (dihydro)lipoamide dehydrogenase (LADH, E3, gene: dld), in particular the generation of reactive oxygen species (ROS). E3-deficiency is a rare autosomal recessive genetic disorder frequently presenting with a neonatal onset and premature death; the highest carrier rate of a single pathogenic dld mutation (1:94-1:110) was found among Ashkenazi Jews...
June 2, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28533687/pulmonary-hypertension-and-vasculopathy-in-incontinentia-pigmenti-a-case-report
#8
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/28510718/multimodality-imaging-in-restrictive-cardiomyopathies-an-eacvi-expert-consensus-document-in-collaboration-with-the-working-group-on-myocardial-and-pericardial-diseases-of-the-european-society-of-cardiology-endorsed-by-the-indian-academy-of-echocardiography
#9
Gilbert Habib, Chiara Bucciarelli-Ducci, Alida L P Caforio, Nuno Cardim, Philippe Charron, Bernard Cosyns, Aurélie Dehaene, Genevieve Derumeaux, Erwan Donal, Marc R Dweck, Thor Edvardsen, Paola Anna Erba, Laura Ernande, Oliver Gaemperli, Maurizio Galderisi, Julia Grapsa, Alexis Jacquier, Karin Klingel, Patrizio Lancellotti, Danilo Neglia, Alessia Pepe, Pasquale Perrone-Filardi, Steffen E Petersen, Sven Plein, Bogdan A Popescu, Patricia Reant, L Elif Sade, Erwan Salaun, Riemer H J A Slart, Christophe Tribouilloy, Jose Zamorano
Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role. Advanced imaging techniques provide important novel data on the diagnostic and prognostic assessment of RCMs. This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM...
May 16, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28484805/-practical-guidelines-for-genetic-testing-in-cardiovascular-diseases
#10
W Reinhard, T Trenkwalder, H Schunkert
In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management...
May 8, 2017: Herz
https://www.readbyqxmd.com/read/28464769/adult-stem-cell-therapy-for-cardiac-repair-in-patients-after-acute-myocardial-infarction-leading-to-ischemic-heart-failure-an-overview-of-evidence-from-the-recent-clinical-trials
#11
Rygiel Katarzyna
Cardiovascular diseases (CVD) still represent the leading cause of mortality worldwide, despite the remarkable advances in interventional cardiology, cardiac surgery, and modern pharmacotherapy, particularly in the setting of acute myocardial infarction (AMI), chronic ischemic heart failure (HF), cardiomyopathy (CM), and the associated left ventricular (LV) dysfunction. A significant loss of cardiomyocytes that underlies all of these conditions was previously considered irreversible. However, current evidence indicates that the human heart has some potential for repair, and over the past decade, many research studies have been exploring the use of stem cells (SCs) to facilitate restoration of myocardium...
May 1, 2017: Current Cardiology Reviews
https://www.readbyqxmd.com/read/28444681/-wolf-hirschhorn-syndrome-description-of-a-spanish-cohort-of-51-cases-and-a-literature-review
#12
R Blanco-Lago, I Malaga-Dieguez, J J Granizo-Martinez, L Carrera-Garcia, P Barruz-Galian, P Lapunzina, J Nevado-Blanco, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn
INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS: To establish a register of patients with WHS in Spain, describe their characteristics, determine the prevalence of epilepsy, estimate the degree of psychomotor retardation and perform a review of the literature in order to compare these data with those published to date...
May 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28429694/the-rationale-and-design-of-the-national-familial-hypercholesterolemia-registries-in-turkey-a-hit1-and-a-hit2-studies
#13
Meral Kayıkçıoğlu, Lale Tokgözoğlu
OBJECTIVE: Familial hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol, leading to premature atherosclerosis. Although many countries have already addressed the burden of FH by means of national registries, Turkey has no national FH registry or national screening program to detect FH. Creation of a series of FH registries is planned as part of Turkish FH Initiative endorsed by the Turkish Society of Cardiology to meet this need. This article provides detailed information on the rationale and design of the first 2 FH registries (A-HIT1 and A-HIT2)...
April 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28425041/familial-amyloid-cardiomyopathy-masquerading-as-chronic-guillain-barre-syndrome-things-are-not-always-what-they-seem
#14
Die Hu, Ling Liu, Shuguang Yuan, Yuhong Yi, Daoquan Peng
Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium...
April 19, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28405885/sudden-death-due-to-catecholaminergic-polymorphic-ventricular-tachycardia-following-negative-stress-test-outcome-genetics-and-clinical-implications
#15
Cristian D'Ovidio, Aldo Carnevale, Vincenzo M Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia...
April 13, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28356445/diagnosis-treatment-and-long-term-management-of-kawasaki-disease-a-scientific-statement-for-health-professionals-from-the-american-heart-association
#16
REVIEW
Brian W McCrindle, Anne H Rowley, Jane W Newburger, Jane C Burns, Anne F Bolger, Michael Gewitz, Annette L Baker, Mary Anne Jackson, Masato Takahashi, Pinak B Shah, Tohru Kobayashi, Mei-Hwan Wu, Tsutomu T Saji, Elfriede Pahl
BACKGROUND: Kawasaki disease is an acute vasculitis of childhood that leads to coronary artery aneurysms in ≈25% of untreated cases. It has been reported worldwide and is the leading cause of acquired heart disease in children in developed countries. METHODS AND RESULTS: To revise the previous American Heart Association guidelines, a multidisciplinary writing group of experts was convened to review and appraise available evidence and practice-based opinion, as well as to provide updated recommendations for diagnosis, treatment of the acute illness, and long-term management...
April 25, 2017: Circulation
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#17
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28317158/left-ventricular-hypertrophy-or-storage-disease-the-incremental-value-of-speckle-tracking-strain-bull-s-eye
#18
REVIEW
Antonello D'Andrea, Juri Radmilovic, Piercarlo Ballo, Donato Mele, Eustachio Agricola, Matteo Cameli, Andrea Rossi, Roberta Esposito, Giuseppina Novo, Sergio Mondillo, Roberta Montisci, Sabina Gallina, Eduardo Bossone, Maurizio Galderisi
Left ventricular hypertrophy (LVH) develops in response to a variety of physical, genetic, and biochemical stimuli and represents the early stage of ventricular remodeling. In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis. Strain measurement with two-dimensional speckle tracking echocardiography (STE) represents a highly reproducible and accurate alternative to LVEF determination...
May 2017: Echocardiography
https://www.readbyqxmd.com/read/28295036/a-novel-recessive-ttn-founder-variant-is-a-common-cause-of-distal-myopathy-in-the-serbian-population
#19
Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28290871/-proprotein-convertase-subtilisin-kexin-type-9-pcsk9-new-opportunities-of-lipid-lowering-therapy
#20
K S Astrakova, Yu I Ragino, E V Shakhtshneider, M I Voevoda
In the literature review covered issues opening protein-proprotein convertase, subtilisin/kexin-type9 (PCSK9), its modern terminology, the results of its biochemical, molecular and genetic studies, metabolic regulation, functions and clinical findings in the blood content ofPCSK9 in lipid disorders and clinical pharmacological studies of monoclonal antibodies to this protein for the correction of lipid metabolism of major interest for cardiology and lipidology.
September 2016: Kardiologiia
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