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Inherited cardiovascular

Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
Uros Kuzmanov, Hongbo Guo, Diana Buchsbaum, Jake Cosme, Cynthia Abbasi, Ruth Isserlin, Parveen Sharma, Anthony O Gramolini, Andrew Emili
Phospholamban (PLN) plays a central role in Ca(2+) homeostasis in cardiac myocytes through regulation of the sarco(endo)plasmic reticulum Ca(2+)-ATPase 2A (SERCA2A) Ca(2+) pump. An inherited mutation converting arginine residue 9 in PLN to cysteine (R9C) results in dilated cardiomyopathy (DCM) in humans and transgenic mice, but the downstream signaling defects leading to decompensation and heart failure are poorly understood. Here we used precision mass spectrometry to study the global phosphorylation dynamics of 1,887 cardiac phosphoproteins in early affected heart tissue in a transgenic R9C mouse model of DCM compared with wild-type littermates...
October 14, 2016: Proceedings of the National Academy of Sciences of the United States of America
Stephanie Romanus, Patrick Neven, Adelheid Soubry
The Developmental Origins of Health and Disease (DOHaD) theory focuses on the consequences of periconceptional and in utero exposures. A wide range of environmental conditions during early development are now being investigated as a driving force for epigenetic disruptions that enhance disease risk in later life, including cardiovascular, metabolic, endocrine, and mental disorders and even breast cancer. Most studies involve mother-child dyads, with less focus on environmental influences through the father...
October 12, 2016: Breast Cancer Research: BCR
Akiko Ohashi, Yusuke Saeki, Tomonori Harada, Masako Naito, Tomihisa Takahashi, Shin Aizawa, Hiroyuki Hasegawa
Tetrahydrobiopterin (BH4) is an essential cofactor of nitric oxide synthase (NOS) and aromatic amino acid hydroxylases. BH4 and 7,8-dihydrobiopterin (BH2) are metabolically interchangeable at the expense of NADPH. Exogenously administered BH4 can be metabolized by the body, similar to vitamins. At present, synthetic BH4 is used as an orphan drug for patients with inherited diseases requiring BH4 supplementation. BH4 supplementation has also drawn attention as a means of treating certain cardiovascular symptoms, however, its application in human patients remains limited...
2016: PloS One
Ashley Rhodes, Lindsey Rosman, John Cahill, Jodie Ingles, Brittney Murray, Crystal Tichnell, Cynthia A James, Samuel F Sears
Genetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD...
September 30, 2016: Journal of Genetic Counseling
Srijita Sen-Chowdhry, Daniel Jacoby, James C Moon, William J McKenna
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment...
November 2016: Nature Reviews. Cardiology
S Sayols-Baixeras, I Subirana, C Lluis-Ganella, F Civeira, J Roquer, A N Do, D Absher, D Muñoz, C Soriano-Tárraga, J Jiménez-Conde, J Ordovas, M Senti, S Aslibekyan, J Marrugat, D K Arnett, R Elosua
Lipid traits (total, low-density and high-density lipoprotein cholesterol, and triglycerides) are risk factors for cardiovascular disease. DNA methylation is an inherited but also modifiable epigenetic mark that has been related to cardiovascular risk factors. Our aim was to identify loci showing differential DNA methylation related to serum lipid levels. Blood DNA methylation was assessed using the Illumina HumanMethylation450 BeadChip. A two-stage epigenome-wide association study was performed, with a discovery sample in the REGICOR study (n=645) and validation in the Framingham Offspring Study (n=2,542)...
September 15, 2016: Human Molecular Genetics
Sushma Malik, Mani Singhal, Shruti Sudhir Jadhav, Charusheela Sujit Korday, Chitra Shivanand Nayak
BACKGROUND: Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenburg syndrome, congenital central hypoventilation, or cartilage-hair hypoplasia) or with a spectrum of congenital anomalies involving neurological, cardiovascular, or urological systems or with sensorineural anomalies...
2016: Journal of Medical Case Reports
Iris Oliva, Montse Guardiola, Joan-Carles Vallvé, Daiana Ibarretxe, Núria Plana, Lluís Masana, David Monk, Josep Ribalta
Apolipoprotein A5 gene (APOA5) variability explains part of the individual's predisposition to hypertriacylglycerolaemia (HTG). Such predisposition has an inherited component (polymorphisms) and an acquired component regulated by the environment (epigenetic modifications). We hypothesize that the integrated analysis of both components will improve our capacity to estimate APOA5 contribution to HTG. We followed a recruit-by-genotype strategy to study a population composed of 44 individuals with high cardiovascular disease risk selected as being carriers of at least one APOA5 SNP (-1131T>C and/or, S19W and/or 724C>G) compared against 34 individuals wild-type (WT) for these SNPs...
November 1, 2016: Clinical Science (1979-)
Mimi C Tran, Joseph M Lam
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders characterized by deficiencies in specific enzymes involved in the catabolism of glycosaminoglycans (GAGs). These deficiencies cause excessive metabolites to accumulate in multiple organs. There are eight different MPS disorders, contributing to the wide variation in clinical presentation. Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. Children with MPS can present with neurologic, behavioral, skeletal, cardiovascular, gastrointestinal, or respiratory abnormalities...
September 7, 2016: Pediatric Dermatology
Anastasia V Ponasenko, Maria V Khutornaya, Anton G Kutikhin, Natalia V Rutkovskaya, Anna V Tsepokina, Natalia V Kondyukova, Arseniy E Yuzhalin, Leonid S Barbarash
Severe bioprosthetic mitral valve calcification is a significant problem in cardiovascular surgery. Unfortunately, clinical markers did not demonstrate efficacy in prediction of severe bioprosthetic mitral valve calcification. Here, we examined whether a genomics-based approach is efficient in predicting the risk of severe bioprosthetic mitral valve calcification. A total of 124 consecutive Russian patients who underwent mitral valve replacement surgery were recruited. We investigated the associations of the inherited variation in innate immunity, lipid metabolism and calcium metabolism genes with severe bioprosthetic mitral valve calcification...
2016: International Journal of Molecular Sciences
Frederick J Raal, Marjet J Braamskamp, Sheryl L Selvey, Charlotte H Sensinger, John J Kastelein
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited condition resulting in severely elevated low-density lipoprotein cholesterol levels (LDL-C) leading to premature cardiovascular disease and, often, death. Mipomersen is an antisense oligonucleotide that inhibits apolipoprotein B (apo B) synthesis, lowering LDL-C levels. Mipomersen has demonstrated efficacy in adult HoFH patients, possibly providing a therapeutic option for pediatric patients. Study objectives were to summarize mipomersen efficacy and safety in the pediatric cohort of a phase 3 randomized controlled trial (RCT) and subsequent open-label extension study (OLE)...
July 2016: Journal of Clinical Lipidology
Rita Ostan, Daniela Monti, Paola Gueresi, Mauro Bussolotto, Claudio Franceschi, Giovannella Baggio
Data showing a remarkable gender difference in life expectancy and mortality, including survival to extreme age, are reviewed starting from clinical and demographic data and stressing the importance of a comprehensive historical perspective and a gene-environment/lifestyle interaction. Gender difference regarding prevalence and incidence of the most important age-related diseases, such as cardiovascular and neurodegenerative diseases, cancer, Type 2 diabetes, disability, autoimmunity and infections, are reviewed and updated with particular attention to the role of the immune system and immunosenescence...
October 1, 2016: Clinical Science (1979-)
Zhenhua Dai, Golay D Nie
Previous studies have demonstrated that patients develop de novo cardiovascular risk factors following hematopoietic stem cell transplantation (HSCT)(1). The risk of developing metabolic syndrome in HSCT survivors was increased when compared to normal subjects (2, 3). HSCT survivors were also more likely to develop hyperinsulinemia, impaired glucose tolerance, hypertriglyceridemia and abdominal obesity than non-HSCT patients or healthy controls (4). This article is protected by copyright. All rights reserved...
August 24, 2016: American Journal of Transplantation
Vito Maurizio Parato, Valeria Antoncecchi, Fabiola Sozzi, Stefania Marazia, Annapaola Zito, Maria Maiello, Pasquale Palmiero
Hypertrophic Cardiomyopathy (HCM) is an inherited cardiovascular disorder of great genetic heterogeneity and has a prevalence of 0.1 - 0.2 % in the general population. Several hundred mutations in more than 27 genes, most of which encode sarcomeric structures, are associated with the HCM phenotype. Then, HCM is an extremely heterogeneous disease and several phenotypes have been described over the years. Originally only two phenotypes were considered, a more common, obstructive type (HOCM, 70 %) and a less common, non-obstructive type (HNCM, 30 %) (Maron BJ, et al...
2016: Cardiovascular Ultrasound
S Kiando, N Tucker, L Castro-Vega, D Cusi, P Galan, Empana J-P, J Olin, H Gornik, P-F Plouin, I Kullo, D Milan, S Ganesh, P Boutouyrie, J Kovacic, X Jeunemaitre, N Bouatia-Naji
OBJECTIVE: Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD has higher prevalence in females (80-90%) and predisposes to hypertension and stroke but its pathophysiology is unclear. DESIGN AND METHOD: We performed a multistage genetic association study (1,154 patients and 3,895 controls) from five case-control cohorts. We investigated the association between rs9349379 in the phosphatase and actin regulator 1 gene (PHACTR1) and carotid traits by echo-tracking in healthy volunteers, the expression of PHACTR1 by genotypes in human fibroblasts, protein staining pattern in human carotids, and vasculature development after Phactr1 knockdown in zebrafish...
September 2016: Journal of Hypertension
Elena Loche, Susan E Ozanne
PURPOSE OF REVIEW: Here, we provide a summary of the current knowledge on the impact of early life nutrition on cardiovascular diseases that have emerged from studies in humans and experimental animal models. The involvement of epigenetic mechanisms in the Developmental Origins of Health and Disease will be discussed in relation to the implications for the heart and the cardiovascular system. RECENT FINDINGS: Environmental cues, such as parental diet and a suboptimal in utero environment can shape growth and development, causing long-lasting cardiometabolic perturbations...
October 2016: Current Opinion in Lipidology
Michael M Mendelson, Asya Lyass, Christopher J O'Donnell, Ralph B D'Agostino, Daniel Levy
IMPORTANCE: Dyslipidemia in young adults in the United States during their childbearing years is common, and the consequences for the next generation are poorly understood. Further understanding of the harmful consequences of elevated low-density lipoprotein cholesterol (LDL-C) levels in young adults may help to inform population screening and management strategies. OBJECTIVE: To examine whether adult levels of serum LDL-C are associated with maternal prepregnancy LDL-C levels beyond that attributable to inherited genetic sequence polymorphisms, diet, physical activity, and body mass index...
April 1, 2016: JAMA Cardiology
Marina M Hanson, Fengming Liu, Shen Dai, Alison Kearns, Xuebin Qin, Elizabeth C Bryda
Effective methods for cell ablation are important tools for examining the anatomical, functional, and behavioral consequences of selective loss of specific cell types in animal models. We have developed an ablation system based on creating genetically modified animals that express human CD59 (hCD59), a membrane receptor, and administering intermedilysin (ILY), a toxin produced by Streptococcus intermedius, which binds specifically to hCD59 to induce cell lysis. As proof-of-concept in the rat, we generated an anemia model, SD-Tg(CD59-HBA1)Bryd, which expresses hCD59 on erythrocytes...
August 1, 2016: Physiological Genomics
Mercedes Martinez, Susan Brodlie, Adam Griesemer, Tomoaki Kato, Patricia Harren, Bruce Gordon, Thomas Parker, Daniel Levine, Theodore Tyberg, Thomas Starc, Iksung Cho, James Min, Kimberly Elmore, Steven Lobritto, Lisa Cooper Hudgins
Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited, life-threatening, metabolic disorder of low-density lipoprotein (LDL) receptor function characterized by elevated serum LDL cholesterol (LDL-C) and rapidly progressive atherosclerotic cardiovascular disease (ACVD). Since LDL receptors are predominantly found on hepatocytes, orthotopic liver transplantation (OLT) has emerged as a viable intervention for HoFH because LDL receptor activity is restored. This study assessed the effects of OLT on ACVD and ACVD risk factors in pediatric patients with HoFH...
August 15, 2016: American Journal of Cardiology
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