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genetic causes of congenital heart disease

Lijiang Ma, Wendy K Chung
Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary arterioles, leading to progressive elevation of pulmonary artery pressure and pulmonary vascular resistance, and right ventricular failure. Historically it has been associated with a high mortality rate, although over the last decade, treatment has improved survival. PAH includes idiopathic PAH (IPAH), heritable PAH (HPAH), and PAH associated with certain medical conditions...
October 22, 2016: Journal of Pathology
Diego A Lara, Mary K Ethen, Mark A Canfield, Wendy N Nembhard, Shaine A Morris
BACKGROUND: Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. METHODS: The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-)...
September 29, 2016: Congenital Heart Disease
Seema Mital, Kiran Musunuru, Vidu Garg, Mark W Russell, David E Lanfear, Rajat M Gupta, Kathleen T Hickey, Michael J Ackerman, Marco V Perez, Dan M Roden, Daniel Woo, Caroline S Fox, Stephanie Ware
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged...
September 26, 2016: Circulation. Cardiovascular Genetics
Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
2016: Journal of Contemporary Dental Practice
Francesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, Alicia Braxton, Mahshid S Azamian, Mohammad K Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Christine M Eng, Neil A Hanchard, Tamar Harel, Jill A Rosenfeld, John W Belmont, James R Lupski, Yaping Yang
Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like protein and its loss of function is known to cause laterality defects in mouse and medaka fish models...
October 6, 2016: American Journal of Human Genetics
Florencia Del Viso, Fang Huang, Jordan Myers, Madeleine Chalfant, Yongdeng Zhang, Nooreen Reza, Joerg Bewersdorf, C Patrick Lusk, Mustafa K Khokha
Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC) could cause Htx/CHD was undefined. Here, we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact...
September 12, 2016: Developmental Cell
Maria G Andreassi, Alessandro Della Corte
PURPOSE OF REVIEW: The incidence of aortic dilation and acute complications (rupture and dissection) is higher in patients with a bicuspid aortic valve (BAV), the most frequent congenital heart defect.The present review focuses on the current knowledge in the genetics of BAV, emphasizing the clinical implications for early detection and personalized care. RECENT FINDINGS: BAV is a highly heritable trait, but the genetic causes remain largely elusive. NOTCH1 is the only proven candidate gene to be associated with both familial and sporadic BAV...
November 2016: Current Opinion in Cardiology
Eloisa Arbustini, Valentina Favalli, Nupoor Narula, Alessandra Serio, Maurizia Grasso
Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, and trabeculae represent a sort of individual "cardioprinting." By itself, the diagnosis of LVNC does not coincide with that of a "cardiomyopathy" because it can be observed in healthy subjects with normal LV size and function, and it can be acquired and is reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy; the paradigmatic examples are infantile tafazzinopathies...
August 30, 2016: Journal of the American College of Cardiology
Patrick Y Jay, Ehiole Akhirome, Rachel A Magnan, M Rebecca Zhang, Lillian Kang, Yidan Qin, Nelson Ugwu, Suk Dev Regmi, Julie M Nogee, James M Cheverud
Despite decades of progress, congenital heart disease remains a major cause of mortality and suffering in children and young adults. Prevention would be ideal, but formidable biological and technical hurdles face any intervention that seeks to target the main causes, genetic mutations in the embryo. Other factors, however, significantly modify the total risk in individuals who carry mutations. Investigation of these factors could lead to an alternative approach to prevention. To define the risk modifiers, our group has taken an "experimental epidemiologic" approach via inbred mouse strain crosses...
November 5, 2016: Molecular and Cellular Endocrinology
Yi-Meng Zhou, Xiao-Yong Dai, Ri-Tai Huang, Song Xue, Ying-Jia Xu, Xing-Biao Qiu, Yi-Qing Yang
Dilated cardiomyopathy (DCM) is the most prevalent form of primary cardiomyopathy in humans and is a leading cause of heart failure and sudden cardiac death. Genetic abnormalities have been demonstrated to be a major contributor to the development of DCM. However, DCM is a genetically heterogeneous disease, and the genetic basis underlying DCM in a significant proportion of patients remains unclear. In the current study, the coding exons and splicing junction sites of the T‑Box 20 (TBX20) gene, which encodes a T‑box transcription factor essential for cardiac morphogenesis and structural remodeling, were sequenced in 115 unrelated patients with idiopathic DCM, and a novel heterozygous mutation, p...
October 2016: Molecular Medicine Reports
Despina Bournele, Dimitris Beis
Cardiovascular disease (CVD) is one of the leading causes of death worldwide. The most significant risk factors associated with the development of heart diseases include genetic and environmental factors such as hypertension, high blood cholesterol levels, diabetes, smoking, and obesity. Coronary artery disease accounts for the highest percentage of CVD deaths and stroke, cardiomyopathies, congenital heart diseases, heart valve defects and arrhythmias follow. The causes, prevention, and treatment of all forms of cardiovascular disease remain active fields of biomedical research, with hundreds of scientific studies published on a weekly basis...
August 8, 2016: Heart Failure Reviews
Marjan Shakiba, Fatemeh Mahjoub, Hassan Fazilaty, Fereshteh Rezagholizadeh, Arghavan Shakiba, Maryam Ziadlou, William A Gahl, Babak Behnam
Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGUOK genes and deficiencies of cystathionine β-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase...
2016: Adv Rare Dis
Jaeger P Ackerman, John A Smestad, David J Tester, Muhammad Y Qureshi, Beau A Crabb, Nancy J Mendelsohn, Michael J Ackerman
OBJECTIVE: To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. METHODS AND RESULTS: A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal defect, ventricular septal defect, and patent ductus arteriosus that were closed surgically. Subsequently, the phenotype of polyvalvular syndrome with involvement of both semilunar and both atrioventricular valves emerged...
September 2016: Congenital Heart Disease
Golukhova E Z, Gromova O I, Shomahov R A, Bulaeva N I, Bockeria L A
The abrupt cessation of effective cardiac function that is generally due to heart rhythm disorders can cause sudden and unexpected death at any age and is referred to as a syndrome called "sudden cardiac death" (SCD). Annually, about 400,000 cases of SCD occur in the United States alone. Less than 5% of the resuscitation techniques are effective. The prevalence of SCD in a population rises with age according to the prevalence of coronary artery disease, which is the most common cause of sudden cardiac arrest...
April 2016: Acta Naturae
Hongjun Shi, Victoria C O'Reilly, Julie L M Moreau, Therese R Bewes, Michelle X Yam, Bogdan E Chapman, Stuart M Grieve, Roland Stocker, Robert M Graham, Gavin Chapman, Duncan B Sparrow, Sally L Dunwoodie
Congenital heart disease (CHD) is an enigma. It is the most common human birth defect and yet, even with the application of modern genetic and genomic technologies, only a minority of cases can be explained genetically. This is because environmental stressors also cause CHD. Here we propose a plausible non-genetic mechanism for induction of CHD by environmental stressors. We show that exposure of mouse embryos to short-term gestational hypoxia induces the most common types of heart defect. This is mediated by the rapid induction of the unfolded protein response (UPR), which profoundly reduces FGF signaling in cardiac progenitor cells of the second heart field...
July 15, 2016: Development
Wei Su, Peng Zhu, Ruochen Wang, Qingping Wu, Mengdie Wang, Xiaofeng Zhang, Li Mei, Juesi Tang, Mahesh Kumar, Xianjun Wang, Li Su, Nianguo Dong
Congenital heart disease (CHD), one cause of childhood morbidity and mortality, is mainly triggered by a combination of environmental and genetic factors. Several susceptible genes, such as NKX2-5, GATA4 and TBX5, have been reported as closely related to heart and vessel development. CHD subtypes are classified by diverse clinical phenotypes such as atrial septal defects (ASD), ventricular septal defects (VSD), tetralogy of Fallot (TOF), and Holt-Oram syndrome (HOS). Here, we summarize the associations of the genetic variants in these three genes with CHD subtypes...
July 18, 2016: Clinical Genetics
Soo Yeon Kim, Sun Ah Choi, Sangmoon Lee, Jin Sook Lee, Che Ry Hong, Byung Chan Lim, Hyoung Jin Kang, Ki Joong Kim, Sung-Hye Park, Murim Choi, Jong-Hee Chae
Farber disease is a very rare autosomal recessive disease caused by mutation of ASAH1 that results in the accumulation of ceramide in various tissues. Clinical symptoms of classic Farber disease comprise painful joint deformity, hoarseness of voice, and subcutaneous nodules. Here, we describe a patient with Farber disease with atypical presentation of early onset hypotonia, sacral mass, congenital heart disease, and dysmorphic face since birth. Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed...
July 13, 2016: American Journal of Medical Genetics. Part A
Peter J Schwartz, Federica Dagradi
Management of survivors of cardiac arrest is largely based on a traditional approach. However, during the past decade, arrhythmias of genetic origin have increasingly been recognized as contributing to many more cases than previously appreciated. This realization is forcing physicians managing the survivors of cardiac arrest also to consider family members. In this Perspectives article, we examine the appropriate management approaches for survivors of cardiac arrests related to channelopathies, cardiomyopathies, or ischaemic heart disease, and for their families...
September 2016: Nature Reviews. Cardiology
Filomena Gabriella Fulcoli, Monica Franzese, Xiangyang Liu, Zhen Zhang, Claudia Angelini, Antonio Baldini
Congenital heart disease (CHD) affects eight out of 1,000 live births and is a major social and health-care burden. A common genetic cause of CHD is the 22q11.2 deletion, which is the basis of the homonymous deletion syndrome (22q11.2DS), also known as DiGeorge syndrome. Most of its clinical spectrum is caused by haploinsufficiency of Tbx1, a gene encoding a T-box transcription factor. Here we show that Tbx1 positively regulates monomethylation of histone 3 lysine 4 (H3K4me1) through interaction with and recruitment of histone methyltransferases...
2016: Nature Communications
Bram Peters, Janneke H M Schuurs-Hoeijmakers, Joris Fuijkschot, Annette Reimer, Michiel van der Flier, Dorien Lugtenberg, Esther P A H Hoppenreijs
BACKGROUND: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoprotein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation...
2016: Pediatric Rheumatology Online Journal
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