cardiovascular abnormalities


Summary: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.

Top Publications

  1. Poprawski K, Michalski M, Ławniczak M, Łacka K. Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review. Pol Arch Med Wewn. 2009;119:453-60 pubmed
    ..Cardiovascular diseases account for a threefold higher mortality in women with Turner syndrome (TS). It has also been suggested that the occurrence of these diseases is dependent on karyotype...
  2. Thomas P, Kim J, Nunez S, Glogauer M, Kaartinen V. Neural crest cell-specific deletion of Rac1 results in defective cell-matrix interactions and severe craniofacial and cardiovascular malformations. Dev Biol. 2010;340:613-25 pubmed publisher
  3. Goergen C, Li H, Francke U, Taylor C. Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities. J Vasc Res. 2011;48:119-29 pubmed publisher
    ..5-Mb deletion. The aim of this study was to determine how the genetic changes in a Wbs mouse model alter Eln expression, blood pressure, vessel structure, and abdominal aortic wall dynamics in vivo...
  4. Pasquali D, Arcopinto M, Renzullo A, Rotondi M, Accardo G, Salzano A, et al. Cardiovascular abnormalities in Klinefelter syndrome. Int J Cardiol. 2013;168:754-9 pubmed publisher
    ..Little information is available about the nature of the underlying cardiovascular abnormalities. Aim of the study was to investigate exercise performance, left ventricular architecture and function, ..
  5. Ilagan R, Abu Issa R, Brown D, Yang Y, Jiao K, Schwartz R, et al. Fgf8 is required for anterior heart field development. Development. 2006;133:2435-45 pubmed
    ..Analysis of downstream signaling components, such as phosphorylated-Erk and Pea3, identifies the AHF splanchnic mesoderm itself as a target for Fgf8 signaling. ..
  6. High F, Zhang M, Proweller A, Tu L, Parmacek M, Pear W, et al. An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation. J Clin Invest. 2007;117:353-63 pubmed
    ..These results provide a molecular and cellular framework for understanding the role of Notch signaling in the etiology of congenital heart disease. ..
  7. Limongelli G, Pacileo G, Marino B, Digilio M, Sarkozy A, Elliott P, et al. Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol. 2007;100:736-41 pubmed
    ..Long-term prognosis was benign, but the occurrence of 4 fatal events in patients with LV hypertrophy indicates that such patients require careful risk assessment and, in some cases, consideration for prophylaxis against sudden death...
  8. van de Laar I, van der Linde D, Oei E, Bos P, Bessems J, Bierma Zeinstra S, et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet. 2012;49:47-57 pubmed publisher
    ..b>Cardiovascular abnormalities were present in almost 90% of patients, and involved mainly aortic aneurysms and dissections...
  9. Miano J, Ramanan N, Georger M, de Mesy Bentley K, Emerson R, Balza R, et al. Restricted inactivation of serum response factor to the cardiovascular system. Proc Natl Acad Sci U S A. 2004;101:17132-7 pubmed
    ..These results suggest a vital role for SRF in contractile/cytoskeletal architecture necessary for the proper assembly and function of cardiomyocytes and vascular SMC. ..

More Information


  1. Mohapatra B, Casey B, Li H, Ho Dawson T, Smith L, Fernbach S, et al. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18:861-71 pubmed publisher
    ..Taken together, these results support a role for mutations and rare deleterious variants in NODAL as a cause for sporadic human LR patterning defects. ..
  2. Peng X, Wu X, Druso J, Wei H, Park A, Kraus M, et al. Cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase (FAK) conditional knockout mice. Proc Natl Acad Sci U S A. 2008;105:6638-43 pubmed publisher
    ..Last, we found that Src, but not PI3K, is important in mediating signal transduction for the regulation of MEF2a by FAK. Together, these results identified the role and mechanisms of FAK in embryonic cardiac development. ..
  3. Jenkins K, Correa A, Feinstein J, Botto L, Britt A, Daniels S, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115:2995-3014 pubmed
    ..Issues related to pregnancy monitoring are discussed. Knowledge gaps and future sources of new information on risk factors are described. ..
  4. Liang X, Sun Y, Schneider J, Ding J, Cheng H, Ye M, et al. Pinch1 is required for normal development of cranial and cardiac neural crest-derived structures. Circ Res. 2007;100:527-35 pubmed
    ..Together, our results demonstrate that Pinch1 plays an essential role in neural crest development, perhaps in part through transforming growth factor-beta signaling. ..
  5. Zhu H, Wlodarczyk B, Scott M, Yu W, Merriweather M, Gelineau van Waes J, et al. Cardiovascular abnormalities in Folr1 knockout mice and folate rescue. Birth Defects Res A Clin Mol Teratol. 2007;79:257-68 pubmed
  6. Ho V, Bakalov V, Cooley M, Van P, Hood M, Burklow T, et al. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation. 2004;110:1694-700 pubmed
    ..Improved recognition of these often-undetected vascular lesions may be important for identification of patients in need of closer cardiovascular monitoring. ..
  7. Conway S, Kruzynska Frejtag A, Kneer P, Machnicki M, Koushik S. What cardiovascular defect does my prenatal mouse mutant have, and why?. Genesis. 2003;35:1-21 pubmed
    ..b>Cardiovascular abnormalities include the failure to establish an adequate yolk-sac vascular circulation, which results in early ..
  8. Meneton P, Bloch Faure M, Hagege A, Ruetten H, Huang W, Bergaya S, et al. Cardiovascular abnormalities with normal blood pressure in tissue kallikrein-deficient mice. Proc Natl Acad Sci U S A. 2001;98:2634-9 pubmed
    ..tissue kallikrein are unable to generate significant levels of kinins in most tissues and develop cardiovascular abnormalities early in adulthood despite normal blood pressure...
  9. Lin A, Birch P, Korf B, Tenconi R, Niimura M, Poyhonen M, et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. Am J Med Genet. 2000;95:108-17 pubmed
    ..a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common...
  10. Tanaka M, Chen Z, Bartunkova S, Yamasaki N, Izumo S. The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development. 1999;126:1269-80 pubmed
    ..5 null cells exert dominant interfering effects on cardiac development, and (6) there were severe defects in yolk sac angiogenesis and hematopoiesis in the Csx/Nkx2.5 null embryos. ..
  11. Galvin K, Donovan M, Lynch C, Meyer R, Paul R, Lorenz J, et al. A role for smad6 in development and homeostasis of the cardiovascular system. Nat Genet. 2000;24:171-4 pubmed
    ..expression is largely restricted to the heart and blood vessels, and that Madh6 mutants have multiple cardiovascular abnormalities. Hyperplasia of the cardiac valves and outflow tract septation defects indicate a function for Smad6 in ..
  12. Millucci L, Bernardini G, Spreafico A, Orlandini M, Braconi D, Laschi M, et al. Histological and Ultrastructural Characterization of Alkaptonuric Tissues. Calcif Tissue Int. 2017;101:50-64 pubmed publisher
    ..Additional manifestations are cardiovascular abnormalities, renal, urethral and prostate calculi and scleral and ear involvement...
  13. Lin A, Ardinger H, Pierpont M. Classification of cardiovascular malformations associated with neuroblastoma. J Pediatr. 2005;146:439-41; author reply 441-3 pubmed
  14. Hardin J, Carmichael S, Selvin S, Lammer E, Shaw G. Increased prevalence of cardiovascular defects among 56,709 California twin pairs. Am J Med Genet A. 2009;149A:877-86 pubmed publisher
    ..Increased concordance for flow lesions in monozygotic twins was observed, an observation that is in agreement with findings from familial recurrence studies of cardiovascular defects...
  15. Schelleman H, Bilker W, Kimmel S, Daniel G, Newcomb C, Guevara J, et al. Amphetamines, atomoxetine and the risk of serious cardiovascular events in adults. PLoS ONE. 2013;8:e52991 pubmed publisher
    ..However, some of the confidence intervals do not exclude modest elevated risks, e.g. for sudden death/ventricular arrhythmia. ..
  16. Kuzdas D, Stemberger S, Gaburro S, Stefanova N, Singewald N, Wenning G. Oligodendroglial alpha-synucleinopathy and MSA-like cardiovascular autonomic failure: experimental evidence. Exp Neurol. 2013;247:531-6 pubmed publisher
  17. Kokotsakis I, Harling L, Anagnostakou V, Tassopoulos D, Charitos C, Ashrafian H, et al. Single-stage surgical repair in a complex case of aberrant right subclavian artery aneurysm and common carotid trunk. J Cardiothorac Surg. 2013;8:112 pubmed publisher
    ..1% of the population. We report the case of a 77-year-old Caucasian man presenting with dysphagia and dyspnea secondary to an aberrant right subclavian artery aneurysm and describe our technique for open surgical repair. ..
  18. Sato K, Amanuma M, Fukusato T, Sohara N, Kakizaki S, Takagi H, et al. Diffuse hepatic vascular malformations with right aortic arch. J Hepatol. 2005;43:1094-5 pubmed
  19. Siegel M. Computed tomography of pediatric cardiovascular disease. J Thorac Imaging. 2010;25:256-66 pubmed publisher
    ..In addition, understanding the techniques for performing CT in the pediatric population, including the risks, is essential for the radiologist. ..
  20. Metwalley K, Farghaly H, Sherief T. Left ventricular dysfunction and subclinical atherosclerosis in children with classic congenital adrenal hyperplasia: a single-center study from upper Egypt. Eur J Pediatr. 2016;175:405-12 pubmed publisher
    ..These findings highlight early monitoring of children with CAH for cardiovascular abnormalities.
  21. Scorza C, Calderazzo L, Arida R, Cavalheiro E, Scorza F. Environmental air pollution is an aggravating event for sudden unexpected death in epilepsy. Arq Neuropsiquiatr. 2013;71:807-10 pubmed publisher
    ..other hand, discovering and carefully evaluating new risk factors that may contribute to the onset of cardiovascular abnormalities in people with refractory epilepsy may prevent fatal events in these individuals...
  22. Wang Y, Hu G, Liu F, Wang X, Wu M, Schwarz J, et al. Deletion of yes-associated protein (YAP) specifically in cardiac and vascular smooth muscle cells reveals a crucial role for YAP in mouse cardiovascular development. Circ Res. 2014;114:957-65 pubmed publisher
    ..YAP plays a critical role in cardiac/SMC proliferation during cardiovascular development by epigenetically regulating expression of a set of cell cycle suppressors. ..
  23. Koreckij J, Alvi H, Gibly R, Pang E, Hsu W. Incidence and risk factors of the retropharyngeal carotid artery on cervical magnetic resonance imaging. Spine (Phila Pa 1976). 2013;38:E109-12 pubmed publisher
    ..6% of patients. In elderly females with kyphotic alignment, a high index of suspicion must be raised for aberrancy. Preoperative assessment of the vasculature in the anterior neck may avoid catastrophic complications. ..
  24. Menke A, Muntner P, Fernandez Real J, Guallar E. The association of biomarkers of iron status with mortality in US adults. Nutr Metab Cardiovasc Dis. 2012;22:734-40 pubmed publisher
  25. Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois M, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet. 2005;13:690-3 pubmed
    ..They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication. ..
  26. Czeizel A, Dobó M, Vargha P. Hungarian cohort-controlled trial of periconceptional multivitamin supplementation shows a reduction in certain congenital abnormalities. Birth Defects Res A Clin Mol Teratol. 2004;70:853-61 pubmed
    ..a significant reduction in the first occurrence of neural tube defects (NTDs), and of urinary tract and cardiovascular abnormalities, but no reduction in orofacial clefts...
  27. Okamura Y, Saga Y. Pofut1 is required for the proper localization of the Notch receptor during mouse development. Mech Dev. 2008;125:663-73 pubmed publisher
    ..We propose that altered trafficking pathways may account for the abnormal accumulation of the Notch1 receptor in the endoplasmic reticulum in Pofut1-null mouse embryos. ..
  28. Lee E, Boiselle P, Shamberger R. Multidetector computed tomography and 3-dimensional imaging: preoperative evaluation of thoracic vascular and tracheobronchial anomalies and abnormalities in pediatric patients. J Pediatr Surg. 2010;45:811-21 pubmed publisher
  29. McBride K, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005;134A:180-6 pubmed
    ..This data can also provide families with important information for screening asymptomatic relatives for potentially harmful cardiac defects. ..
  30. Park E, Ogden L, Talbot A, Evans S, Cai C, Black B, et al. Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling. Development. 2006;133:2419-33 pubmed
    ..These findings provide a novel insight into how the formation and remodeling of primary and anterior heart field-derived structures rely on Fgf8 signals from discrete temporospatial domains. ..
  31. Limperopoulos C. Disorders of the fetal circulation and the fetal brain. Clin Perinatol. 2009;36:561-77 pubmed publisher
    ..The progress to date with the application of these techniques is reviewed in this article. ..
  32. Tischfield M, Bosley T, Salih M, Alorainy I, Sener E, Nester M, et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet. 2005;37:1035-7 pubmed
    ..This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system. ..
  33. An J, Seo J, Tasaki T, Lee M, Varshavsky A, Kwon Y. Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. Proc Natl Acad Sci U S A. 2006;103:6212-7 pubmed
  34. Ma L, Selamet Tierney E, Lee T, Lanzano P, Chung W. Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies. Cardiol Young. 2012;22:194-201 pubmed publisher
    ..5%. Our results expand the mutation spectrum of monogenic heterotaxy syndrome with associated cardiac anomalies and suggest that there are other causes of heterotaxy yet to be identified. ..
  35. Christison Lagay E, Fishman S. Vascular anomalies. Surg Clin North Am. 2006;86:393-425, x pubmed
  36. Takahashi S, Okada K, Orihashi K, Sueda T. Arterio-oesophageal fistula caused by aberrant right subclavian artery aneurysm. Interact Cardiovasc Thorac Surg. 2013;16:920-2 pubmed publisher
    ..Gastrostomy was performed for decompression of the oesophagus and enteric feeding. Three months after the operation, gastrointestinal endoscopy showed a healed oesophageal ulcer, and the patient was discharged uneventfully. ..
  37. Danielpour P, Aalberg J, El Ramey M, Sivina M, Wodnicki H. Persistent left superior vena cava: an incidental finding during central venous catheterization-a case report. Vasc Endovascular Surg. 2005;39:109-11 pubmed
    ..PLSVC is most often discovered subsequent to central venous or pulmonary artery catheter placement. ..
  38. Sawasdiwipachai P, Laussen P, McGowan F, Smoot L, Casta A. Cardiac arrest after neuromuscular blockade reversal in a heart transplant infant. Anesthesiology. 2007;107:663-5 pubmed
  39. Azhar M, Ware S. Genetic and Developmental Basis of Cardiovascular Malformations. Clin Perinatol. 2016;43:39-53 pubmed publisher
    ..This article discusses the key genetic concepts characterizing human CVMs, their developmental basis, and the critical developmental and genetic concepts underlying their pathogenesis. ..
  40. Jefferies J, Pignatelli R, Martinez H, Robbins Furman P, Liu P, Gu W, et al. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012;14:90-4 pubmed publisher
    b>Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities...
  41. Rychik J, Tian Z, Bebbington M, Xu F, McCann M, Mann S, et al. The twin-twin transfusion syndrome: spectrum of cardiovascular abnormality and development of a cardiovascular score to assess severity of disease. Am J Obstet Gynecol. 2007;197:392.e1-8 pubmed
    ..65). We describe the spectrum of cardiovascular abnormalities that are seen in twin-twin transfusion syndrome and propose a scoring system for assessment of severity. ..
  42. Rockson S. Lymphedema therapy in the vascular anomaly patient: therapeutics for the forgotten circulation. Lymphat Res Biol. 2005;3:253-5 pubmed
  43. Simpson J. Echocardiographic evaluation of cardiac function in the fetus. Prenat Diagn. 2004;24:1081-91 pubmed
    ..This article will review some of the techniques that may be used to evaluate fetal cardiac function and will also emphasise some of the limitations of such techniques. ..
  44. Barnes M, Mitchell M, Tweddell J. Aortopulmonary window. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2011;14:67-74 pubmed publisher
    ..Long-term follow-up is indicated to look for recurrent lesions such as the development of branch pulmonary artery stenosis and arch obstruction. ..
  45. Sugimura Y, Murase T, Kobayashi K, Oyama K, Hayasaka S, Kanou Y, et al. Alpha-lipoic acid reduces congenital malformations in the offspring of diabetic mice. Diabetes Metab Res Rev. 2009;25:287-94 pubmed publisher
    ..LA treatment also decreased the incidence of CVMs from 30-3% and of skeletal malformations from 29-6%. We conclude that LA can reduce NTDs, CVMs and skeletal malformations in the offspring of diabetic mice at term delivery. ..
  46. Ying Z, Ma J, Xu G, Chen M. Double superior vena cava with a persistent left superior vena cava. Intern Med. 2008;47:679-80 pubmed
  47. Ronchey S, Serrao E, Kasemi H, Fazzini S, Mangialardi N. Endovascular treatment of extracranial vertebral artery aneurysm and aberrant right subclavian artery aneurysm. J Cardiovasc Surg (Torino). 2014;55:265-9 pubmed
    ..Long-term follow-up is necessary. To our knowledge this is a unique case in the literature. ..
  48. van Lieshout J, Bruland I, Fischer I, Cornelius J, Kamp M, Turowski B, et al. Increased mortality of patients with aneurysmatic subarachnoid hemorrhage caused by prolonged transport time to a high-volume neurosurgical unit. Am J Emerg Med. 2017;35:45-50 pubmed publisher
    ..The emergency physician should be aware that cardiovascular abnormalities are a relevant complication and sometimes the first identified clinical feature of high-grade ..
  49. de Salvi Guimarães F, de Moraes W, Bozi L, Souza P, Antonio E, Bocalini D, et al. Dexamethasone-induced cardiac deterioration is associated with both calcium handling abnormalities and calcineurin signaling pathway activation. Mol Cell Biochem. 2017;424:87-98 pubmed publisher
    ..Dexamethasone-treated rats showed several cardiovascular abnormalities, including elevated blood pressure, diastolic dysfunction, cardiac fibrosis, and cardiomyocyte ..
  50. Salinas Torres V, Ramos Márquez M, Serra Ruiz L, Angulo Castellanos E. [Unusual branchial arch, dermoepidermal and nervous system anomalies in a neonate with VACTERL-H syndrome]. Arch Argent Pediatr. 2012;110:e67-71 pubmed publisher
    ..Based on our experience, the presentation of this case not only expands the knowledge of the spectrum of anomalies that can occur in VACTERL-H syndrome, but also can be useful in identifying patients with this heterogeneous phenotype. ..
  51. Javois A, Patel D, Roberson D, Husayni T. Pre-existing left pulmonary artery stenosis and other anomalies associated with device occlusion of patent ductus arteriosus. Catheter Cardiovasc Interv. 2007;70:83-9 pubmed
    ..Incidence, etiology, and clinical significance of these anomalies are discussed with specific new recommendations for the prevention of LRLN injury and occlusion of AP collaterals. ..
  52. Okuda H, Nagao T. Cardiovascular malformations induced by prenatal exposure to phenobarbital in rats. Congenit Anom (Kyoto). 2006;46:97-104 pubmed
    ..Severe cardiovascular malformations induced by PB caused deaths on early postnatal days. However, slight malformations such as isolated VSD persisted until weaning, and did not affect postnatal viability. ..
  53. Kubiena H, Liang M, Mulliken J. Genuine diffuse phlebectasia of Bockenheimer: dissection of an eponym. Pediatr Dermatol. 2006;23:294-7 pubmed