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Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene

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Abstract
Background: Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease. Mitral- and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the Fibrillin1 gene. Methods: Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St. Louis (US). Results: We report on three cases from two families presenting end-stage heart failure (in two) and lethal arrhythmias associated with moderate left ventricular dilatation (in one). All three cases harbor a pathogenic variant in the SMAD3 gene, known to cause aneurysm osteoarthritis syndrome, Loeys-Dietz syndrome type 3 or isolated Heritable Thoracic Aortic Disease. Conclusions: These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts.
Keywords
aortic aneurysm, thoracic, heart failure, SMAD3, sudden cardiac death, MARFAN-SYNDROME, CARDIOMYOPATHY, ANEURYSMS, TRANSPLANTATION, OSTEOARTHRITIS, DISSECTION, MUTATIONS, ADULTS, MODEL

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MLA
De Backer, Julie, and Alan C Braverman. “Heart Failure and Sudden Cardiac Death in Heritable Thoracic Aortic Disease Caused by Pathogenic Variants in the SMAD3 Gene.” MOLECULAR GENETICS & GENOMIC MEDICINE 6.4 (2018): 648–652. Print.
APA
De Backer, Julie, & Braverman, A. C. (2018). Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. MOLECULAR GENETICS & GENOMIC MEDICINE, 6(4), 648–652.
Chicago author-date
De Backer, Julie, and Alan C Braverman. 2018. “Heart Failure and Sudden Cardiac Death in Heritable Thoracic Aortic Disease Caused by Pathogenic Variants in the SMAD3 Gene.” Molecular Genetics & Genomic Medicine 6 (4): 648–652.
Chicago author-date (all authors)
De Backer, Julie, and Alan C Braverman. 2018. “Heart Failure and Sudden Cardiac Death in Heritable Thoracic Aortic Disease Caused by Pathogenic Variants in the SMAD3 Gene.” Molecular Genetics & Genomic Medicine 6 (4): 648–652.
Vancouver
1.
De Backer J, Braverman AC. Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. MOLECULAR GENETICS & GENOMIC MEDICINE. 2018;6(4):648–52.
IEEE
[1]
J. De Backer and A. C. Braverman, “Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene,” MOLECULAR GENETICS & GENOMIC MEDICINE, vol. 6, no. 4, pp. 648–652, 2018.
@article{8562621,
  abstract     = {Background: Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease. Mitral- and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the Fibrillin1 gene. 
Methods: Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St. Louis (US). 
Results: We report on three cases from two families presenting end-stage heart failure (in two) and lethal arrhythmias associated with moderate left ventricular dilatation (in one). All three cases harbor a pathogenic variant in the SMAD3 gene, known to cause aneurysm osteoarthritis syndrome, Loeys-Dietz syndrome type 3 or isolated Heritable Thoracic Aortic Disease. 
Conclusions: These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts.},
  author       = {De Backer, Julie and Braverman, Alan C},
  issn         = {2324-9269},
  journal      = {MOLECULAR GENETICS & GENOMIC MEDICINE},
  keywords     = {aortic aneurysm,thoracic,heart failure,SMAD3,sudden cardiac death,MARFAN-SYNDROME,CARDIOMYOPATHY,ANEURYSMS,TRANSPLANTATION,OSTEOARTHRITIS,DISSECTION,MUTATIONS,ADULTS,MODEL},
  language     = {eng},
  number       = {4},
  pages        = {648--652},
  title        = {Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene},
  url          = {http://dx.doi.org/10.1002/mgg3.396},
  volume       = {6},
  year         = {2018},
}

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