Talk:Cardiovascular System - Coarctation of the Aorta

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Cite this page: Hill, M.A. (2019, April 23) Embryology Cardiovascular System - Coarctation of the Aorta. Retrieved from


Eur J Hum Genet. 2019 Feb 22. doi: 10.1038/s41431-019-0363-z. [Epub ahead of print] Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. Luyckx I1, MacCarrick G2, Kempers M3, Meester J1, Geryl C1, Rombouts O1, Peeters N1, Claes C1, Boeckx N1, Sakalihasan N4, Jacquinet A5, Hoischen A3,6,7, Vandeweyer G1, Van Lent S1, Saenen J8, Van Craenenbroeck E8, Timmermans J9, Duijnhouwer A9, Dietz H2,10,11,12, Van Laer L1, Loeys B1,3, Verstraeten A13. Author information Abstract Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic dissections and ruptures. TAA is a common complication in patients with bicuspid aortic valve (BAV). Recently, rare loss-of-function SMAD6 variants were shown to contribute significantly to the genetic aetiology of BAV/TAA. Intriguingly, patients with craniosynostosis have also been reported to be explained molecularly by similar loss-of-function SMAD6 variants. While significantly reduced penetrance of craniosynostosis has been reported for the SMAD6 variants as such, near-complete penetrance is reached upon co-occurrence with a common BMP2 SNP risk allele. Here, we report on the results of a SMAD6-variant analysis in 473 unrelated non-syndromic TAA patients, of which the SMAD6-positive individuals were also studied for the presence of the BMP2 risk allele. Although only 14% of the TAA patients also presented BAV, all novel likely pathogenic SMAD6 variants (N = 7) were identified in BAV/TAA individuals, further establishing the role of SMAD6 variants to the aetiology of BAV/TAA and revealing limited contribution to TAA development in patients with a tricuspid aortic valve. Familial segregation studies confirmed reduced penetrance (82%) and variable clinical expressivity, with coarctation of the aorta being a common comorbidity. None of our six BMP2+/SMAD6+ patients presented with craniosynostosis. Hence, the proposed digenic model for craniosynostosis was not supported in the presented BAV/TAA cohort, suggesting that additional factors are at play. Finally, our data provide improved insights into the clinical spectrum of SMAD6-related BAV/TAA and has important implications for molecular diagnostics. PMID: 30796334 DOI: 10.1038/s41431-019-0363-z

J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):88-93. doi: 10.4274/jcrpe.galenos.2018.2018.0005. Epub 2018 May 9. Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome Siller AF1, Shimony A1, Shinawi M1, Amarillo I2, Dehner LP2, Semenkovich K1, Arbeláez AM1. Author information Abstract We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less frequently seen in TS. These included recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite minimal treatment with growth hormone, behavioral problems and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells. While fluorescence in situ hybridization (FISH) failed to detect Y-chromosome material in gonadal tissue or blood samples, chromosomal microarray analysis (CMA) confirmed X monosomy and a 4.69 Mb copy number loss on 1q31.2q31.3 (bp 192,715,814 to 197,401,180). This region contains the CDC73 gene which has been associated with hyperparathyroidism-jaw tumor syndrome, features of which include recurrent, functional parathyroid adenomas and behavioral issues. This case illustrates how atypical features in a TS patient, such as robust growth and recurrent parathyroid adenomas, may suggest an underlying molecular etiology that should be explored by additional genetic diagnostic modalities. It is therefore appropriate in such cases to conduct further genetic testing, such as CMA and FISH, to explore other diagnostic possibilities and possibly prevent further complications. KEYWORDS: Turner syndrome; genetic testing; hyperparathyroidism; inherited 1q deletion; signs of Y-chromosomal influence PMID: 29739732 DOI: 10.4274/jcrpe.galenos.2018.2018.0005

Asian Cardiovasc Thorac Ann. 2019 Feb 12:218492318804948. doi: 10.1177/0218492318804948. [Epub ahead of print] A complex case of aortic arch interruption and hypoplastic descending aorta. Pérez-Andreu J1, Fernández-Doblas J1, Giralt García G2, Roses F2, Abella RF1. Author information Abstract The case of a newborn with a post-ductal interrupted aortic arch combined with severe hypoplasia of the thoracic descending aorta and intracardiac defects is described. Extraanatomic bypass surgery was performed in the neonatal period to connect the ascending and descending parts of the aorta. Closure of a ventricular septal defect and excision of hypertrophied bands in the right ventricle with subsequent ventriculotomy were delayed beyond neonatal age. KEYWORDS: Aorta; Aortic coarctation; Blood vessel prosthesis implantation; Heart defects; Infant; Ventricular outflow obstruction; congenital; newborn; thoracic PMID: 30754985 DOI: 10.1177/0218492318804948

Comput Methods Biomech Biomed Engin. 2019 Feb 4:1-15. doi: 10.1080/10255842.2018.1564821. [Epub ahead of print] The effect of including increased arterial stiffness in the upper body when modelling Coarctation of the Aorta. Pathirana D1, Johnston B1, Johnston P1. Author information Abstract Coarctation of the Aorta is a congenital narrowing of the aorta and diagnosis can be difficult. Treatments result in idiopathic sequelae including hypertension. Untreated patients are known to develop increased arterial stiffness in the upper body, which worsens with time. We present results from simulations with a one-dimensional mathematical model, about the effect of stiffness, stenting, surgery and coarctation severity on blood pressure, Pulsatility and Resistivity Index. One conclusion is that increased stiffness may explain both hypertension in treated patients and why diagnosis can be difficult. KEYWORDS: Aorta; coarctation; diagnosis; modelling; stiffness; treatments PMID: 30714407 DOI: 10.1080/10255842.2018.1564821

J Anat. 2019 Feb;234(2):193-200. doi: 10.1111/joa.12911. Epub 2018 Dec 7. A new anatomic approach of the ventricular septal defect in the interruption of the aortic arch. Mostefa Kara M1,2, Houyel L3, Bonnet D1,2. Author information Abstract The aim of this study was to analyse the anatomy of the ventricular septal defect (VSD) in heart specimens with interruption of the aortic arch (IAA) in order to explore the hypothesis of different embryologic mechanisms for the different anatomic types of IAA. We examined 42 human heart specimens, 25 with IAA as the main disease with concordant atrioventricular and ventriculo-arterial connections and two distinct great arteries, and 17 hearts with IAA associated with other malformations [six common arterial trunk (CAT), five double-outlet right ventricle (DORV), three transposition of the great arteries (TGA), three atrioventricular septal defect (AVSD)]. The interruption was classified according to Celoria and Patton. We focused on the anatomy of the VSD viewed from the right ventricular side. There were 15 IAA type A, 27 type B, no type C. The VSD in IAA type B was always an outlet VSD, located between the two limbs of the septal band, with posterior malalignment of the outlet septum in hearts with concordant ventriculo-arterial connections, without any fibrous tricuspid-aortic continuity. In addition, the aortic arch was always completely absent. Conversely, the VSD in IAA type A could be of any type (outlet in six, muscular in four, central perimembranous in two, inlet in three) and the aortic arch was either atretic or absent. In addition, IAA type B, when found in the setting of another anomaly, was always associated with neural crest-related anomalies (CAT and DORV), whereas IAA type A was found in association with anomalies not related to the neural crest (TGA and AVSD). These results reinforce the hypothesis that different pathogenic mechanisms are responsible for the two types of IAA, and the inclusion of IAA type B in the group of neural crest defects. Conversely, IAA type A could be due to overlapping mechanisms: flow-related defect (coarctation-like) and neural crest contribution. © 2018 Anatomical Society. KEYWORDS: congenital heart disaese; interruption aortic arch; ventricular septal defect PMID: 30525196 DOI: 10.1111/joa.12911