scholarly journals Genetic testing for aortic valve stenosis

2018 ◽  
Vol 2 (s1) ◽  
pp. 61-63
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alessandra Zulian ◽  
Stefano Paolacci ◽  
Tommaso Beccari ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Aortic Valve ◽  
Aortic Valve Stenosis ◽  
Autosomal Dominant ◽  
Left Ventricular ◽  
Dominant Inheritance ◽  
Gene Test ◽  
Left Ventricular Outflow

Abstract Aortic valve stenosis (AVS) is a congenital aortic defect in which the aortic lumen narrows due to thickening or calcification of the aortic valve without obstructing left ventricular outflow. Depending on the site of obstruction, AVS is classified as valvular, sub-valvular or supra-valvular. The prevalence of AVS is about 3% and increases with age. One in eight persons over the age of 75 years has moderate or severe AVS. AVS has autosomal dominant inheritance. It can be associated with mutations in the following genes: NOTCH1, SMAD6, SMAD4, and ELN. This Utility Gene Test was developed on the basis of the analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials, when available.

scholarly journals Genetic testing for hereditary hemorrhagic telangiectasia

2018 ◽  
Vol 2 (s1) ◽  
pp. 32-34
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Carla Marinelli ◽  
Raul Ettore Mattassi ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
De Novo ◽  
Incomplete Penetrance ◽  
Gene Test ◽  
Vascular Dysplasia

Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for lymphatic malformations with or without primary lymphedema

2018 ◽  
Vol 2 (s1) ◽  
pp. 5-9 ◽  
Author(s):  
Stefano Paolacci ◽  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alessandra Zulian ◽  
Sandro Michelini ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Somatic Mutations ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Lymphatic Endothelial Cells ◽  
Lymphatic Malformations ◽  
Gene Test ◽  
Primary Lymphedema

Abstract Lymphatic malformations (LMs) show phenotypic variability, as well as clinical and genetic heterogeneity. Inheritance is autosomal dominant, recessive or X-linked and major genes involved in predisposition for LMs are continuously being discovered. The literature also indicates that somatic mutations play an important role in the development of LMs. In fact, activating somatic mutations in PIK3CA have been reported in lymphatic endothelial cells obtained from patients with different kinds of LM. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Upregulated Autophagy in Calcific Aortic Valve Stenosis Confers Protection of Valvular Interstitial Cells

2019 ◽  
Vol 20 (6) ◽  
pp. 1486 ◽  
Author(s):  
Miguel Carracedo ◽  
Oscar Persson ◽  
Peter Saliba-Gustafsson ◽  
Gonzalo Artiach ◽  
Ewa Ehrenborg ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Aortic Valve Stenosis ◽  
Interstitial Cells ◽  
Left Ventricular ◽  
Autophagic Flux ◽  
Valvular Interstitial Cells ◽  
Survival Mechanism ◽  
Calcified Tissue ◽  
Left Ventricular Outflow

Autophagy serves as a cell survival mechanism which becomes dysregulated under pathological conditions and aging. Aortic valve thickening and calcification causing left ventricular outflow obstruction is known as calcific aortic valve stenosis (CAVS). CAVS is a chronic and progressive disease which increases in incidence and severity with age. Currently, no medical treatment exists for CAVS, and the role of autophagy in the disease remains largely unexplored. To further understand the role of autophagy in the progression of CAVS, we analyzed expression of key autophagy genes in healthy, thickened, and calcified valve tissue from 55 patients, and compared them with nine patients without significant CAVS, undergoing surgery for aortic regurgitation (AR). This revealed a upregulation in autophagy exclusively in the calcified tissue of CAVS patients. This difference in autophagy between CAVS and AR was explored by LC3 lipidation in valvular interstitial cells (VICs), revealing an upregulation in autophagic flux in CAVS patients. Inhibition of autophagy by bafilomycin-A1 led to a decrease in VIC survival. Finally, treatment of VICs with high phosphate led to an increase in autophagic activity. In conclusion, our data suggests that autophagy is upregulated in the calcified tissue of CAVS, serving as a compensatory and pro-survival mechanism.

scholarly journals Genetic testing for atrial septal defect

2018 ◽  
Vol 2 (s1) ◽  
pp. 45-47
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Atrial Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Atrial Septum ◽  
Recessive Inheritance ◽  
Live Births ◽  
Gene Test

Abstract Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum. About 1/3 of patients with Noonan syndrome caused by mutation in the PTPN11 gene have ASD. The prevalence of ASD is estimated at 100 per 100,000 live births. ASD may have autosomal dominant or recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Genetic testing for lymphedema-distichiasis syndrome

2018 ◽  
Vol 2 (s1) ◽  
pp. 13-15
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Carla Marinelli ◽  
Matteo Bertelli
Keyword(s):  
Risk Assessment ◽  
Clinical Trials ◽  
Differential Diagnosis ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Double Row ◽  
Primary Lymphedema

AbstractWe studied the scientific literature and disease guidelines to summarize the clinical utility of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner, and has unknown prevalence. It is caused by variations in the FOXC2 gene. Clinical diagnosis involves clinical examination, targeted at identifying primary lymphedema (chronic swelling of the extremities) and distichiasis (double row of eyelashes). The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Congenital Aortic Valve Stenosis

Children ◽  
2019 ◽  
Vol 6 (5) ◽  
pp. 69 ◽  
Author(s):  
Gautam K. Singh
Keyword(s):  
Aortic Valve ◽  
Aortic Valve Stenosis ◽  
Left Ventricular Outflow Tract ◽  
Significant Risk ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Outflow Tract ◽  
Ventricular Outflow Tract Obstruction ◽  
Young Infants ◽  
Left Ventricular Outflow

Aortic valve stenosis in children is a congenital heart defect that causes fixed form of hemodynamically significant left ventricular outflow tract obstruction with progressive course. Neonates and young infants who have aortic valve stenosis, usually develop congestive heart failure. Children and adolescents who have aortic valve stenosis, are mostly asymptomatic, although they may carry a small but significant risk of sudden death. Transcatheter or surgical intervention is indicated for symptomatic patients or those with moderate to severe left ventricular outflow tract obstruction. Many may need reintervention.

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