scholarly journals Genetic testing for pulmonary stenosis

2018 ◽  
Vol 2 (s1) ◽  
pp. 58-60
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Autosomal Recessive Inheritance ◽  
Live Births ◽  
Gene Test ◽  
Pulmonary Arterial

Abstract Pulmonary stenosis (PS) is a congenital pulmonary valve malformation. It can be classified as valvular, subvalvular or supravalvular. Isolated forms of PS are rare. PS is associated with the development of massive pulmonary arterial dilatation. Patients with PS have a high consanguinity rate and the disorder is highly familial, which is why knowing the genetic aetiology of this defect is important. Prevalence is estimated at about 4/10,000 live births, and incidence at about 10% of all children with congenital heart defects. PS has prevalently autosomal dominant and rarely autosomal recessive inheritance. 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 Genetic testing for atrioventricular septal defect

2018 ◽  
Vol 2 (s1) ◽  
pp. 48-50
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Atrioventricular Septal Defect ◽  
Atrioventricular Canal ◽  
Atrioventricular Junction ◽  
Live Births ◽  
Gene Test ◽  
Atrioventricular Septation

Abstract Atrioventricular septal defect (AVSD) is a congenital heart defect characterized by a shared atrioventricular junction coexisting with deficient atrioventricular septation. The main morphological characteristic of AVSD is a common atrioventricular canal. The prevalence of AVSD is estimated at 0.31/1000 live births and is higher among subjects with PTPN11 mutations. ASD may have autosomal dominant or autosomal 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 Ebstein anomaly

2018 ◽  
Vol 2 (s1) ◽  
pp. 55-57
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
The Other ◽  
Dominant Inheritance ◽  
Ebstein Anomaly ◽  
Live Births ◽  
Downward Displacement ◽  
Gene Test

Abstract Ebstein anomaly (EA) is a rare congenital tricuspid valve malformation, characterized by downward displacement of the septal leaflet and an atrialized right ventricle. About 80% of cases of EA are non-syndromic; in the other 20%, the anomaly is associated with a chromosomal or Mendelian syndrome. The prevalence of EA is estimated at about 1 per 20,000 live births, and accounts for less than 1% of all congenital heart defects. EA has autosomal dominant inheritance. Likely causative genes are: NKX2-5, MYH7 and TPM1. 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, potential risk assessment and access to clinical trials.

scholarly journals Genetic testing for cystic hygroma

2018 ◽  
Vol 2 (s1) ◽  
pp. 22-25 ◽  
Author(s):  
Paolo Enrico Maltese ◽  
Yeltay Rakhmanov ◽  
Alessandra Zulian ◽  
Angelantonio Notarangelo ◽  
Matteo Bertelli
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Lymphatic System ◽  
Clinical Manifestations ◽  
Autosomal Recessive Inheritance ◽  
Cystic Hygroma ◽  
Recessive Inheritance ◽  
Live Births ◽  
Abnormal Accumulation ◽  
Gene Test

AbstractCystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. 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 Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart Disease

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 612
Author(s):  
Salam Massadeh ◽  
Maha Albeladi ◽  
Nour Albesher ◽  
Fahad Alhabshan ◽  
Kapil Dev Kampe ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Autosomal Recessive ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Autosomal Recessive Inheritance ◽  
Calcium Calmodulin Dependent ◽  
Recessive Mutations ◽  
Whole Exome ◽  
Dependent Protein ◽  
Inheritance Mode

Congenital heart defects (CHDs) are the most common types of birth defects, and global incidence of CHDs is on the rise. Despite the prevalence of CHDs, the genetic determinants of the defects are still in the process of being identified. Herein, we report a consanguineous Saudi family with three CHD affected daughters. We used whole exome sequencing (WES) to investigate the genetic cause of CHDs in the affected daughters. We found that all affected individuals were homozygous for a novel splice-altering variant (NM_001330069.1: c.265-1G>T) of PRKD1, which encodes a calcium/calmodulin-dependent protein kinase in the heart. The homozygous variant was found in the affected patients with Pulmonary Stenosis (PS), Truncus Arteriosis (TA), and Atrial Septal Defect (ASD). Based on the family’s pedigree, the variant acts in an autosomal recessive manner, which makes it the second autosomal recessive variant of PRKD1 to be identified with a link to CHDs, while all other previously described variants act dominantly. Interestingly, the father of the affected daughters was also homozygous for the variant, though he was asymptomatic of CHDs himself. Since both of his sisters had CHDs as well, this raises the possibility that the novel PRKD1 variant may undergo autosomal recessive inheritance mode with gender limitation. This finding confirms that CHD can be associated with both dominant and recessive mutations of the PRKD1 gene, and it provides a new insight to genotype–phenotype association between PRKD1 and CHDs. To our knowledge, this is the first report of this specific PRKD1 mutation associated with CHDs.

scholarly journals Genetic testing for coarctation of aorta

2018 ◽  
Vol 2 (s1) ◽  
pp. 64-66
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Neonatal Period ◽  
Heart Defects ◽  
Coarctation Of The Aorta ◽  
Coarctation Of Aorta ◽  
Descending Thoracic Aorta ◽  
Routine Examination ◽  
Live Births ◽  
Gene Test ◽  
Medial Thickening

Abstract Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). 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 Efficacy and safety of balloon valvuloplasty as a treatment of choice for pulmonary stenosis in children and adolescents

2014 ◽  
Vol 142 (9-10) ◽  
pp. 542-546
Author(s):  
Vojislav Parezanovic ◽  
Milan Djukic ◽  
Sanja Dzelebdzic ◽  
Tamara Ilisic ◽  
Igor Stefanovic ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Age Groups ◽  
Balloon Valvuloplasty ◽  
Pulmonary Artery Stenosis ◽  
Pulmonary Valve Insufficiency ◽  
Valve Insufficiency

Introduction. Pulmonary artery stenosis (PS) is a congenital heart defect which occurs in 10% of all congenital heart defects. Pulmonary balloon valvuloplasty (BVP) has been the treatment of choice of PS over the last 30 years. Objective. The purpose of this study was to evaluate the efficacy of this method based on middle-term hospital follow-up, and safety of BVP based on our experience. Methods. The study included 88 patients diagnosed with PS. The patients were divided into three groups based on the severity of the disease. Also, they were divided into two age groups in order to analyze the frequency of complications. Hemodynamic measurements and echocardiography results were recorded before, 24-36 hours after BVP and at the end of follow-up. Results. The studied group involved patients of average age 3.75?4.3 years (20 days to 17 years). Immediately after BVP a significant decrease of pressure gradient across the pulmonary valve (PV) was recorded in all patients; this result was similar in all 3 groups of patients regardless of the severity of stenosis (p<0.001). Complications of BVP occurred most commonly in children up to 12 months of age (ventricular tachycardia 4.5% and supraventricular tachycardia 6.8%). Pulmonary valve insufficiency after dilatation occurred in 6.6% of cases, and was most common in children aged up to 12 months. In 87 (98.9%) patients BVP was a definitive solution, and a significant residual stenosis was not recorded during follow-up. Conclusion. BVP is a safe and effective procedure in the treatment of isolated PS in children, regardless of the severity of stenosis but also regardless of patients? age.

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.

Comparison of Right Ventricular Stroke Work for Tetralogy Patient and Normal Subject

2008 ◽  
Author(s):  
Ashish Das ◽  
William Gottliebson ◽  
Rupak K. Banerjee
Keyword(s):  
Right Ventricular ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
The United States ◽  
Stroke Work ◽  
Loading Conditions ◽  
Clinical Issue

Tetralogy of Fallot (TOF), also called blue-baby syndrome is one of the most common congenital heart defects in children after infancy and is estimated to account for 10% of all congenital heart defects [3]. TOF consists of four interrelated lesions: i) ventricular septal defect ii) Pulmonary stenosis iii) Right ventricular (RV) hypertrophy and (iv) Overriding Aorta [3]. TOF has been successfully repaired for several decades (Fig. 1). There are now an estimated 100,000 adult “repaired TOF” patients in the United States alone. As a result, long-term sequelae of the disease and repair have become important clinical issue. Specifically, residual pulmonary valve insufficiency (PI) is one such accepted and often unavoidable sequela. PI, when severe, abnormally alters the RV loading conditions, thereby triggering RV hypertrophy and dilatation. In turn, RV dilatation can evolve into irreversible RV myocardial contractile dysfunction, and has been related to sudden death in many “repaired TOF” patients. To normalize RV loading conditions, pulmonary valve replacement is often necessary and should be performed prior to the onset of irreversible RV myocardial damage.

scholarly journals Genetic testing for ventricular septal defect

2018 ◽  
Vol 2 (s1) ◽  
pp. 51-54
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Autosomal Recessive Inheritance ◽  
Spontaneous Closure ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Gene Test ◽  
Vascular Beds

Abstract Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. 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 Genetic testing for tetralogy of Fallot

2018 ◽  
Vol 2 (s1) ◽  
pp. 71-73
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Right Ventricular ◽  
Tetralogy Of Fallot ◽  
Ventricular Hypertrophy ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Pulmonary Stenosis ◽  
Congenital Cardiac Defects ◽  
Gene Test

Abstract Tetralogy of Fallot (ToF) combines congenital cardiac defects including ventricular septal defect, pulmonary stenosis, an overriding aorta and right ventricular hypertrophy. Clinical manifestation of this defect depends on the direction and volume of shunting of blood through the ventricular septal defect and the associated right ventricular and pulmonary artery pressures. ToF accounts for 3-5% of congenital heart defects or 0.28 cases every 1000 live births. ToF has autosomal dominant inheritance. 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.

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