scholarly journals Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease

2020 ◽  
Vol 23 (5) ◽  
pp. 356-358
Author(s):  
Mahdi Bijanzadeh ◽  
Shahram Rajaei Behbahani
Keyword(s):  
Early Life ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Klinefelter Syndrome ◽  
Clinical Feature ◽  
Pulmonary Valve Stenosis ◽  
Rare Occurrence ◽  
Septal Defects ◽  
Double Trisomy

Double trisomy 48, XXY, +21 or Down-Klinefelter syndrome is a rare occurrence and presents clinical manifestation of trisomy 21 in early life and of Klinefelter syndrome after 10 months of age. The phenotypic and karyotyping characteristics of a 2-month-old boy were reported. He had mild clinical feature of Down syndrome and echocardiographic features of atrioventricular (AV) septal defects with severe pulmonary valve stenosis.

Congenital heart defects in La Réunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies registry

2012 ◽  
Vol 22 (5) ◽  
pp. 547-557 ◽  
Author(s):  
Hélène Bourdial ◽  
Karim Jamal-Bey ◽  
Abdelhafid Edmar ◽  
Dominique Caillet ◽  
Françoise Wuillai ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Valve Stenosis ◽  
La Réunion ◽  
Ventricular Septal Defects ◽  
Perinatal Deaths ◽  
Septal Defects ◽  
Total Prevalence

AbstractObjectivesThis study compares the prevalence and perinatal mortality of congenital heart defects on La Réunion with European (EUROCAT) standards.Methods and resultsData were extracted from a EUROCAT-affiliated congenital malformations registry, covering 88,025 births during the period 2002–2007, on the whole island territory. A total of 512 congenital heart defects were registered, including 424 live births, 18 foetal deaths from 16 weeks of gestation, and 70 terminations of pregnancy. The total prevalence of congenital heart defects was 5.8 per 1000 births and live birth prevalence was 4.8 per 1000. The total prevalence of non-chromosomal congenital heart defects was 5.1 per 1000 births, of which 3% were perinatal deaths, 33.3% prenatally diagnosed, and 11.6% termination of pregnancy. Severe non-chromosomal congenital heart defects – excluding ventricular septal defects, atrial septal defects, and pulmonary valve stenosis – occurred in 2.1 per 1000 births, of which 10.3% were perinatal deaths, 59.1% prenatally diagnosed, and 24.3% termination of pregnancy. Of the severe congenital heart defects, the rates of single ventricle (0.20‰), Ebstein anomaly (0.11‰), common arterial trunk (0.25‰), and atrioventricular septal defect (0.62‰) exceeded averages found in Europe, although coarctation of the aorta was infrequent. Conversely, rates of ventricular septal defects, atrial septal defects, and pulmonary valve stenosis were inferior to European standards. Slightly less than half of the congenital heart defects of chromosomal origin were associated with Down syndrome.ConclusionIn La Réunion, the total prevalence of congenital heart defects is far inferior to that found in Europe. The difference can be attributable to lower prevalences of mild congenital heart defects.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis

2013 ◽  
Vol 56 (3) ◽  
pp. 144-149 ◽  
Author(s):  
M. Cristina Digilio ◽  
Laura Bernardini ◽  
Federica Consoli ◽  
Francesca R. Lepri ◽  
M. Grazia Giuffrida ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Pulmonary Valve Stenosis ◽  
Rare Association ◽  
1Q21.1 Deletion

scholarly journals Long-term survival in patients with isolated pulmonary valve stenosis: a not so benign disease?

Open Heart ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. e001836
Author(s):  
Kristofer Skoglund ◽  
Annika Rosengren ◽  
Georgios Lappas ◽  
Maria Fedchenko ◽  
Zacharias Mandalenakis
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Diagnosis ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Survival Rates ◽  
Pulmonary Valve Stenosis ◽  
Term Survival ◽  
Risk Of Mortality

Background and objectivesDuring the last decades, the survival rates in patients with congenital heart disease have increased dramatically, particularly in patients with complex heart malformations. However, the survival in patients with simple defects is still unknown. We aimed to determine the characteristics and the risk of mortality in patients with isolated pulmonary valve stenosis (PS).MethodsSwedish inpatient, outpatient and cause of death registries were used to identify patients born between 1970 and 2017 with a diagnosis of PS, without any other concomitant congenital heart lesion. For each patient with PS, 10 control individuals without congenital heart disease were matched by birth year and sex from the total population registry. We used median-unbiased method and Kaplan-Meier survival analysis to examine the risk of mortality.ResultsWe included 3910 patients with PS and 38 770 matched controls. The median age of diagnosis of PS was 0.7 years (IQR 0.3–7.0). During a median follow-up of 13.5 years (IQR 6.5–23.5), 88 patients with PS and 192 controls died; 500 patients with PS (12%) underwent at least one transcatheter or surgical valve intervention. The overall mortality rate was significantly higher in patients with PS compared with matched controls (HR 4.67, 95% CI 3.61 to 5.99, p=0.001). Patients with an early diagnosis of PS (0–1 year) had the highest risk of mortality (HR 10.99, 95% CI 7.84 to 15.45).ConclusionsIn this nationwide, register-based cohort study, we found that the risk of mortality in patients with PS is almost five times higher compared with matched controls. Patients with an early diagnosis of PS appears to be the most vulnerable group and the regular follow-up in tertiary congenital heart units may be the key to prevention.

scholarly journals P1465 Ventricular septal defect and pulmonary artery aneurysm; How does it look by three dimensional echocardiography

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
H S A Abdelgawad ◽  
M Abdelnabi ◽  
A Almaghrabi ◽  
M Shehata ◽  
M A Abdelhay
Keyword(s):  
Shear Stress ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Maximum Diameter ◽  
Surgical Closure ◽  
Septal Defects ◽  
Aneurysm Formation

Abstract Introduction Pulmonary artery (PA) aneurysms (PAAs) are rare and infrequently diagnosed . The upper limit of the main PA diameter (29 mm) was defined as a PAA. Congenital causes have been recognized as the major reason for PAA formation. More than 50% of all cases were associated with congenital heart disease. The 3 most frequent congenital heart defects associated with a PAA are, in decreasing order, persistent ductus arteriosus (PDA), ventricular septal defects (VSD) , and atrial septal defects (ASD).En face visualization of the whole circumference of the VSD and its relation to the surrounding structures can help in better understanding of the shear stress that promote PAA formation. Case report A 35 year old female patient with no previous cardiac history .She presented to our medical facility complaining of exertional dyspnea since 2 years . On clinical examination, she had harsh pansystolic murmur heard over left parasternal area . 2D Transthoracic Echocardiography revealed an aneurysmally dilated pulmonary artery (40mm in maximum diameter) and a wide VSD. 3D transthoracic and transesophageal echocardiography showed a wide subarterial VSD which is immediately located below the pulmonary valve. Therefore , that increased flow caused by left-to-right shunt caused by the intimate location of the VSD to the pulmonary valve results in increased hemodynamic shear stress on the vessel walls and therefore promotes aneurysm formation .Surgical closure of the VSD was done successfully with no residual defects. Conclusion PAAs seldom occur, are rarely diagnosed, and do not present with distinct symptoms. With the help of 3D echocardiography , direct visualization of the surrounding septal defects helps better understanding of mechanism of the aneurysm formation. Abstract P1465 Figure.

scholarly journals Severe Pulmonary Valvular Stenosis and Balloon Pulmonary Valvuloplasty (BPV): A Case Report

2015 ◽  
Vol 3 (1-2) ◽  
pp. 53-58
Author(s):  
Tahera Nazrin ◽  
CM Shaheen Kabir ◽  
Sahela Nasrin ◽  
Md Rokonujjaman ◽  
M Maksumul Huq ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Excellent Result ◽  
Pulmonary Stenosis ◽  
Pulmonary Valve Stenosis ◽  
Short Term ◽  
Valvular Stenosis ◽  
Congenital Cyanotic Heart Disease

Congenital pulmonary valve stenosis is a common congenital heart disease andIsolated pulmonary valve stenosis comprises 8-10% of all congenital heart disease. It is an acyanotic heart disease,but can present with severe cyanosis if it is associated with patent foramen ovale (PFO). Severe pulmonary stenosis with cyanosis can be misdiagnosed clinically. Proper evaluation and modern technique of treatment modality can save a life easily. We report a 5 years old boy with severe pulmonary valvular stenosis with PFO who was clinically misdiagnosed as a case of congenital cyanotic heart disease (Tetralogy of Fallot). After taking proper history, clinical examination and investigations we treated the baby by balloon pulmonary valvuloplasty (BPV) successfully without any complication. The short term (6 months) outcome of BPV showed excellent result. Ibrahim Cardiac Med J 2013; 3(1&2): 53-58

Congenital Heart Disease in Adults

2017 ◽  
Author(s):  
Susan E. Haynes ◽  
Heather L. Bartlett ◽  
David J Skorton ◽  
Luke J Lamers
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Vena Cava ◽  
Congenital Diseases ◽  
Septal Defects ◽  
Atrial Septal Defects ◽  
Repaired Tetralogy Of Fallot

With advances in medical and surgical care, an increasing number of children with congenital diseases of the heart and vasculature now survive to adulthood. The proportion of adults who are affected by congenital heart disease is expected to continue to increase. Thus, it is important for clinicians to be knowledgeable about the care of these patients. This review examines acyanotic disorders (shunts and valvular lesions), vascular anomalies, cyanotic disorders, and women’s health issues. Figures show the anatomy of atrial septal defects, transcatheter closure of atrial septal defects, an anatomic cross section showing the atrioventricular septum, the anatomic positions of ventricular septal defects, a computed tomography scan of aortic coarctation, angiogram of a persistent left superior vena cava draining into the right atrium, systemic artery-to-pulmonary artery shunts, magnetic resonance image of a patient with repaired tetralogy of Fallot and long-standing pulmonary valve insufficiency, treatment of pulmonary valve regurgitation with a transcatheter pulmonary valve, computed tomographic images of a patient with atrial switch palliation of transposition of the great arteries and multiple baffle obstructions, stages in the repair of functional single ventricles, and echocardiograms of a patient with Ebstein anomaly. Tables list recommendations for pulmonary valve replacement in repaired tetralogy of Fallot, conditions in which pregnancy is high risk, and cardiac indications for fetal echocardiography. This review contains 12 highly rendered figures, 4 tables, and 62 references.

scholarly journals Adult Congenital Heart Disease Investigated with Cardiac Catheterization Over A 20-Year Period

2009 ◽  
Vol 3 (1) ◽  
pp. 124-127 ◽  
Author(s):  
George D Giannoglou ◽  
Antonios P Antoniadis ◽  
Yiannis S Chatzizisis ◽  
George E Louridas
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Cardiac Catheterization ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Adult Congenital Heart Disease ◽  
Pulmonary Valve Stenosis ◽  
Adult Congenital

Background: Recent advances in diagnosis and treatment have increased the life expectancy of patients with congenital heart disease. Methods: To investigate the prevalence of adult congenital heart disease (ACHD) in a large registry of patients over a 20-year period, we retrospectively assessed data of 14,012 males and 4,461 females who underwent clinically indicated cardiac catheterization from 1984 to 2003. Results: ACHD was recorded in 234 subjects aged from 18 to 66 years, [95 males (40.7%) and 139 females (59.3%)]. Females were more likely to present with ACHD than males (p<0.001). Atrial septal defect was the most common defect (43.3%) followed by partial anomalous pulmonary venous return (12.0%), pulmonary valve stenosis (11.3%) ventricular septal defect (8.0%), coarctation of aorta (5.5%) patent ductus arteriosus (4.0%) and Fallot’s tetralogy (3.3%). Atrial septal defect was more common in females (p<0.01), while pulmonary valve stenosis was more frequent in males (p<0.05). No difference across sexes was found in the other forms of ACHD. Females with ACHD were significantly older than males at the time of catheterization (median age 41 years, interquartile range 26 to 53 years vs. median age 35 years, interquartile range 22 to 48 years, p<0.05). Conclusions: In adulthood ACHD is found more commonly in females and is diagnosed later in life than in males. Atrial septal defect is the most prevalent form of ACHD and occurs most commonly in females.

scholarly journals The diagnosis and treatment of pulmonary valve stenosis in children

2015 ◽  
Vol 6 (6) ◽  
pp. 1-5 ◽  
Author(s):  
Shiv Kumar Yadav
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Recent Progress ◽  
Pulmonary Valve ◽  
Diagnosis And Treatment ◽  
Pulmonary Valve Stenosis ◽  
Medical Sciences ◽  
Percutaneous Balloon ◽  
First Choice

Pulmonary valve stenosis (PS) is a common congenital heart disease, its early diagnosis and treatment can improve growth and prognosis in children with pulmonary valve stenosis. With the development of the diagnostics and treatment, percutaneous balloon pulmonary valvuloplasty (PBPV) has replaced surgery as the first choice for isolated pulmonary valve stenosis. The article reviews the recent progress in diagnosis and treatment of pulmonary valve stenosis.DOI: http://dx.doi.org/10.3126/ajms.v6i6.12017Asian Journal of Medical Sciences Vol.6(6) 2015 1-5 

scholarly journals Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 675 ◽  
Author(s):  
Pinna ◽  
Daniele ◽  
Calcagni ◽  
Mariniello ◽  
Criscione ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Neurofibromatosis Type 1 ◽  
Odds Ratio ◽  
Congenital Heart ◽  
Pulmonary Valve ◽  
Neurofibromatosis Type ◽  
Study Cohort ◽  
Pulmonary Valve Stenosis

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (p = 0.038) or pulmonary valve stenosis (98/459, 21.4%) (p = 0.002). Similarly, patients with non-truncating NF1 mutations displayed two- and six-fold higher risk of developing CHD (odds ratio = 1.9713, 95% confidence interval (CI): 1.1162–3.4814, p = 0.0193) and pulmonary valve stenosis (odds ratio = 6.8411, 95% CI: 2.6574–17.6114, p = 0.0001), respectively. Noteworthy, all but one patient (19/20, 95.0%) with pulmonary valve stenosis, and 18/35 (51.4%) patients with other CHDs displayed Noonan syndrome (NS)-like features. Present data confirm the significant frequency of CHD in patients with NF1, and provide further evidence for a higher than expected prevalence of NF1 in-frame variants and NS-like characteristics in NF1 patients with CHD, particularly with pulmonary valve stenosis.

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