scholarly journals Esquirol-Séguin-Down Syndrome Associated with Atrial Septal Defect plus Tricuspid Regurgitation

2022 ◽  
Vol 4 (1) ◽  
pp. 01-05
Author(s):  
Aamir Jalal Al-Mosawi
Keyword(s):  
Down Syndrome ◽  
Atrial Septal Defect ◽  
Tricuspid Regurgitation ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Facial Features ◽  
Nasal Bridge ◽  
Cardiac Defects ◽  
First Case ◽  
British Physician

Background: Esquirol-Séguin-Down syndrome (Trisomy 21) was first described by Jean-Etienne Dominique Esquirol in 1838 and later by Edouard Séguin in 1846. Thereafter, in 1862, John Langdon Down, a British physician emphasized that the syndrome is a distinct form of mental retardation. Congenital cardiac defects are observed in more than one third of the patients with Esquirol-Séguin-Down syndrome, and in approximately 80% these cardiac defects are atrioventricular septal defect or ventricular septal defect with the former being more common. The association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation has been rarely reported. The aim of this paper is to report the rare association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation. Patients and methods: Two and half years old boy with Esquirol-Séguin-Down syndrome, developmental delay and abnormal echocardiography was studied, and the recent relevant literatures were reviewed. Results: Dysmorphic facial features included hypertelorism, oblique palpebral fissures, epicanthic folds, depressed nasal bridge and low set ears. Echocardiography showed atrial septal defect with tricuspid regurgitation. Conclusion: This paper reports the first case of Esquirol-Séguin-Down syndrome in Iraq associated with atrial septal defect plus tricuspid regurgitation.

Surgical Strategy in Patients with Atrial Septal Defect and Severe Pulmonary Hypertension

2012 ◽  
Vol 15 (2) ◽  
pp. 111 ◽  
Author(s):  
Yang Hyun Cho ◽  
Tae-Gook Jun ◽  
Ji-Hyuk Yang ◽  
Pyo Won Park ◽  
June Huh ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Atrial Septal Defect ◽  
Tricuspid Regurgitation ◽  
Septal Defect ◽  
Maze Procedure ◽  
Severe Pulmonary Hypertension ◽  
Tricuspid Annuloplasty ◽  
Pulmonary Arterial ◽  
Asd Closure

The aim of the study was to review our experience with atrial septal defect (ASD) closure with a fenestrated patch in patients with severe pulmonary hypertension. Between July 2004 and February 2009, 16 patients with isolated ASD underwent closure with a fenestrated patch. All patients had a secundum type ASD and severe pulmonary hypertension. Patients ranged in age from 6 to 57 years (mean � SD, 34.9 � 13.5 years). The follow-up period was 9 to 59 months (mean, 34.5 � 13.1 months). The ranges of preoperative systolic and pulmonary arterial pressures were 63 to 119 mm Hg (mean, 83.8 � 13.9 mm Hg) and 37 to 77 mm Hg (mean, 51.1 � 10.1 mm Hg). The ranges of preoperative values for the ratio of the pulmonary flow to the systemic flow and for pulmonary arterial resistance were 1.1 to 2.7 (mean, 1.95 � 0.5) and 3.9 to 16.7 Wood units (mean, 9.8 � 2.9 Wood units), respectively. There was no early or late mortality. Tricuspid annuloplasty was performed in 14 patients (87.5%). The peak tricuspid regurgitation gradient and the ratio of the systolic pulmonary artery pressure to the systemic arterial pressure were decreased in all patients. The New York Heart Association class and the grade of tricuspid regurgitation were improved in 13 patients (81.2%) and 15 patients (93.7%), respectively. ASD closure in patients with severe pulmonary hypertension can be performed safely if we create fenestration. Tricuspid annuloplasty and a Cox maze procedure may improve the clinical result. Close observation and follow-up will be needed to validate the long-term benefits.

Clinical and echocardiographic assessment of a right-to-left shunt across an atrial septal defect secondary to tricuspid regurgitation

2001 ◽  
Vol 56 (4) ◽  
pp. 233-237 ◽  
Author(s):  
Miroslaw KOWALSKI ◽  
Piotr HOFFMAN ◽  
Hanna SIUDALSKA ◽  
Ewa JABUKOWSKA ◽  
Wanda RYDLEWSKA-SADOWSKA
Keyword(s):  
Atrial Septal Defect ◽  
Tricuspid Regurgitation ◽  
Septal Defect ◽  
Echocardiographic Assessment

Characteristics of the pulmonary circulation in infants with complete atrioventricular septal defect

2020 ◽  
pp. 1-6
Author(s):  
Hirohito Doi ◽  
Jun Muneuchi ◽  
Mamie Watanabe ◽  
Yuichiro Sugitani ◽  
Ryohei Matsuoka ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Gestational Age ◽  
Pulmonary Circulation ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Left Heart ◽  
Complete Atrioventricular Septal Defect ◽  
Pulmonary Arterial ◽  
Heart Lesions ◽  
Complete Atrioventricular

Abstract Objective: Infants with complete atrioventricular septal defect occasionally accompany pulmonary hypertension; however, the pulmonary circulation can be altered by pulmonary vascular conditions as well as the left heart lesions. This study aimed to explore whether the left heart lesions were related to the pulmonary circulation among them. Methods: We performed echocardiography and cardiac catheterisation in 42 infants with complete atrioventricular septal defect and studied relationships between the pulmonary haemodynamic parameters and the left heart morphology. Results: Age and weight at preoperative evaluation were 65 days (47-114) (the median following interquartile range) and 5.5 kg (4.0-7.1), respectively. There were 27 individuals with Down syndrome. Gestational age was 38 weeks (37-39). Catheterisation showed mean pulmonary arterial pressure: 36 (29-46) mmHg, the ratio of pulmonary to systemic blood flow: 3.45 (2.79-4.98), pulmonary vascular resistance: 2.20 Wood units·m2 (1.53-3.65), and pulmonary arterial compliance: 2.78 (1.86-4.10) ml/Hg/m2. Echocardiography showed the Rastelli classification type A in 28 and type C in 14, moderate or severe left atrioventricular valve regurgitation in 19 patients (45%), atrioventricular valve index of 0.67 (0.56-0.79), left ventricular end-diastolic volume z score of 4.46 (1.96-7.78), and aortic valve diameter z score of −0.70 (−1.91 to 0.20). Multivariable regression analysis revealed that preoperative pulmonary vascular resistance was significantly correlated to gestational age (p = 0.002), and that preoperative pulmonary arterial compliance was significantly correlated to gestational age (p = 0.009) and Down syndrome (p = 0.036). Conclusions: The pulmonary circulation does not depend upon the presence of left heart lesions but gestational age and Down syndrome in infants with complete atrioventricular septal defect.

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

scholarly journals Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection

Genes ◽  
2018 ◽  
Vol 9 (4) ◽  
pp. 208 ◽  
Author(s):  
Xiaoyong Pan ◽  
Xiaohua Hu ◽  
Yu Zhang ◽  
Kaiyan Feng ◽  
Shao Wang ◽  
...  
Keyword(s):  
Neural Networks ◽  
Feature Selection ◽  
Down Syndrome ◽  
Septal Defect ◽  
Atrioventricular Septal Defect
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