scholarly journals Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis

2015 ◽  
Vol 42 (5) ◽  
pp. 458-461 ◽  
Author(s):  
Guruprasad Mahadevaiah ◽  
Manoj Gupta ◽  
Ravi Ashwath
Keyword(s):  
Down Syndrome ◽  
Hypertrophic Cardiomyopathy ◽  
Pulmonary Vein ◽  
Septal Defect ◽  
Gene Mutations ◽  
Atrioventricular Septal Defect ◽  
Pulmonary Vein Stenosis ◽  
Specific Gene ◽  
Vein Stenosis ◽  
Complete Atrioventricular

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome—an apparently unique combination. In addition, we discuss the relevant medical literature.

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.

Complete atrioventricular septal defect, Down syndrome, and surgical outcome: risk factors

2003 ◽  
Vol 75 (2) ◽  
pp. 412-421 ◽  
Author(s):  
Amira A Al-Hay ◽  
Stephanie J MacNeill ◽  
Magdi Yacoub ◽  
Darryl F Shore ◽  
Elliot A Shinebourne
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Surgical Outcome ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Complete Atrioventricular Septal Defect ◽  
Complete Atrioventricular

Congenital Pulmonary Vein Stenosis with Anomalous Pulmonary Venous Connection

2007 ◽  
Vol 15 (5) ◽  
pp. 438-440 ◽  
Author(s):  
Shin Takabayashi ◽  
Hideto Shimpo ◽  
Kazuto Yokoyama ◽  
Masaki Kajimoto ◽  
Koji Onoda
Keyword(s):  
Pulmonary Vein ◽  
Septal Defect ◽  
Superior Vena ◽  
Vena Cava ◽  
Pulmonary Vein Stenosis ◽  
The Right ◽  
Vein Stenosis ◽  
Anomalous Pulmonary Venous Connection ◽  
Right Lower Lobectomy ◽  
Congenital Pulmonary Vein Stenosis

An 11-month-old boy with congenital pulmonary vein stenosis, partial anomalous pulmonary venous connection, and ventricular septal defect is described. Angiocardiography demonstrated stenosis between the right upper pulmonary vein and high superior vena cava and obstruction of the right lower pulmonary vein. For pulmonary vein stenosis, we performed transverse sutured plasty for the right upper pulmonary vein, followed by right lower lobectomy. In some patients, combined management for pulmonary vein stenosis is effective.

Repair of Complete Atrioventricular Septal Defect in Infants with Down Syndrome: Outcomes and Long-Term Results

2014 ◽  
Vol 36 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Margarita R. Tumanyan ◽  
Olga V. Filaretova ◽  
Vera V. Chechneva ◽  
Ruben S. Gulasaryan ◽  
Iuliia V. Butrim ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Septal Defect ◽  
Atrioventricular Septal Defect ◽  
Long Term Results ◽  
Complete Atrioventricular Septal Defect ◽  
Complete Atrioventricular
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