72 Morbidity and Mortality Associated with Congenital Heart Disease in Adults with Trisomy 21 (T21)

AbstractCongenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in only ~20% of cases using widely adopted genetic tests. Furthermore, cost of care for children and adults with CHD has increased dramatically. Rapid whole genome sequencing (rWGS) of newborns in intensive care units with suspected genetic diseases has been associated with increased rate of diagnosis and a net reduction in cost of care. In this study, we explored whether the clinical utility of rWGS extends to critically ill infants with structural CHD through a retrospective review of rWGS study data obtained from inpatient infants < 1 year with structural CHD at a regional children’s hospital. rWGS diagnosed genetic disease in 46% of the enrolled infants. Moreover, genetic disease was identified five times more frequently with rWGS than microarray ± gene panel testing in 21 of these infants (rWGS diagnosed 43% versus 10% with microarray ± gene panels, p = 0.02). Molecular diagnoses ranged from syndromes affecting multiple organ systems to disorders limited to the cardiovascular system. The average daily hospital spending was lower in the time period post blood collection for rWGS compared to prior (p = 0.003) and further decreased after rWGS results (p = 0.000). The cost was not prohibitive to rWGS implementation in the care of this cohort of infants. rWGS provided timely actionable information that impacted care and there was evidence of decreased hospital spending around rWGS implementation.

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Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome

Congenital Heart Disease ◽

10.1111/chd.12521 ◽

2017 ◽

Vol 12 (6) ◽

pp. 820-827 ◽

Cited By ~ 12

Author(s):

Raysa Morales-Demori

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Turner Syndrome ◽

Trisomy 21 ◽

Congenital Heart ◽

Procedural Outcomes

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Performance of the “GUCH morbidity and mortality scores” in cyanotic and non-cyanotic adults with congenital heart disease

Archives of Cardiovascular Diseases Supplements ◽

10.1016/j.acvdsp.2019.06.015 ◽

2019 ◽

Vol 11 (4) ◽

pp. e387

Author(s):

Sarah Cohen ◽

Sébastien Hascoet ◽

Jürgen Hörer ◽

Régine Roussin ◽

Emre Belli

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Morbidity And Mortality

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Congenital heart disease in trisomy 21 mosaicism

The Journal of Pediatrics ◽

10.1016/s0022-3476(05)83460-2 ◽

1993 ◽

Vol 122 (3) ◽

pp. 500-501 ◽

Cited By ~ 2

Author(s):

Bruno Marino ◽

Andrea de Zorzi

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Trisomy 21 ◽

Congenital Heart

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Evaluation of Complications of Heart Surgery in Children With Congenital Heart Disease at Dena Hospital of Shiraz

Global Journal of Health Science ◽

10.5539/gjhs.v8n5p33 ◽

2015 ◽

Vol 8 (5) ◽

pp. 33 ◽

Cited By ~ 2

Author(s):

Maryam Mirzaei ◽

Samaneh Mirzaei ◽

Elham Sepahvand ◽

Afifeh Rahmanian Koshkaki ◽

Marzieh Kargar Jahromi

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Heart Surgery ◽

Open Heart Surgery ◽

Vascular Complications ◽

Congenital Heart Surgery ◽

Morbidity And Mortality ◽

High Morbidity ◽

Cross Sectional

INTRODUCTION: Today, with progress in the field of congenital heart surgery, different complicated actions are done in children. These actions may be associated with several complications, especially open heart surgery in which the cardiopulmonary bypass (CPB) is used. Serious complications can be caused high morbidity and mortality rates. Present study has been performed to determine the incidence of morbidity and mortality in cardiac surgery in children. METHOD: In a cross-sectional retrospective, records of 203 patients undergoing surgery for congenital heart disease in Dena hospital during 2013-2015 were reviewed for incidence of complications. Data was analyzed by using descriptive and analytical statistics and using SPSS version 18. RESULTS: The mean age of samples was 3/65±4/47 years. The majority of samples (73/8%) were undergoing open surgery. The overall adverse cardiovascular complications were respectively, renal complications (44/3%), lung (40/3%), anemia (35/9%), heart (34/4%), gastrointestinal (17/2%), brain (14/2%), need for re-intubation of the trachea 11/3%), infection (7/8%) required reoperation (5/9%) and vascular complications (1/4%). CONCLUSION: High incidence of complications after congenital heart surgery makes necessary attention to complications and their treatment after surgery. It is necessary to apply the measures and careful monitoring of patients to minimize these effects.

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