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Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus
Konstantinos Dimopoulos1,2, Andrew Constantine1,2, Paul Clift3
1Adult Congenital Heart Centre and Centre for Pulmonary Hypertension, Royal Brompton Hospital, Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom (K.D., A.C.).
Insights
Individuals with Down syndrome face significant cardiovascular risks, primarily from congenital heart disease. Addressing these risks and care disparities is crucial for improving health outcomes.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Cardiovascular disease (CVD) is a major cause of illness and death in people with Down syndrome.
- Congenital heart disease (CHD) affects up to 50% of this population, leading to adverse outcomes.
- Other contributing factors include pulmonary hypertension, related diseases, and atherosclerosis risk.
Purpose of the Study:
- To review the diagnosis, prevalence, and management of CVD in individuals with Down syndrome.
- To summarize evidence across 10 key areas, from prenatal diagnosis to care disparities.
- To highlight the need for awareness of best clinical practices among clinicians.
Main Methods:
- Literature review focusing on Down syndrome and cardiac disease.
- Synthesis of evidence across diverse clinical aspects.
- Analysis of disparities in cardiovascular care.
Main Results:
- Congenital heart disease is highly prevalent and impacts outcomes.
- Pulmonary hypertension and other comorbidities exacerbate CVD risks.
- Significant disparities exist in cardiovascular care, often overlooked.
Conclusions:
- Awareness of CVD risks and management is essential for Down syndrome patients.
- Addressing care disparities is critical for improving mortality rates.
- Clinicians require updated knowledge on best practices for this population.
Abstract:
Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributing to poor outcomes. Additional factors contributing to cardiovascular outcomes include pulmonary hypertension; coexistent pulmonary, endocrine, and metabolic diseases; and risk factors for atherosclerotic disease. Moreover, disparities in the cardiovascular care of people with Down syndrome compared with the general population, which vary across different geographies and health care systems, further contribute to cardiovascular mortality; this issue is often overlooked by the wider medical community. This review focuses on the diagnosis, prevalence, and management of cardiovascular disease encountered in people with Down syndrome and summarizes available evidence in 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to disparities in care in areas of differing resource availability. All specialists and nonspecialist clinicians providing care for people with Down syndrome should be aware of best clinical practice in all aspects of care of this distinct population.
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An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...

