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Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus

Author: Dimopoulos et al. - Circulation (2023)

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, pre

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Acrocyanosis

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is acrocyanosis? Acrocyanosis is the bluish discoloration of the extremities (usually the hands and/or feet) due to decreased oxygen being delivered to those areas. The small blood vessels in the

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Low Heart Rate and Blood Pressure

Author: Brian Chicoine, MD - "Ask Dr. Chicoine" LuMind IDSC Foundation

Blood pressure and heart rates/pulses that are on the lower end of normal or even a little lower than normal are common findings in people with Down syndrome (see this article on hypertension

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My ECG/EKG

Author: Adult Down Syndrome Center

This visual explains what happens when you get an ECG or EKG.

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Testicular Cancer

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

While many solid tumor cancers are  less  common in people with Down syndrome compared to people without Down syndrome, testicular cancer is one type of solid tumor cancer that is&am

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When Veins Don't Work

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is the vascular system? Our vascular system includes blood vessels (including veins, arteries, and smaller blood vessels) as well as the heart. Arteries carry blood away from the heart towards th

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Breast Cancer and Breast Cancer Screening for Women with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Breast cancer screening recommendations have varied over time and continue to vary. Organizations have different recommendations for when women should start being screened for breast cancer and how of

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Dysgerminomas in Women with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We received a request for information on dysgerminomas in women with Down syndrome. Dysgerminomas are germ cell tumors that typically occur in the ovary. Testicular cancer is the comparable cancer in

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Heart Disease in Adults with Down Syndrome Between 1996 and 2016

Author: Fitzpatrick et al. - Journal of the American Board of Family Medicine (2020)

Abstract Purpose:  To describe demographic factors and calculate prevalence of heart disease-related conditions among the adult Down syndrome (DS) sample population and to compare demographic

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Prostate Cancer Screening in Men with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Should men with Down syndrome (DS) undergo prostate specific antigen (PSA) blood testing for prostate cancer screening? The United States Preventive Services Task Force (USPSTF) recommends the followi

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Cancer Screening in Adults with Down Syndrome: A Proposal

Author: Rethore et al. - European Journal of Medical Genetics (2019)

Abstract Background : The specific distribution of cancers in Down syndrome (DS) calls into question the validity of screening policies for cancer surveillance as implemented for the general populatio

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Benefits and Harms of Mammography Screening for Women with Down Syndrome

Author: Alagoz et al. - Journal of General Internal Medicine (2019)

Abstract Background:  Women with Down syndrome have a lower breast cancer risk and significantly lower life expectancies than women without Down syndrome. Therefore, it is not clear whether m

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Vasovagal Syncope (Fainting)

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

What is vasovagal syncope?  Vasovagal syncope is what we commonly think of as fainting in response to emotional upset or pain. Chen-Scarabelli and Scarabelli (2004) define it as “a

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The Pattern of Malignancies in Down Syndrome and Its Potential Context with the Immune System

Author: Satge & Seidel - Frontiers in Immunology (2018)

Abstract The immune surveillance theory of cancer posits that the body's immune system detects and destroys randomly occurring malignant cells. This theory is based on the observation of the i

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Colon Cancer Screening for People with Down Syndrome

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Is colon cancer screening recommended for people with Down syndrome? Please note that this handout discusses screening colonoscopies (i.e. colonoscopies performed to identify pre-symptomatic or unreco

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Use of Aspirin to Prevent Heart Attacks

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We were sent a question about the use of aspirin to prevent heart attacks in people with Down syndrome. We have provided some information below. Please note that this information is for educational pu

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Mammograms

Author: Sravanthi Paritala, MD - Family Medicine Resident, Advocate Lutheran General Hospital

What is a mammogram? A mammogram is a special type of x-ray that looks for breast cancer, which is the most common cancer among women. The United States Preventive Services Task Force (USPSTF) recomme

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Low Risk of Solid Tumors in Persons with Down Syndrome

Author: Hasle et al. - Genetics in Medicine (2016)

Abstract Purpose:  The aim of this study was to investigate cancer incidence in a large cohort of persons with Down syndrome.  Methods:  Down syndrome was identified from th

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Breast Cancer Screening for Women with Down Syndrome

Author: Chicoine et al. - Intellectual and Developmental Disabilities (2015)

Abstract This study examined mammogram reports of women with Down syndrome (DS) treated in the largest medical facility specifically serving adults with DS in the United States. Records of 684 women a

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Down Syndrome, Wolff-Parkinson-White Syndrome, and Bicuspid Aortic Valve

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

We were sent a question about Down syndrome and Wolff-Parkinson-White (WPW) syndrome and Bicuspid Aortic Valve. WPW is a heart condition in which there is an extra electrical pathway in the heart. The

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Down Syndrome and Heart Disease

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

If a 45-year-old man presents to the emergency room with chest pain, what is the big concern? Coronary ischemia (low blood flow to the heart muscle) and possibly myocardial infarction (heart attack).

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Hypertension and Hypotension

Author: Brian Chicoine, MD - Medical Director, Adult Down Syndrome Center

Hypertension (high blood pressure) is a major health problem – except not for people with Down syndrome. There has recently been much discussion about reducing the salt consumption of the Un

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Please note: The information on this site is for educational purposes only and is not intended to serve as a substitute for a medical, psychiatric, mental health, or behavioral evaluation, diagnosis, or treatment plan by a qualified professional. We recommend you review the educational material with your health providers regarding the specifics of your health care needs.

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