Covid-19: what it means if you have heart or circulatory disease
Turner Syndrome
OverviewTurner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.
Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.
SymptomsSigns and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.
Before birthTurner syndrome may be suspected prenatally based on prenatal cell-free DNA screening -- a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother -- or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:
Signs of Turner syndrome at birth or during infancy may include:
The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:
Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation.
CausesMost people are born with two sex chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent. In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed.
The genetic changes of Turner syndrome may be one of the following:
The missing or changed X chromosome of Turner syndrome causes problems during fetal development and other developmental problems after birth -- for example, short stature, ovarian insufficiency and heart defects. Physical characteristics and health complications that arise from these chromosomal issues vary greatly.
Risk factorsThe loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development.
Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.
ComplicationsTurner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur include:
If, based on signs and symptoms, the doctor suspects that your child has Turner syndrome, a lab test will be done to analyze your child's chromosomes. The test involves a blood sample. Occasionally, your doctor may also request a cheek scraping (buccal smear) or skin sample. The chromosome analysis determines whether or not there is a missing X chromosome or a change in one of the X chromosomes.
Prenatal diagnosisA diagnosis is sometimes made during fetal development. Certain features on an ultrasound image may raise suspicion that your baby has Turner syndrome or another genetic condition affecting development in the womb.
Prenatal screening tests that evaluate the baby's DNA in the mother's blood (prenatal cell-free fetal DNA screening or noninvasive prenatal screening) may also indicate an increased risk of Turner syndrome. However, doing a karyotype during pregnancy or after delivery is recommended to confirm the diagnosis.
If Turner syndrome is suspected before birth (prenatally), your pregnancy and childbirth specialist (obstetrician) may ask if you're interested in additional tests to make a diagnosis before your baby is born. One of two procedures can be performed to test prenatally for Turner syndrome:
Discuss the benefits and risks of prenatal testing with your doctor.
TreatmentBecause symptoms and complications vary, treatments are tailored to address the individual's specific problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early.
The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies:
Other treatments are tailored to address particular problems as needed. Regular checkups have shown substantial improvements in the health and quality of life for girls and women with Turner syndrome.
It's important to help your child prepare for the transition from care with your pediatrician to adult medical and mental health care. A primary care doctor can help to continue coordination of care among a number of specialists throughout life.
Health care teamBecause Turner syndrome can result in developmental concerns and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care.
Teams may evolve as needs change throughout life. Care team specialists may include some or all of these professionals, and others as needed:
Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. So it's important to discuss reproductive goals with your health care provider.
Some women with Turner syndrome can become pregnant with the donation of an egg or embryo. A reproductive endocrinologist can discuss options and help evaluate the chances of success.
In most cases, females with Turner syndrome have high-risk pregnancies. It's important to discuss those risks before pregnancy with a high-risk obstetrician -- a specialist in maternal-fetal medicine who focuses on high-risk pregnancies -- or a reproductive endocrinologist.
Coping and supportThe Turner Syndrome Society of the United States and other organizations provide educational materials, resources for families and information about support groups. Groups for parents provide an opportunity to exchange ideas, develop coping strategies and locate resources.
Peer groups for girls with Turner syndrome can help reinforce self-esteem and provide a social network of people who understand how to live with Turner syndrome.
Preparing for an appointmentHow you learn your child has Turner syndrome may vary.
It's important to take your child to all regularly scheduled well-baby visits and annual appointments throughout childhood. These visits are an opportunity for the doctor to take height measurements, note delays in expected growth and identify other problems in physical development.
The doctor may ask questions such as:
If your family doctor or pediatrician believes that your child shows signs or symptoms of Turner syndrome and suggests diagnostic tests, you may want to ask these questions:
©2023 Mayo Foundation for Medical Education and Research (MRMER). All rights reserved.
Exercise Kept Family History Of Heart Disease At Bay – Until ...
Because Jana Turner's parents and all four grandparents had died of heart disease, she stayed lean, ate a healthy diet and remained active.
Jana Turner had always enjoyed a sense of control over her life. She never married or had children. Her career in commercial real estate remained her top priority, culminating in a rise to becoming a partner in her company.
She also took control of her health. Because her parents and all four grandparents had died of heart disease, she stayed lean, ate a healthy diet and remained active. For decades, she regularly golfed, biked, hiked and lifted weights. She'd also been taking medication to control her cholesterol.
In May 2020, Turner – then 65 – began experiencing chest pain while walking around her neighborhood. She sat on the curb for 15 minutes trying to catch her breath. She wondered if she was having a heart attack.
Turner's primary care doctor said an electrocardiogram showed no signs of trouble. He prescribed her medication for a digestive issue. Weeks later, the symptoms persisted. So she saw a gastroenterologist. A small ulcer was discovered. More symptoms led her to see a different gastroenterologist. He prescribed nitroglycerin and urged her to see a cardiologist.
The cardiologist ordered a nuclear stress test. The next morning, he broke the news: She had at least one blockage in her heart arteries.
Further tests to get a closer look inside her heart uncovered she had a greater than 99% blockage in her main coronary artery and significant blockage in another. She would need open-heart surgery for a double bypass.
"With a 99% blockage, you have no wiggle room," said Dr. Anne-Marie Feyrer-Melk, a preventive cardiologist who now treats Turner. "When those type of plaques get hot and rupture, you're just a heartbeat away from a heart attack."
Turner wanted a second opinion. She sobbed when her then-cardiologist told her there was no time for that. Adding to her worries, the hospital had implemented protocols during the COVID-19 pandemic, so she wouldn't be able to have visitors. "I had nobody to advocate for me or to help make decisions," she said.
The surgery went well. Six days later, Turner went home. She opted to conduct her own cardiac rehab program, walking up and down stairs and taking long walks around her neighborhood.
"My recovery was easy-breezy," she said.
According to Feyrer-Melk, Turner's lifelong exercise regimen helped her to recover so quickly. "Physically fit people are used to deep breathing and cleaning their lungs out with every breath and with exercise, so they tend to recover from surgery much easier," she said. "If she hadn't been working out in a gym for 45 years, she probably would have had either a heart attack or bypass surgery decades earlier."
About a year later, Turner moved. She made an appointment with a local cardiologist. Once again, she failed a stress test. Her bypass had failed, blocking the flow of blood.
In bypass surgery, a vein is taken from another part of the body and grafted onto arteries that feed the heart. In most cases, the vein will adapt to its new location. However, in up to 40% of cases, the vein can thicken and obstruct blood flow.
"That was the first time I felt like I was going to die," she said. "I couldn't get my arms around this." Her cardiologist was more optimistic. This blockage was less severe. Also, it didn't require another invasive bypass operation; it could be cleared with a stent placed during a non-invasive procedure.
Back to full health, Turner looks back to the origin of her problems and feels angry that it took so long to get a correct diagnosis, especially given her family history. She wants others to learn from her experience. "Don't ignore your symptoms," she said. "If you suspect something is wrong with your heart, it's important to push to see a cardiologist. It could save your life."
The ordeal also scraped away Turner's sense of control over her life. She's struggled with anxiety. She feels more nervous than she did in the past. She worries about the occasional flutter in her chest.
She also finds herself more emotional. She recently became misty-eyed when telling a group of friends how much she appreciated them. And tears flowed when her boyfriend, Robert, left Scottsdale to return to Canada, where he lives for part of the year. The tears were uncharacteristic – as is the use of the term "boyfriend," something she avoided even when in other relationships; the use of the term now amuses her friends.
Eager to reduce her stress, she has lessened her workload. She also splurged on a new home, trading a modest condo for a spacious house.
"I call it my big girl house, and I'm crazy about it," she said. "This experience has given me the freedom to live for today."
Turner Syndrome News, Research And Latest Updates
Keep abreast with the latest news related to Turner Syndrome there are 132 news items on Turner Syndrome that covers updates, breakthroughs and in-depth reports.We provide you with a free downloadable secure widget for your website to carry news related to Turner Syndrome.
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