Anemia in the pediatric patient
Certain Conotruncal Defects Require Chromosome Deletion Syndrome Screening
March 06, 2012
1 min read
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Cardiology 2012
Patients with certain conotruncal cardiac defects should be screened in the prenatal/neonatal period for chromosome 22q11.2 deletion syndrome, a relatively common genetic disorder, new data suggest.
Researchers at The Children's Hospital of Philadelphia screened 1,613 patients with a variety of conotruncal defects for presence of 22q11.2 deletion (22q11del) syndrome. Conotruncal defects found included tetralogy of Fallot (n=619), ventricular septal defects (n=364), transposition of the great arteries (n=306), double outlet right ventricle (n=138), truncus arteriosus (n=93) and interrupted aortic arch type A and B (n=91).
A 22q11del syndrome was found in 13% of patients with tetralogy of Fallot, in 35% of patients with truncus arteriosus, in 5% with conoventricular septal defects and in 56% with interrupted aortic arch type B. Presence of an arch anomaly increased the risk for 22q11del syndrome; however, this is still commonly seen in patients with a normal aortic arch, the researchers said. The chromosome deletion syndrome was not seen in patients with double outlet right ventricle or transposition of the great arteries, except with the presence of an arch anomaly.
Screening in the prenatal/neonatal period for a 22q11del syndrome is warranted in patients with tetralogy of Fallot, truncus arteriosus, conoventricular septal defects and interrupted aortic arch type B. Patients with double outlet right ventricle and transposition of the great arteries should only be screened when an arch anomaly or other syndrome features are also present. Those with interrupted aortic arch type A and a left arch appear to be at minimal risk for 22q11del syndrome, the researchers concluded.
"We hope that these results will lead to earlier detection of patients that have this deletion syndrome, which will then create opportunities for early intervention for some of the extra cardiac anomalies that we see later in life, such as learning disabilities, developmental delays and psychiatric disturbances," Shabnam Peyvandi, MD, cardiology fellow in the division of cardiology at The Children's Hospital in Philadelphia, told Cardiology Today. – by Casey Murphy
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Disclosure: Dr. Peyvandi reports no relevant financial disclosures.
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DiGeorge Syndrome: Causes, Symptoms, And Treatment
DiGeorge syndrome is a chromosomal disorder that typically affects the 22nd chromosome. This condition can affect many organ systems and cause various medical issues, ranging from a heart defect to behavioral problems and a cleft palate.
The condition is also known as 22q11.2 deletion syndrome. Around 90% of people with the condition have a small deletion on the 22nd chromosome at the q11.2 location.
This deletion is now known to be responsible for several previously named syndromes, which now all fall under the name 22q11.2 deletion syndrome.
Other names include velocardiofacial syndrome, conotruncal anomaly face syndrome, Shprintzen syndrome, and CATCH22.
Doctors and researchers think DiGeorge syndrome affects around 1 in 4,000 to 6,000 people. However, the features of the syndrome vary widely, and as a result, doctors may misdiagnose or underdiagnose it.
Fast facts on DiGeorge syndromeHere are some key points about DiGeorge syndrome.
DiGeorge syndrome results from the deletion of the 22q11.2 segment in one of the two copies of chromosome 22. It affects approximately 30 to 40 genes.
Many of these genes are not yet fully understood.
The syndrome usually starts as a random event de novo, or during fertilization, either on the maternal or paternal side, but it may also occur during fetal development.
DiGeorge syndrome is not typically inherited, and there is rarely a family history of the condition.
However, around 10% of people with the syndrome have inherited the deletion from a parent.
The Immune Deficiency Foundation (IDF) states that the syndrome can involve a wide range of signs and symptoms. According to the National Health Service (NHS) in the United Kingdom, if a child has DiGeorge syndrome, parents or caregivers may notice:
Due to the significant variability of DiGeorge syndrome, the type and severity of symptoms are typically determined by the organ system affected.
Doctors typically diagnose DiGeorge syndrome with a blood test called a FISH analysis (Fluorescence In Situ Hybridization).
A healthcare professional is likely to request a FISH analysis if a child has symptoms that may indicate DiGeorge syndrome or if there are signs of a heart defect. DiGeorge syndrome has strong associations with certain types of heart problems.
Treatment of DiGeorge syndrome depends on the organ systems involved. It can involve a wide range of health professionals.
DiGeorge syndrome causes various conditions that require different types of treatment.
Hypoparathyroidism
Treatment for hypoparathyroidism includes supplementation with vitamin D, calcium, and parathyroid hormone.
Limited thymus gland function
If the thymus gland is not functioning correctly, it affects the immune system's ability to fight infection, leading to frequent mild or moderate infections. Supplement recommendations and vaccine scheduling is usually the same as for children without the condition. The immune function usually becomes stronger as the child gets older.
Severe thymus dysfunction
This poses a risk of severe infection and may require surgery. Thymus tissue transplantation, bone marrow transplant, stem cell transplant, or transplant of disease-fighting blood cells may be necessary.
Other treatments
Other treatments to address specific symptoms include:
Currently, there is no cure for DiGeorge syndrome. It is a lifelong condition. The outlook depends on the organ system affected and the severity of the condition.
However, according to the NHS, some of the issues tend to improve with age. Most people can expect to live as long as people without the condition, but they may continue to experience ongoing health issues. Adults with the condition can often live independently.
As with most medical conditions, early diagnosis and treatment are essential. It is also important to attend all medical appointments, as ongoing monitoring can help an individual maintain good health.
Anyone concerned about the risk of DiGeorge syndrome should speak with their doctor or another healthcare professional.
What Is 22q Syndrome? #HeyJustin Trends As Man With Disorder ... - Newsweek
A Massachusetts-based content creator and activist was the focus of a Twitter trending topic on Monday. The trend was in relation to a video he released raising awareness of his syndrome while calling on users of the site to say hello and share his hashtag.
Boston resident Justin Gigliotti, who uses the handle @syndrome22q1, received a wave of support from users of the social network after uploading the short 29-second clip to his profile that was seeking "hellos from millions of people from around the world."
The term #HeyJustin became a trending topic and had been used over 18,000 times as of Tuesday morning. His tweet attracted over 13,000 responses.
Gigliotti explained in the video upload that he had a disability called 22q syndrome and he was "curious" to see how many people would respond to his request. He added: It would make my day... It would make my heart happy, it would make me happy."
Gigliotti, who is also known on his accounts as Justin G, has repeatedly used the profile for similar social campaigns over the past month, promoting hashtags centered around his name and tagging profiles to signal-boost his account and raise awareness.
The Mayo Clinic, a Minnesota-based healthcare and research nonprofit, explains that the condition is called 22q11.2 deletion syndrome, or DiGeorge syndrome.
The disorder is caused when a part of the human chromosome 22 is missing and usually occurs "as a random event" in fetal development, or in human sperm or eggs.
The syndrome can lead to a variety of medical problems, including "heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems."
Gigliotti YouTube's account, which does not appear to have been active in the past year, has gained about 58,000 views since being launched in 2016, analytics show.
The profile contains videos discussing the syndrome, which he calls 22q, and uploads have sought the attention of comedian and talk show host Ellen DeGeneres.
DeGeneres replied to one of Gigliotti's posts in 2019 after he called for people to send Christmas wishes with the hashtag #MerryChristmasJustin.
In a video in February 2017, Gigliotti said he endured multiple heart surgeries relating to his syndrome, but that would not get in the way of his life ambitions.
He stated: "If you have a disability or if you have a syndrome that shouldn't stop you from doing what you want to do, whether it's making videos or having that awesome job. For me, having 22q syndrome is not going to stop me from making music, that is not going to stop me from putting videos up on YouTube. It's not going to stop me."
Justin G tweeted on March 1, 2021: "I have a disability which is called 22q Syndrome. Even tho I am different I am curious to see how many people watching this will say hello to... Justin G tweeted on March 1, 2021: "I have a disability which is called 22q Syndrome. Even tho I am different I am curious to see how many people watching this will say hello to me using the hashtag #HeyJustin id love to get hellos from millions of people from around the world." More Screenshot/@syndrome22q1
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