The Link Between Congenital Heart Block and Autoimmune Disease

Congenital Heart Block (CHB) is a rare but serious condition that occurs more frequently in newborns born to mothers with autoimmune disease. Image courtesy of Insider.com.

What is Congenital Heart Block?

According to the National Organization for Rare Disease, Congenital Heart Block, or CHB for short, is the interference of the transfer of electric nerve impulses that regulate the pumping of the heart muscle.

As long as electrical impulses are transmitted normally between the heart’s chambers – the atria and the ventricles – the heart contracts normally, allowing for blood to be pumped throughout the body. If the transmission of the signal is impeded, the blocked electrical transmission is known as heart block, or atrioventricular (AV) block.

Though heart block can happen to anyone of any age, it is called congenital heart block if it occurs in a fetus or newborn up to 28 days old.

Why Does CHB Occur in Children Born to Women with Autoimmune Disease?

Autoimmune-associated CHB has been found in a variety of maternal autoimmune disorders, including Sjogren’s syndrome, systemic lupus erythematosus, rheumatoid arthritis, antiphospholipid syndrome (APS), mixed connective tissue disorders, and undifferentiated connective tissue disease.

It is believed that CHB may result when maternal antibodies cross the placenta, enter the fetus, and attack the fetal cardiac conduction system. The antibodies that were originally produced by the mother’s body to fight infections mistakenly recognize parts of the fetal heart’s conduction system as foreign; for this reason, the immune system attacks and damages the tissues, resulting in inflammation and scarring, which in turn leads to faulty conduction. 

What Is the Risk of Congenital Heart Block if I Have an Autoimmune Disease?

A 2017 study conducted by Chinese medical professionals Kai-Yu Zhou and Yi-Min Hua of the West China Second University Hospital, Department of Pediatric Cardiology, revealed that more than half of CHB cases (between 60 and 90%) are associated with maternal autoimmune disease.

Among the general population, CHB occurs in 1 out of every 20,000 live births – an incidence of only 0.00005%. The study found that autoimmune-associated CHB, however, occurs at much more frequent rates, affecting between 2–5% pregnancies with positive anti-Ro/SSA and La/SSB antibodies. The study also found that when a woman had a child with CHB, the recurrence rate of CHB was 12–25% for a subsequent pregnancy.

Mortality Rate & Treatment for Congenital Heart Block

The perinatal mortality rate of a newborn with CHB is up to 30%, and even higher in the presence of endocardial fibroelastosis (EFE) or dilated cardiomyopathy (DCM), which are other potential complications associated with CHB.

If CHB is detected in utero by a fetal electrocardiography (ECG) and echocardiography, your OB/GYN may prescribe an adrenocorticosteroid such as dexamethasone, which works to decrease inflammation and the number of circulating maternal antibodies in the fetus.

Once born, other studies have shown that between that 64 and 70% of CHB survivors require surgery to permanently implant a pacemaker, a medical device which stimulates the heart to contract so that it can pump blood.

How to Prevent Congenital Heart Block

A 2016 report by the American College of Rheumatology states that there are no official guidelines about the prevention, screening, and treatment of CHB due to maternal Ro antibodies.

However, in the same report, it was stated that in a survey of 330 women with autoimmune conditions, 67% were told by their rheumatologists to use hydroxychloroquine (also known as Plaquenil) to prevent CHB. In addition, 62% were told to start the drug prior to pregnancy, in order to prevent the condition from developing.

Another study published in The Journal of the American College of Cardiology stated that hydroxychloroquine reduces the recurrence of CHB below the historical rate by more than 50%, further demonstrating the promise of this drug in the prevention of CHB.

Have you or someone you love been affected by congenital heart block (CHB)? Let us know in the comments below!

Autoimmune Disease on the Rise in the United States

An April 2020 study published in Arthritis and Rheumatology suggests that autoimmune disease is on the rise in the United States.

In the study, researchers found that the prevalence of the most common biomarkers of autoimmune disease, called antinuclear antibodies (ANAs), is significantly increasing in the U.S. overall as well as among certain populations. These affected populations include:

  • Men
  • Non-Hispanic whites
  • Adolescents
  • Adults 50 year and older

The researchers examined over 14,000 patients ages 12 and up over the course of three time periods spanning 30 years. In this time frame, they discovered that the overall frequency of ANAs in their test subjects went from 11% affected individuals to almost 16% affected. The worst affected population was the adolescent group, who experienced a nearly three-fold increase in ANA rates over the course of the study period.

While the exact cause of autoimmune disease remains unknown, many scientists believe that a combination of genetic and environmental factors is responsible. However, the researchers in the study state that because people have not changed much genetically over the past 30 years, it is more likely that lifestyle or environmental factors are responsible for the ANA increases.

Christine Parks, PhD, is one of the researchers involved in the study who focuses on the environmental causes of rheumatoid arthritis (RA) and other autoimmune diseases. “These new findings…will help us design studies to better understand why some people develop autoimmune diseases,” she said. She also added that there are over 100 chronic, debilitating autoimmune conditions that could stand to benefit from further research.

Donna Jackson Nakazawa, a Maryland-based science journalist and author of the book The Autoimmune Epidemic, believes that our ever-increasing exposure to chemicals, heavy metals, and viruses, coupled with stress, dietary and other lifestyle factors, is primarily to blame for the increase in autoimmune disease. She also points out that there may be a connection between autoimmune disease and allergies, which are also skyrocketing.

Nakazawa herself suffers from Guillain-Barre Syndrome, a paralyzing autoimmune disease similar to multiple sclerosis (MS). In her latest book, The Last Best Cure, she states that experts predict that the number of Americans who suffer from chronic conditions will rise an astonishing 37% by 2030.

While this may not sound like positive news, one good thing is that with an increase in autoimmune disease, more scientists, medical professionals and pharmaceutical companies will be encouraged to undertake research to find treatments and, ultimately, a cure for autoimmunity. I personally am hopeful that we will see enormous strides in biotechnology in my lifetime.

Are you surprised by the increase in autoimmune disease in the U.S.? Let us know in the comments below!

Critical Autoimmune Treatment Becomes Scarce as Trump Touts Possible COVID-19 Benefits

A health care professional holds up Plaquenil, which is being explored as an experimental treatment for COVID-19 (Photo credit: The New York Post).

Last week, I stopped by the pharmacy to pick up my prescriptions – a normal occurrence for any autoimmune disease patient. As I waited in line, a heard a young woman ask for Plaquenil, an anti-malaria drug commonly used to treat autoimmune conditions such as lupus, rheumatoid arthritis (RA), and Sjogren’s Syndrome.

Unfortunately, the pharmacist responded that they were completely out of Plaquenil, and they weren’t sure when they were going to have the medication in stock again. The patient, looking upset, left the pharmacy empty-handed.

It’s no surprise that Plaquenil, and its generic counterpart, Hydroxychloroquine, is in short supply. During recent press conferences, President Trump claimed that the drug had potential to treat those suffering from COVID-19, the disease caused by the novel coronavirus. He was swiftly contradicted by his top infectious diseases adviser, Dr. Anthony Fauci, who said that the evidence that the drug was helpful for the virus was anecdotal at best.

Despite the experimental nature of the drug for treating COVID-19, this hasn’t stopped people from trying to stockpile the drug. In fact, a recent New York Times article stated that pharmacy boards have discovered that doctors are hoarding the medication by writing prescriptions for themselves and their family members. The situation is especially dire in the states of Idaho, Kentucky, Ohio, Nevada, Oklahoma, North Carolina, and Texas.

The American Medical Association’s president, Dr. Patrice Harris, denounced the practice, saying that the association “is calling for a stop to any inappropriate prescription and ordering of medications…and appealing to physicians and all health care professionals to follow the highest standards of professionalism and ethics.”

As a result, a number of pharmaceutical boards have imposed restrictions, such as barring pharmacies from dispensing both chloroquine and hydroxychloroquine unless the prescription includes a written diagnosis of a condition that the drugs have been proven to treat. Other rules include limiting the prescription to a 14-day supply unless a patient has previously taken the medication.

Still, not every state’s board has taken action to ensure that the drug is made readily available to autoimmune disease patients. As a result, the Lupus Foundation of America, Arthritis Foundation, and other medical associations have issued a joint statement urging the White House to ensure access to the medication during the COVID-19 crisis, citing the fact that it is the only known drug shown to increase survival in patients with lupus.

For Sue Hauk, a 48-year-old lupus patient from Conshohocken, Pennsylvania, Plaquenil has been a lifesaver. Her main lupus symptoms include: joint pain, chest pain, fatigue, and nausea, which this medication helps to keep in check. When she first heard reports of the medication being scarce, she contacted her pharmacy to request a refill of her prescription, but they couldn’t offer her more than a five day supply. She then called seven different in-state pharmacies, and then five out-of-state pharmacies – each were either out of stock, or refused to fill her prescription since she wasn’t an existing customer.

“I thought, that can’t happen to me, because I’m on this and this is my life-sustaining drug. If I can’t find more, once it’s out of my system I don’t know what will happen,” Hauk said. “I’m at a loss right now.”

Sue Hauk, a lupus patient, is concerned that she won’t have access to her life-saving medication due to the COVID-19 pandemic (Photo credit: PBS).

There are over 1.5 million Americans living with the autoimmune disease lupus, who could be adversely impacted by the unnecessary stockpiling of this medication. While it’s funny to joke about people stockpiling items like toilet paper, hoarding medication has much more serious consequences.

Samantha Wayne, another lupus patient who has been taking the drug for the last 12 years, said in her YouTube video that hydroxychloroquine ensures that her symptoms don’t flare up and cause more inflammatory damage. She says it also prevents many patients from having to utilize more intensive therapies, such as immunosuppressant organ transplant drugs or chemotherapy. She also points out that this may be the only treatment deemed safe for use for pregnant autoimmune patients. She concludes the video stating that while she’s concerned about finding a way to combat the coronavirus, “those of us with autoimmune issues, such as lupus, we matter too.”

Samantha Wayne, a lupus patient and YouTuber, is raising awareness about the consequences of autoimmune patients not having access to hydroxychloroquine (Photo credit: Live Hope Lupus).

Cindy Messerle, CEO of the Lupus Foundation of America‘s Philadelphia Chapter, echoed those sentiments, saying, “I do hope that a treatment for COVID-19 is found ASAP. If it happens to be with hydroxychloroquine, the important thing is that people who take in on a daily basis for lupus and other autoimmune diseases have uninterrupted access to their medication.”

To read more about our coronavirus coverage, check out the following blog posts: