Genetic risk factor responsible for SCAD in women, research reports

A recent study has identified a common genetic factor which confers risk of atypical heart attacks in women. This study was published by teams from Leicester, UK and Paris, France in association with international partners from Australia and US.

They found that genetic factor located on chromosome 6 increases the risk of developing spontaneous coronary artery dissection (SCAD). This type of heart attack exclusively affects young to middle-aged women, as well as in some patients during pregnancy.

Spontaneous Coronary Artery Dissection is commonly known as SCAD. It is an emergency state which occurs due to tear formation in a blood vessel in the heart. It is a peculiar and atypical form of a heart attack which affects women in apparent good health.

Unlike a typical heart attack caused by a plaque rupture in the arteries, a SCAD heart attack occurs with a tear in the wall of an otherwise normal artery. The tear tunnels within the artery wall, and blocks the artery and blood flow to the heart muscles. Thus, leading to heart attack, heart rhythm irregularities, or sudden death.

Heart attacks are diagnosed with bloodwork and an electrocardiogram, but SCAD can be diagnosed only with an angiogram. It is an X-ray test which use special dye and a camera to take pictures of blood flow in the coronary arteries.

Symptoms include;

  • Chest pain or discomfort
  • Pain in the back, arms, neck, or jaw
  • Shortness of breath
  • Sweating, nausea, and lightheadedness

Findings of the study

Dr. David Adlam, an interventional cardiologist at Leicester’s Hospitals and Associate Professor at the University of Leicester, jointly lead the study. According to the scientist, a significant proportion of individuals with a SCAD heart attack also have aberrations in other arteries elsewhere in the body.

Recent researchers have found a genetic factor on chromosome 6 as being related to an increased risk of other problems like fibromuscular dysplasia. This disease makes cells to grow atypically in artery walls. It is a type of arterial anomaly very common in SCAD patients.

Researchers of the study investigated whether this factor was also linked to SCAD. And they found that the answer is yes. The allele A of the genetic variant rs9349379 located in the PHACTR1 gene (which is Phosphatase and actin regulator 1). It is also a risk factor for SCAD.

Fascinatingly, it also seems to give a protective effect from a typical heart attack, for which another allelic form of the same genetic variant (G) is already known to upsurge the risk in both women and men.

Another researcher Dr. Nabila Bouatia-Naji found an important feature of the A allele that it is common in the general population. And it confers a moderate risk increase of about 70%. This shows that many other genetic factors also contribute to genetic susceptibility to SCAD.

Helping SCAD patients

Like any disease which has environmental and genetic and factors that contribute to its development, SCAD must be investigated with a more holistic methodology to better comprehend it. And to discover different more appropriate methods to improve the management of patients affected.

Now, cardiovascular disease is the leading cause of death among women after breast cancer. Therefore, these atypical heart attacks must be known by the medical and scientific profession.

Though it is rare, current studies specify that it may, in fact, be responsible for up to one-third of acute heart attacks in women under the age of 60. The rate of heart attacks of these types is clearly underrated because the patients may not present with usual risk factors.

Also, an accurate diagnosis is complex. It requires sophisticated imaging procedures and clinical proficiency.

The research teams in Leicester and Paris have a common goal to work with international colleagues to launch a thorough genetic map of SCAD and to highlight the biological significances of the associated genetic factors. The ultimate aim is to be able to better recognize the cause and best treatment for this disorder.

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