Epidemiology And Syndromes In Congenital Heart Diseases

Epidemiology of Congenital Heart Diseases (CHDs) 

0.8% of all live births (0.8–1%) have it. The incidence is higher in premature children (about 2% excluding PDA), stillborn babies (3-4%), and spontaneous abortion users (10–25%). In 40–50% of patients with CHD, the diagnosis is made within one week of birth, and in 50–60% of cases, it is made within one month. Siblings are about three times more likely to experience a recurrence when one child is impacted, at approximately 3%.

Status In India

With a birth frequency of congenital heart disease of 9/1000, India is thought to produce more than 200,000 children each year with congenital heart disease. Of them, approximately one-fifth are probably going to have significant problems that need to be fixed during the first year of life. 

The majority of congenital heart disease cases in India are found in the northern region, which includes Jammu and Kashmir, Himachal Pradesh, Punjab, Haryana, Uttar Pradesh, Rajasthan, and Delhi. The eastern region, which includes North Eastern states, West Bengal, Sikkim, Bihar, and Orissa, follows this region. In western and southern India, the percentage is lower.

Common Congenital Heart Diseases

Most prevalent cardiac congenital abnormalities the aortic bicuspid valve. According to Nelson, between 1 and 2% of adults globally have it. The most prevalent cardiac condition is a ventricular septal defect, accounting for 35–40% of all lesions; atrial septal defects account for 6–8% of all lesions. These are the most prevalent heart illnesses if transitional factors, or common conditions that can cause symptoms, are ruled out.

However, if the question relates to the most common congenital cardiac lesion, it may or may not be associated with a disease and may or may not cause symptoms. The bicuspid aortic valve will provide an answer to that query. VSD is the most prevalent structural congenital heart condition. Over 30 to 35 percent of all structural congenital cardiac disorders have it.

Etiology 

This condition's etiology is multifactorial, meaning that there are several contributing factors rather than just one. Among these several reasons could be:

Genetic disorders

• Genealogical influences.
  • The impact of environmental exposure (high-altitude dwellers).
  • Teratogens, which are pregnant women who use drugs, particularly in the first trimester.
  • A number of pollutants, including smoking, have an impact.
  • Nutritional elements such as a lack of folate.
  • Different cardiac problems are also caused by maternal systemic illnesses.
  • Idiopathic factors 

Teratogenic Drugs Associated With Congenital Heart Diseases

• Lithium: If a youngster takes lithium, they may develop Ebstein's abnormality.
  • Retinoic acid: If a youngster takes this medication, they may have congenital abnormalities.
  • Amphetamines: If a woman takes this medication, she may develop PDA, VSD, ASD, or ECD.
  • Anticonvulsants: all of these medications carry some risk, but phenytoin users in particular run the risk of developing septal defects, CoA, and pulmonary stenosis.
  • The child may experience the development of heart abnormalities such as VSD, ASD, PDA, TGA, and CoA if the mother is using valproate.
  • The infant may potentially exhibit several forms of congenital heart problems if the mother uses ACE inhibitors.

Toxin Associated With Congenital Heart Diseases

Nelson stated that it's unclear how smoking relates to the poisons involved. If a risk already exists, it becomes more significant.
Alcohol's role: Drinking alcohol can result in fetal alcohol syndrome as well as symptoms including PDA, ASD, and VSD in a patient.

Maternal Conditions Associated With Congenital Heart Distribution

Maternal Diabetes

Fetal insulinemia can result from maternal hyperglycemia in cases where the mother has uncontrolled diabetes. Numerous forms of congenital cardiac disease can result from elevated insulin levels in the developing fetus. Hard illnesses with a structural component (VSD, ASD, TOF, TGA) can result from maternal diabetes.Idiopathic subaortic stenosis is another name for hypertrophic cardiomyopathy. This is a temporary myopathy that goes away in six to twelve months. 
Another risk factor is maternal SLE (systemic lupus erythematosus) or mixed connective tissue disease, both of which are autoimmune diseases. There is a significant chance that a baby will be born with congenital heart block if the mother has these autoimmune disorders. Septal abnormalities and TGA are most likely to develop in a mother who has maternal phenylketonuria.

Genetic Syndrome Associated With Congenital Heart Disease Aneuploidies 

1. Trisomy 21 (Down syndrome)

Individuals with Down syndrome are more susceptible to congenital cardiac illness. Between 40 and 50 percent of Down syndrome patients have it. 

Q.1. What is the most common congenital heart disease in Down syndrome? 

Endocardial cushion defect, also known as complete atrioventricular canal defect, is followed by VSD, followed by ASD. 

2. Trisomy 18

Another name for this is Edward syndrome. In such a case, the likelihood of getting congenital heart disease is more than 90%.

Q.1. What is the most common congenital heart disease in Edward syndrome?

The most common congenital heart disease in Edward syndrome is VSD, followed by ASD. 

3. Trisomy 13

It is also known as Patau syndrome. 

Q.1.What is the most common congenital heart disease in Patau syndrome?

The most common congenital heart disease in Patau syndrome is VSD, followed by ASD.

4. Turner's syndrome (45, XO)

Q.1. What is the most common congenital heart disease inTurner's syndrome?

The most common congenital heart disease in Turner's syndrome is Bicuspid Aortic Valve > CoA > AS > other congenital heart diseases.

Also Read: Chest X-ray In Pediatric Cardiology

Other Genetic Syndromes That Are Associated With Congenital Heart Disease

Visual Spotter

A photograph can be used to ask one to spot which patient has congenital heart disease. The face of the person having congenital heart disease might look like the one given below.

Features of the syndrome include:

• Concavity or depression in the upper nasal bridge.
• Thick bushy eyebrows meeting in the midline of the upturning tip of the nose. 
• Smooth and wide philtrum.
• Thin lips.
• Depression of the angle of mouth when the patient tries to speak. 

A 22q11.2 deletion affects more than 90% of DiGeorge syndrome patients. On the short arm of chromosome 10 (10p13), a second genetic locus has also been found. Individuals who have 10p deletions are more likely to develop sensory neural hearing loss, or SNHL. 

Also Read: Rapid Acquisition Of Key Concepts Cardiovascular

Jacobsen Syndrome

The Paris-Trousseau defect, a unique bleeding anomaly, is the hallmark of this condition. Under these circumstances, there is a reduction or absence of Alpha granules in the platelet. 

Genetic Basis: 

• JAM3 gene on 11q23. 

Most Common CHDs: 

• Hypoplastic Left Heart Syndrome. 

• Visual spotter: Rubinstein-Taybi syndrome is characterized by abnormally thick and broad thumbs and toes.

Non-syndromic Genetic Causes Of Congenital Heart Diseases

Q.1. Which is the most common cardiac anomaly in DiGeorge Syndrome? 

Interrupted aortic arch 

• The most common cardiac anomaly in DiGeorge syndrome is interrupted aortic arch syndrome. 

Q.2. Which is the most common CHD in a child with Ellis Van Crevald Syndrome? 

Single atrium 

• The most common CHD in a child with Ellis van Crevald syndrome is a single atrium. 

Q.3. A syndrome which is categorized as a microdeletion syndrome, shows increased risk of CHDs like PDA, but with normal immune status and normal calcium metabolism is? 

Rubinstein-Taybi syndrome 

• A syndrome which is categorised as a microdeletion syndrome shows an increased risk of congenital heart diseases like PDA but with normal immune status and normal calcium metabolism is Rubinstein-Taybi Syndrome. 

Q.4. Most common cardiac defect in Alagille syndrome is? 

Peripheral PS 

• The most common cardiac defect in Alagille syndrome is peripheral PS. 

Q.5. Most common cardiac defect in Williams syndrome is?

Supravalvular AS 

• The most common cardiac defect in Williams syndrome is supra valvular AS.

Hope you found this blog helpful for your NEET SS Pediatrics Cardiology preparation. For more informative and interesting posts like these, keep reading PrepLadder’s blogs.