Understanding Congenital Heart Defects: A Comprehensive Guide for Parents

Understanding Congenital Heart Defects: A Comprehensive Guide for Parents

As parents, we strive to provide the best possible care and support to our children. The news of your child being diagnosed with a congenital heart defect (CHD) can be daunting. However, you are not alone, and your child's medical team is dedicated to providing the best care possible.

Disclaimer: This blog post is written by a parent and is intended to provide a basic understanding of congenital heart defects. It is not fully comprehensive, and every child's situation may be different. We encourage parents to meet with and engage in discussions with their child's pediatric cardiology team for personalized care plans.

Congenital Heart Defects: An Overview

CHDs are the most common birth defects in the United States, affecting about 1% of—or about 40,000—births per year. Here is a non-exhaustive list of different types of congenital heart defects, along with an approximate number of children born each year in the US with each condition and their typical treatments.

  1. Ventricular Septal Defect (VSD): This is the most common CHD, affecting about 12,000 newborns per year. It involves a hole in the wall separating the two lower chambers of the heart. Most VSDs close on their own, but some require surgical closure.

  1. Atrial Septal Defect (ASD): ASD affects nearly 5,000 newborns each year. It is a hole in the wall between the heart's upper chambers. Depending on the size and location of the defect, treatment may involve a cardiac catheter procedure or surgery.

  1. Patent Ductus Arteriosus (PDA): Affecting approximately 8,000 newborns annually, PDA is a persistent opening between two major blood vessels leading from the heart. It can be treated with medication, catheter based procedures, or surgery.
  1. Tetralogy of Fallot (TOF): TOF affects about 1,600 newborns annually. It's a combination of four defects, including VSD and narrowing of the path to the lungs (pulmonary stenosis). Treatment involves corrective surgery, usually performed in the first year of life.
  1. Transposition of the Great Arteries (TGA): Affecting approximately 1,250 babies each year, TGA is a condition where the two main arteries leaving the heart are reversed. Treatment involves a procedure called an arterial switch operation, usually performed in the first week of life.
  1. Coarctation of the Aorta (CoA): Affecting about 1,600 newborns each year, this is a narrowing of the aorta, the large blood vessel that branches off your heart and delivers oxygen rich blood to your body. Treatment includes balloon angioplasty, stenting, or surgical repair.
  1. Hypoplastic Left Heart Syndrome (HLHS): Occurring in about 960 infants each year, this is a complex and severe congenital heart defect in which the left side of the heart is severely underdeveloped. Treatment includes a series of surgeries or, in some cases, heart transplantation.
  1. Tricuspid Atresia: This condition, affecting approximately 300 newborns annually, involves a missing or abnormally developed tricuspid valve, blocking blood flow to the lungs. Treatment is usually a series of surgeries to improve blood flow and oxygen supply.
  1. Double Outlet Right Ventricle (DORV): DORV, affecting about 400 newborns each year, is a condition where both the aorta and the pulmonary artery are connected to the right ventricle. It is one of the forms of single ventricle function.  The treatment plan usually includes surgery to reroute the blood flow appropriately.
  1. Pulmonary Atresia (PA): PA is a condition of the pulmonary valve, impacting around 200 newborns annually. There are various forms of this defect, and treatments typically involve surgery or catheterization procedures.
  1. Dextrocardia: Affecting approximately 1 in 12,000 people, dextrocardia is a condition where the heart points toward the right side of the chest instead of the left. If it occurs alone, without other heart defects, treatment might not be necessary. However, it often occurs with other defects that require treatment.
  1. Double Inlet Left Ventricle (DILV): Affecting a few hundred newborns each year, DILV is a condition where both arteries arise from the same ventricle (usually the left). It is one of the forms of single ventricle function.  Treatment involves a series of surgeries to reroute blood flow.
  1. Heterotaxy: Affecting approximately 1 in 10,000 newborns each year, heterotaxy is a complex disorder that involves heart defects of varying types and anomalies of other organs. Treatment is dependent on the specific constellation of defects and often involves multiple surgeries.

Several genetic syndromes are associated with CHDs, including Down syndrome (trisomy 21), Turner syndrome, Marfan syndrome, DiGeorge syndrome (22q11.2 deletion syndrome), Williams syndrome, and others. However, it's important to remember that not every child with these syndromes will have a CHD, and not every child with a CHD will have a genetic syndrome. As always, for individualized information about your child's health, consult their pediatric cardiology team.

Congenital heart defects (CHDs) are classified as "severe" or "complex" based on several factors, including the defect's impact on the child's health, the need for surgical intervention, and the potential for long term complications.

Severe or complex CHDs typically involve significant abnormalities (or often several defects) in the structure of the heart that disrupt normal blood flow. This disruption can mean that not enough blood reaches the body (causing cyanosis, or a bluish tint to the skin, lips, and fingernails), that blood is not properly oxygenated, or that the heart is forced to work much harder than normal. The condition may also affect the child's growth and development.

Severe or complex CHDs often require one or more surgeries or interventional procedures, and they often necessitate lifelong medical care. Despite treatment, these defects may still lead to significant health problems, such as heart failure, arrhythmias (irregular heart rhythms), and other complications.

CHDs that are typically classified as severe or complex include:

  •  Hypoplastic Left Heart Syndrome (HLHS)
  •  Tetralogy of Fallot (TOF)
  •  Transposition of the Great Arteries (TGA)
  •  Truncus Arteriosus
  •  Total Anomalous Pulmonary Venous Return (TAPVR)
  •  Double Inlet Left Ventricle (DILV)
  •  Tricuspid Atresia
  •  Pulmonary Atresia
  •  Complex forms of Single Ventricle Defects
  •  Heterotaxy, particularly when associated with complex heart defects

Keep in mind, however, that every child's situation is unique. The severity of a defect can vary widely from child to child, even within the same type of defect. The specific details of a defect, the presence of other health problems, and the child's overall health all contribute to the seriousness of the condition.

It's also worth noting that advances in medical and surgical care have greatly improved outcomes for children with these serious conditions. Many children with severe or complex CHDs now grow to adulthood and can lead full and productive lives. As always, consult your child's pediatric cardiology team for personalized information.

Medical Terminology

Navigating the world of congenital heart defects can be confusing, so here are some terms and medications that might come up during your journey:

  1. Pulse Ox: This refers to pulse oximetry, a test that measures the oxygen level (oxygen saturation) of the blood. It is an easy, painless measure of how well oxygen is being sent to parts of the body furthest from the heart, such as the arms and legs.  In a medical setting, this is often referred to as “sats”  short for “saturation levels”.  I remember calling these “stats”, which is a medical term we hear more often as laypeople 😀
  1. Lasix (Furosemide): This is a diuretic ("water pill") that helps your body get rid of excess water and salt through urine. It's often used to treat symptoms of heart failure in CHD or to remove excess fluids following heart surgery.  It is available in both a liquid and pill form.
  1. Sildenafil: Used to treat pulmonary arterial hypertension, a condition of high blood pressure in the arteries of the lungs. It works by relaxing and widening blood vessels so blood can flow more easily.  More recently, this medication has also been used to increase exercise tolerance in children with single ventricle function.
  1. ACE inhibitors: Medicines used to treat heart conditions by relaxing blood vessels and reducing the load on the heart.
  1. Prostaglandin: This medication is used to keep the ductus arteriosus (a blood vessel that allows blood to go around the baby's lungs before birth) open for a longer period. It's typically used in newborns with certain types of CHDs until surgery can be performed.

Other body systems that may be impacted by congenital heart defects include the lungs, brain, kidneys, and the growth and development system and we will dive into this in a future post.

Walk Alongside Them on this CHD Journey

As a parent, it's essential to remember that the development of a congenital heart defect in your baby was not your fault. Most congenital heart defects occur due to complex genetic and environmental factors that are beyond anyone's control.

Remember, it's normal to feel overwhelmed. But rest assured, your child's medical team is equipped with the knowledge and skills to navigate this journey with you. Take one step at a time, ask questions, and seek support when you need it. Your love and advocacy are the most significant assets for your child's health.  

Final reminder - you are not alone.  Other parents have been on this journey and have advice to offer (some helpful, and some not so much).  No two experiences are the same, so remember, take what serves and leave the rest.  Here is what I wish someone would have told me early on in our experience.