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As part of my role as a paediatric and fetal cardiologist I see pregnant women in our fetal cardiology clinics in GOSH and the combined fetal medicine and fetal cardiology clinic at UCLH.

The advancement in scanning technology means that many congenital heart problems or fetal heart rate and rhythm issues, are picked up before the baby is born.

 

NORMAL FETAL HEART AT 20 WEEKS

Normal views of Aortic arch in 20 week fetus

 

In some cases we screen mothers in whom there is a known risk factor that puts their baby at an increased risk of a congenital heart defect, these include a family history of congenital heart disease, certain maternal diseases such as diabetes or certain connective tissue diseases. In addition findings on routine scanning and combined screening testing early in pregnancy may suggest an increased risk of congenital heart disease.

I understand it can be very worrying and distressing to be told there may be something wrong with your baby’s heart. Fetal cardiology provides expert evaluation and diagnosis of fetal heart defects. With explanation of and counseling about all treatment options. It then allows careful planning for your baby’s delivery. The parents can avail of a range of support services to help support the family before and after the baby’s delivery.

The optimal timing for fetal echocardiography is 18-20 weeks gestation. Sometimes if the fetus is in a good position, adequate images can be obtained earlier.

Normal fetal echocardiogram at 16 weeks gestation

 

NORMAL 4 CHAMBER HEART AT 16 WEEKS

 

NORMAL AORTIC ARCH 16 WEEKS

An atrioventricular septal defect or AVSD is a combination of several associated lesions that are affected in the development of the valves between the top chambers (atria) and bottom chambers (ventricles) that result in a large defect in the centre of the heart. Also known as an endocardial cushion defect, the condition is congenital, which means it is present at birth, and occurs in two out of every 10,000 newborns. There is a strong association between this defect and the chromosomal abnormality, Down Syndrome.
When the heart is properly septated, red oxygenated blood from the lungs does not mix with the blue deoxygenated blood from the body. In an AVSD blood can move and mix freely among the four heart chambers. If left untreated, AVSD can cause inefficient blood flow through the heart and ultimately to

AVSD is not a single defect but rather a group of closely-associated defects in various combinations and with varying degrees of severity:
-Atrial component (communication between the top chambers)
-Ventricular component (communication between the lower chambers)
-AV valve (mitral and tricuspid) abnormality, failure of normal separation into 2 distinct particioed valves that separate the upper heart chambers (atria) from the lower chambers (ventricles), often resulting in one large “common” valve sitting over both right and left chambers.

How do we treat AVSDs
All of the AVSD subtypes, usually require surgery. The surgery, involves closure of any holes in the chambers, using patches. If the left sided AV valve does not close completely, it is repaired to make it more competent. The surgeon repairs the the common valve, separating it into two distinct valves – one on the right side and one on the left side.

The age at which surgery is dependent on clinical factors such as the child’s health and growth as well as the specific structure of the AVSD.  Ideally, surgery should be done before there is permanent damage to the lungs from too much blood being pumped to the lungs. Medication may be used to treat congestive heart failure, but it is only a short term measure in an attempt to allow the infant become bigger and strong enough for surgery.

Infants who have surgical repairs for AVSD generally remain under lifelong follow up. Some of the defects can be more complicated and there is a discrepancy in size between the 2 valves and the lower chambers, this is termed an unbalanced AVSD and can be more challenging to treat. Each AVSD is individual and the medical and surgical management are tailored to the defect. In some instances, children can require more than one operation. The most common need for reintervention is for complications of a leaky left AV valve. A child or adult with an AVSD will need regular follow-up visits with a cardiologist to monitor his or her progress, avoid complications, and check for other health conditions that might develop as the child gets older. With proper treatment, most babies with AVSD grow up to lead healthy, productive lives.

Although the symptom of chest pain in your child can set off alarm bells in most parents, studies have shown in contrast to adults, the overwhelming majority of cases of chest pain in otherwise healthy children have a noncardiac aetiology. Numerous previous studies in multiple practice settings have demonstrated a cardiac aetiology in only 0-5% of children and adolescents presenting with chest pain.

True cardiac chest pain is rare in a teenager or child. A detailed clinical history of the nature, type and frequency of the pain can often help a padiatric cardiologist stratify whether the pain has an underlying cardiac cause. In the vast majority, a careful focused history and physical examination, along with a screening tests such as an ECG, will identify essentially all patients with a serious cardiac condition.

A 12 lead ECG (or electrocardiogram) is a valuable initial investiugation. This test involves placing 12 stickers or electrodes on the chest and analysing how the electrical impulses spread through the heart. The presence of other symptoms such as palpitations (an irregular or fast heart rate) or a history of syncope or collapse would prompt more detailed investigation and assessment. A positive family history of cardiac problems or history of early / unexplained death would also be a reason for further investigations.