The Mystery Behind Swiss Cheese Vsds

what causes swiss cheese vsd

Swiss cheese ventricular septal defect (SCVSD) is a rare and serious form of multiple ventricular septal defects (VSDs). VSDs are one of the most commonly recognised congenital heart defects, and can vary in location, size, and number. Muscular VSDs, which occur in 5-20% of cases, are the second most common type of VSD. When multiple muscular VSDs occur, they are known as Swiss cheese VSDs due to their appearance. The precise etiology of muscular VSDs is unknown, but they may be caused by a lack of merging in the walls of the trabecular septum or excessive resorption of muscular tissue during ventricular growth and remodelling.

Characteristics Values
Type of VSD Muscular Ventricular Septal Defect (VSD)
Commonality Second most common type of VSD, occurring in 5-20% of most series
Appearance Multiple holes giving the septum a "Swiss cheese" or spongy appearance
Cause Lack of merging in the walls of the trabecular septum or excessive resorption of muscular tissue during ventricular growth and remodelling
Treatment Surgical closure using a single patch with intermediate fixings, or a two-patch and right ventricle apex excluding technique
Diagnosis Echocardiography, electrocardiogram (ECG)-gated computed tomographic angiography (CTA), cardiac Magnetic Resonance Imaging (MRI)

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Muscular defects

Muscular Ventricular Septal Defect (VSD) is the second most common type of VSD, occurring in 5-20% of most series. Trabecular muscular VSDs are divided into separate distinct regional groups, including midmuscular, inlet, apical, anterior, and posterior. Midmuscular is the most common subtype of muscular VSD. Muscular defects may be single or multiple, are typically of midventricular to apical location, and are referred to as "Swiss cheese defects" due to their appearance.

The precise etiology of muscular septal defect formation is unknown. However, some proposed mechanisms include a lack of merging in the walls of the trabecular septum or excessive resorption of muscular tissue during ventricular growth and remodelling. When multiple muscular VSDs occur with a very large communication between the ventricles, it is known as "Swiss cheese" VSD. This is a rare and very serious form of multiple VSDs, defined as four or more muscular VSDs. Patients with "Swiss cheese" VSDs require surgical treatment in their early stages of life due to severe cardiac dysfunction.

The detection of "Swiss cheese" VSDs can be done through electrocardiogram (ECG)-gated computed tomographic angiography (CTA). This technique has been shown to be useful in detecting intracardiac shunts and preventing acute strokes secondary to a paradoxical embolus. However, it is not routinely used in clinical practice due to its technical difficulty and long procedure time.

Surgical closure of "Swiss cheese" VSDs can be achieved using a single patch with intermediate fixings. This technique aims to cover all portions of the trabecular septum with anticipated "Swiss cheese" defects. In some cases, a two-patch technique with right ventricle apex exclusion has been used, especially in infants, with favourable early and mid-term results. Long-term outcomes, however, need further evaluation.

Swiss Cheese Holes: Why Do They Exist?

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Ventricular septal defect (VSD)

When multiple muscular VSDs occur with a very large communication between the ventricles, it is known as "Swiss cheese" VSD. This is a rare and very serious form of multiple VSDs, defined as four or more muscular VSDs. The term "Swiss cheese ventricular septal defect" is also used when an individual patient has multiple ventricular septal defects.

The precise etiology of muscular septal defect formation is unknown, but there are several proposed mechanisms. Muscular defects may occur because of a lack of merging in the walls of the trabecular septum or because of excessive resorption of muscular tissue during ventricular growth and remodelling. Trabecular (muscular) ventricular septal defect (VSD) is the second most common type of VSD, occurring in 5-20% of most series. Midmuscular is the most common subtype of muscular VSD.

Patients with "Swiss cheese" VSDs always need surgical treatment in their very early stage after birth because of severe cardiac dysfunction. Surgical closure using a single patch with intermediate fixings has been used to treat "Swiss cheese" VSDs, but this technique has not been widely adopted due to its technical difficulty and long procedure time. More recently, a modified strategy using two fresh pericardium patches has been developed to treat "Swiss cheese" VSDs, with promising early and mid-term results.

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Intracardiac shunts

The two main categories of intracardiac shunts are cyanotic and acyanotic. Cyanotic shunts impair blood oxygenation by the pulmonary system and result in cyanosis. This type of shunt interrupts blood flow and oxygenation in the lungs, leading to lower oxygen saturation in the blood or a bluish tinge to the skin. In right-to-left shunts, oxygen-poor blood may flow directly back to the rest of the body without first passing through the lungs for oxygenation. Examples of cyanotic shunts include double outlet right ventricle and Eisenmenger syndrome.

Acyanotic shunts, on the other hand, do not impair lung blood flow, and the oxygenation process remains intact. In left-to-right shunts, blood that is already oxygenated leaks backward to the lungs. While this type of shunt does not affect the process of oxygenation in the lungs, it can still have significant implications. Examples of acyanotic shunts include atrial septal defect (ASD), atrioventricular septal defect, and ventricular septal defect (VSD).

The etiology of intracardiac shunt formation is multifactorial, influenced by both genetic and external factors. Genetic factors contributing to intracardiac shunts include chromosomal deletions, trisomies, and single-gene mutations. For instance, individuals with trisomy 21 or Down syndrome frequently exhibit cardiac anomalies. Maternal factors that increase the risk for intracardiac shunt formation include pregestational diabetes, marijuana use, rubella, ibuprofen use during pregnancy, and vitamin A exposure.

The management of intracardiac shunts depends on the specific disease type and can vary from simple clinical observation and medical therapy to surgical intervention. Early detection and prevention of adverse outcomes are crucial, with electrocardiogram (ECG)-gated computed tomographic angiography (CTA) being a promising tool for diagnosing intracardiac shunts and preventing catastrophic events such as strokes.

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Echocardiography

Ventricular septal defect (VSD) is a common congenital heart defect that can vary in location, size, and number. The interventricular septum is composed of a membranous septum and a muscular septum, and defects can be categorised based on their morphological origin. When a patient has multiple VSDs, the term "Swiss cheese ventricular septal defect" (SCVSD) is used. SCVSD is a serious and complex congenital heart disease defined by the presence of four or more muscular VSDs, often resulting in severe cardiac dysfunction.

Three-dimensional echocardiography is another advanced form of echocardiography that has been used to detect Swiss cheese-like atrial septal defects, a similar condition to SCVSD. This technique offers a more comprehensive evaluation of the heart's structures and can help identify multiple defects within the atrial septum.

In some cases, when echocardiography does not provide conclusive results, further diagnostic tests may be recommended. Cardiac magnetic resonance imaging (MRI) is often suggested after an inconclusive echocardiogram as it offers higher resolution and provides functional information about shunt severity. Additionally, in certain scenarios, ECG-gated computed tomography angiography (CTA) may be considered to assess for pulmonary embolism and atypical presentations of VSDs.

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Surgical closure

"Swiss cheese" ventricular septal defects (VSDs) are a serious congenital heart disease that can present with catastrophic stroke. The condition is characterised by multiple muscular VSDs, which give the septum a "Swiss cheese"-like or spongy appearance. This complex condition often results in early signs of congestive heart failure and requires careful management.

One surgical approach involves the use of a single large patch, typically made from autologous pericardial or polytetrafluoroethylene material, or a composite of Dacron lined with preserved heterologous pericardium. This patch is used to repair all VSDs, covering one or more portions of the trabecular septum. In some cases, additional pledget-supported sutures may be necessary to secure the patch and prevent septal bulging. This technique has been shown to be successful in closing the defects, with satisfactory short- and mid-term outcomes.

Another surgical technique that has been developed is the two-patch and right ventricular apex-exclusion technique. This method involves using two patches to close the defects in the outflow tract ventricular septal and apex trabecular ventricular septal regions, while also excluding the right ventricular apex from the right ventricular inflow tract. This approach has been used successfully in multiple patients, with encouraging mid-term follow-up results.

In addition to these techniques, other strategies such as device closure, re-endocardialization of the interventricular septum, and diverse surgical approaches have been explored. While there is no single consensus on the management of "Swiss cheese" VSDs, the development of these surgical techniques has provided promising options for treating this complex condition.

Frequently asked questions

Swiss Cheese VSD, or Ventricular Septal Defect (VSD), is a rare and serious form of multiple VSDs. It is a congenital cardiac condition that presents in a variety of morphologies.

The precise etiology of Swiss Cheese VSD is unknown. However, some proposed mechanisms include a lack of merging in the walls of the trabecular septum or excessive resorption of muscular tissue during ventricular growth and remodelling.

Swiss Cheese VSD can be diagnosed using echocardiography, cardiac Magnetic Resonance Imaging (MRI), or electrocardiogram (ECG)-gated computed tomographic angiography (CTA).

Swiss Cheese VSD typically requires surgical treatment in the early stages after birth due to severe cardiac dysfunction. Surgical repair techniques include the use of a single patch or multiple patches to close the defects in the ventricular septum.

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