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Ventricular Septal Defect

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Description: Ventricular septal defect (VSD) is a congenital heart condition characterized by a hole in the wall (septum) that separates the two lower chambers (ventricles) of the heart.
Type: Ventricular septal defect (VSD) is a type of congenital heart defect characterized by a hole in the septum separating the lower chambers of the heart. It typically occurs sporadically, but can also be associated with genetic syndromes exhibiting autosomal dominant or autosomal recessive inheritance. In many cases, the exact cause remains unknown.
Signs And Symptoms: Ventricular septal defect is usually symptomless at birth. It usually manifests a few weeks after birth.VSD is an acyanotic congenital heart defect, aka a left-to-right shunt, so there are no signs of cyanosis in the early stage. However, uncorrected VSD can increase pulmonary resistance leading to the reversal of the shunt and corresponding cyanosis.
Pansystolic (Holosystolic) murmur along lower left sternal border (depending upon the size of the defect) +/- palpable thrill (palpable turbulence of blood flow). Heart sounds are normal. Larger VSDs may cause a parasternal heave, a displaced apex beat (the palpable heartbeat moves laterally over time, as the heart enlarges). An infant with a large VSD will fail to thrive and become sweaty and tachypnoeic (breathe faster) with feeds.The restrictive ventricular septal defects (smaller defects) are associated with a louder murmur and more palpable thrill (grade IV murmur). Larger defects may eventually be associated with pulmonary hypertension due to the increased blood flow. Over time this may lead to an Eisenmenger's syndrome the original VSD operating with a left-to-right shunt, now becomes a right-to-left shunt because of the increased pressures in the pulmonary vascular bed.
Prognosis: Ventricular septal defect (VSD) prognosis can vary. Small VSDs often close on their own and may not cause significant problems, leading to a good prognosis. Larger VSDs may require surgical intervention to prevent complications such as heart failure, pulmonary hypertension, or growth delay. With proper treatment, many individuals with VSD can lead normal, healthy lives. Regular follow-up with a cardiologist is essential to monitor and manage the condition effectively.
Onset: Ventricular septal defect (VSD) is a congenital condition, meaning it is present at birth. It occurs when there is a hole in the wall (septum) separating the heart's lower chambers (ventricles). The defect allows oxygen-rich and oxygen-poor blood to mix, which can lead to various symptoms.
Prevalence: The prevalence of ventricular septal defect (VSD) is about 1-2 per 1,000 live births, making it one of the most common congenital heart defects.
Epidemiology: VSDs are the most common congenital cardiac abnormalities. They are found in 30-60% of all newborns with a congenital heart defect, or about 2-6 per 1000 births. During heart formation, when the heart begins life as a hollow tube, it begins to partition, forming septa. If this does not occur properly it can lead to an opening being left within the ventricular septum. It is debatable whether all those defects are true heart defects, or if some of them are normal phenomena, since most of the trabecular VSDs close spontaneously. Prospective studies give a prevalence of 2-5 per 100 births of trabecular VSDs that close shortly after birth in 80-90% of the cases.
Intractability: Ventricular septal defect (VSD) is not inherently intractable. There are various treatment options available depending on the size and severity of the defect. Small VSDs may close on their own and require only monitoring, while larger defects might necessitate surgical intervention or catheter-based procedures to repair the septum. With appropriate medical care, many individuals with VSD can lead normal, healthy lives.
Disease Severity: Ventricular Septal Defect (VSD) disease severity can vary. It depends on the size of the defect and the presence of other heart abnormalities. Small VSDs may cause no symptoms and close on their own, while moderate to large VSDs can lead to significant health issues such as heart failure, pulmonary hypertension, and growth retardation if not treated.
Healthcare Professionals: Disease Ontology ID - DOID:1657
Pathophysiology: During ventricular contraction, or systole, some of the blood from the left ventricle leaks into the right ventricle, passes through the lungs and reenters the left ventricle via the pulmonary veins and left atrium. This has two net effects. First, the circuitous refluxing of blood causes volume overload on the left ventricle. Second, because the left ventricle normally has a much higher systolic pressure (~120 mmHg) than the right ventricle (~20 mmHg), the leakage of blood into the right ventricle therefore elevates right ventricular pressure and volume, causing pulmonary hypertension with its associated symptoms.
In serious cases, the pulmonary arterial pressure can reach levels that equal the systemic pressure. This reverses the left to right shunt, so that blood then flows from the right ventricle into the left ventricle, resulting in cyanosis, as blood is by-passing the lungs for oxygenation.This effect is more noticeable in patients with larger defects, who may present with breathlessness, poor feeding and failure to thrive in infancy. Patients with smaller defects may be asymptomatic. Four different septal defects exist, with perimembranous most common, outlet, atrioventricular, and muscular less commonly.
Carrier Status: Ventricular septal defect (VSD) is a congenital heart defect characterized by a hole in the wall separating the two lower chambers of the heart (ventricles). It is typically not associated with a carrier status, as it is not an inherited condition in a way that involves carriers. Instead, it often occurs sporadically due to random genetic mutations or environmental factors during fetal development.
Mechanism: Ventricular septal defect (VSD) is a congenital heart defect characterized by an abnormal opening in the interventricular septum, which allows blood to pass from the left to the right ventricle. This shunting of blood leads to increased pulmonary blood flow and can cause pulmonary hypertension and heart failure if left untreated.

Molecular Mechanisms:
1. **Genetic Factors**: Mutations in genes such as NKX2-5, GATA4, and TBX20, which are crucial for heart development, can lead to VSD. These genes play roles in the formation and septation of the heart chambers during embryonic development.
2. **Signaling Pathways**: Abnormalities in signaling pathways like the Hedgehog, Notch, and Wnt pathways, which are involved in cardiac cell differentiation and tissue patterning, can result in defects in the formation of the ventricular septum.
3. **Transcription Factors**: Disruptions in the expression and function of transcription factors that regulate the expression of genes essential for cardiac development can contribute to VSD. Examples include TBX5, HAND1, and ZFPM2.
4. **Environmental Factors**: Non-genetic factors such as maternal health conditions (e.g., diabetes), exposure to certain medications, alcohol, or infections during pregnancy can influence the risk of developing VSD.

Defective molecular mechanisms in these areas disrupt normal cardiac morphogenesis, leading to the development of a ventricular septal defect.
Treatment: Most cases do not need treatment and heal during the first years of life. Treatment is either conservative or surgical. Smaller congenital VSDs often close on their own, as the heart grows, and in such cases may be treated conservatively.
Some cases may necessitate surgical intervention, i.e. with the following indications:

Failure of congestive cardiac failure to respond to medications
VSD with pulmonic stenosis
Large VSD with pulmonary hypertension
VSD with aortic regurgitationFor the surgical procedure, a heart-lung machine is required and a median sternotomy is performed. Percutaneous endovascular procedures are less invasive and can be done on a beating heart, but are only suitable for certain patients. Repair of most VSDs is complicated by the fact that the conducting system of the heart is in the immediate vicinity.
Ventricular septum defect in infants is initially treated medically with cardiac glycosides (e.g., digoxin 10-20 μg/kg per day), loop diuretics (e.g., furosemide 1–3 mg/kg per day) and ACE inhibitors (e.g., captopril 0.5–2 mg/kg per day).
Compassionate Use Treatment: Ventricular septal defect (VSD) primarily requires surgical or medical management rather than investigational drugs. However, for compassionate use or experimental treatment, there are a few potential considerations:

1. **Percutaneous Device Closure:** Although not experimental, this less invasive method is increasingly used for VSD closure, especially in patients for whom open-heart surgery poses high risks.

2. **Cardiac Regeneration Therapy:** Research into stem cell therapy for cardiac tissue regeneration is ongoing. Though not a standard treatment for VSD, this approach may be explored under experimental protocols.

3. **Gene Therapy:** Still largely in preclinical stages, gene therapy aims to correct genetic abnormalities associated with cardiac defects, including VSD.

These treatments are experimental and typically only available within clinical trials or under specific compassionate use protocols. Always consult with a cardiologist or a specialized medical professional for current and personalized treatment options.
Lifestyle Recommendations: For ventricular septal defect (VSD):

**Lifestyle Recommendations:**
1. **Regular Check-Ups:** Regular follow-ups with a cardiologist to monitor heart function and VSD size.
2. **Physical Activity:** Engage in appropriate physical activity as advised by a doctor. Some children and adults may need to avoid rigorous sports or activities.
3. **Healthy Diet:** Maintain a balanced diet rich in fruits, vegetables, lean proteins, and whole grains to support heart health.
4. **Avoid Smoking and Alcohol:** Refrain from smoking and limit alcohol consumption to reduce additional heart strain.
5. **Infection Prevention:** Practice good hygiene and follow guidelines for preventing infective endocarditis, as people with VSD may be more susceptible.
6. **Medication Adherence:** Take all prescribed medications as directed, which may include medications to manage symptoms or prevent complications.

Always follow the specific advice of healthcare providers tailored to the individual's condition and overall health.
Medication: Medications are generally not used to treat the ventricular septal defect (VSD) itself, but can help manage symptoms and prevent complications. Commonly prescribed medications include:

1. **Diuretics:** Such as furosemide, to reduce fluid buildup in the lungs.
2. **ACE inhibitors:** Such as enalapril or captopril, to lower blood pressure and decrease the workload on the heart.
3. **Digoxin:** To help strengthen the heart muscle and regulate heart rhythm.

These medications can help control symptoms related to heart failure and may be used in children or adults awaiting surgery or in cases where surgery is not immediately necessary. Always consult with a healthcare provider for proper diagnosis and treatment plan.
Repurposable Drugs: Ventricular septal defect (VSD) is a congenital heart condition characterized by a hole in the ventricular septum, the wall separating the two lower chambers of the heart. This condition can lead to complications like heart failure, pulmonary hypertension, and arrhythmias.

Regarding repurposable drugs for VSD:

1. **Angiotensin-Converting Enzyme (ACE) Inhibitors**: Drugs like enalapril and captopril can help manage heart failure symptoms and reduce the workload on the heart by lowering blood pressure.

2. **Beta-Blockers**: Medications such as propranolol and metoprolol may be used to manage symptoms of heart failure and prevent arrhythmias.

3. **Diuretics**: These can help reduce fluid accumulation in the body and lungs, easing the workload on the heart. Common examples include furosemide and spironolactone.

4. **Digoxin**: This drug can improve heart function and help control heart rate in some patients with VSD who develop heart failure or arrhythmias.

It is essential to note that these medications address symptoms and complications rather than the defect itself. Surgical or catheter-based intervention is often required to correct the defect, especially in significant cases. Always consult a healthcare professional for proper diagnosis and treatment recommendations.
Metabolites: Ventricular septal defect (VSD) does not directly relate to specific metabolites because it is a structural heart defect rather than a metabolic disorder. VSD involves a hole in the wall (septum) separating the two lower chambers (ventricles) of the heart. This defect allows blood to pass from the left to the right ventricle, which can lead to increased blood flow to the lungs and over time may cause symptoms such as breathlessness, fatigue, and may contribute to heart failure.

Therefore, in the context of VSD, there are no specific metabolites directly associated with the condition. Evaluation and management focus on the structural and hemodynamic implications rather than on biochemical metabolites.
Nutraceuticals: Nutraceuticals are not considered a primary treatment or prevention strategy for ventricular septal defect (VSD). VSD is a congenital heart defect where there's a hole in the wall separating the heart's ventricles. Management typically involves monitoring, medications, and potentially surgical interventions. Nutraceuticals are supplements derived from food sources that provide health benefits, but there is no evidence to suggest they can treat or prevent VSD.
Peptides: Ventricular septal defect (VSD) is a congenital heart defect characterized by a hole in the wall (septum) that separates the two lower chambers (ventricles) of the heart. Peptides do not have a direct role in the treatment or diagnosis of VSD. Management typically involves monitoring, medications to reduce symptoms, and surgical repair if necessary. There is no notable association between VSD and nanoparticles (referred to as "nan."), as they are not commonly used in the standard treatment or diagnostic processes for this condition.