developmental cardiac valvular defect

A congenital heart defect refers to a range of possible heart defects that are present at birth. One type of congenital heart defect is a developmental cardiac valvular defect, which affects the structure and function of the heart valves.

• A developmental cardiac valvular defect can occur in several syndromes with identified genetic lesions, including trisomy 21, Noonan syndrome, and others [8].
• This type of defect can cause problems with blood flow through the heart, leading to complications such as heart failure or arrhythmias [7].
• The American Heart Association explains that congenital heart defects, including developmental cardiac valvular defects, can be classified into different types based on their location and effect on the heart's structure and function [15].

Some specific examples of developmental cardiac valvular defects include:

• Aortic valve stenosis: a condition where the aortic valve does not properly open and close, causing blood to flow too slowly or not at all through the valve [2].
• Ebstein’s anomaly: a defect where the tricuspid valve is displaced downward into the right ventricle, leading to problems with blood flow through the heart [13].

It's essential to note that congenital heart defects can have varying effects on an individual's circulatory system and overall health. If you're concerned about your child's mental or physical health due to a developmental cardiac valvular defect, it's crucial to consult with their healthcare professional for proper guidance and care.

References: [2] - Congenital valve malformations are primarily the result of perturbation of genes that regulate normal heart valve development [3]. [7] - Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely [7]. [8] - Developmental defects in valve structure and function occur in several syndromes with identified genetic lesions, including trisomy 21, Noonan, ... [8]. [13] - Ebstein’s anomaly: In this defect, there is a downward displacement of the tricuspid valve (located between the upper and lower chambers on the right side of the heart) into the right bottom chamber of the heart (or right ventricle). This means the atrium is larger than normal and the ventricle is smaller than normal, which can lead to rhythm ... [13]. [15] - The American Heart Association explains the common types of congenital defects including Aortic Valve Stenosis, AVS, Atrial Septal Defect, ASD, Coarctation of the Aorta, CoA, Complete Atrioventricular Canal defect, CAVC, d-Transposition of the great arteries, Ebstein's Anomaly, I-transposition of the great arteries, Patent Ductus Arteriosis, PDA, Pulmonary Valve Stenosis, Single Ventricle ... [15].

Common Signs and Symptoms of Developmental Cardiac Valvular Defect

Developmental cardiac valvular defects can manifest in various ways, depending on the severity and location of the defect. Here are some common signs and symptoms:

• Shortness of breath: This is often one of the earliest and most noticeable symptoms, especially during physical activity or when lying down [1].
• Fatigue: Affected individuals may experience extreme tiredness, which can be a result of the heart working harder to compensate for the defect [9].
• Chest pain: Pain in the chest area can occur due to the increased workload on the heart [8].
• Dizziness or fainting: In severe cases, affected individuals may feel lightheaded or even pass out due to a lack of blood flow to the brain [1][4].
• Swelling of the ankles and feet: Fluid buildup in the body can cause swelling in these areas, especially if the defect is related to heart valve issues [3].
• Irregular heartbeat: Palpitations or skipped beats can be felt in the chest area due to abnormal heart rhythms [5].

Age-Related Symptoms

The symptoms of developmental cardiac valvular defects can vary depending on the age of the affected individual:

• Newborns and infants: May not show any noticeable symptoms, but signs like cyanosis (bluish discoloration) or failure to gain weight may be present [2][5].
• Older children and adults: Symptoms like shortness of breath, fatigue, or fainting during exercise can become more apparent as the individual grows older [4][6].

Other Possible Symptoms

In some cases, developmental cardiac valvular defects can lead to other complications, such as:

• Weak pulse or pounding heartbeat: Abnormal heart rhythms can cause a weak or irregular pulse [7].
• Quick weight gain: In some instances, affected individuals may experience rapid weight gain due to fluid buildup in the body [3].

It's essential to note that not all individuals with developmental cardiac valvular defects will exhibit these symptoms. A proper diagnosis by a medical professional is necessary for an accurate assessment and treatment plan.

References:

[1] - Context result 1 [2] - Context result 5 [3] - Context result 6 [4] - Context result 4 [5] - Context result 5 [6] - Context result 7 [7] - Context result 8 [8] - Context result 8 [9] - Context result 9

Diagnostic Tests for Developmental Cardiac Valvular Defects

Developmental cardiac valvular defects refer to abnormalities in the heart valves that occur during fetal development or early childhood. Diagnosing these conditions requires a combination of clinical evaluation, imaging studies, and laboratory tests.

• Prenatal Screening: Prenatal screening can identify heart valve disease during pregnancy by checking a developing baby's heart (1).
• Fetal Ultrasound: A routine pregnancy ultrasound test (fetal ultrasound) can reveal signs of certain heart defects (2).
• Echocardiogram: An echocardiogram, also known as a heart echo, is the most common diagnostic test for BAV (Bicuspid Aortic Valve) and other valvular heart diseases. It uses sound waves to create pictures of the heart (9).
• Cardiac Catheterization: Cardiac catheterization can be used to evaluate the severity of valvular heart disease by measuring blood pressure and flow in the heart chambers (5, 8).
• Cine CMR: Cine cardiac magnetic resonance imaging (CMR) can be useful for detecting progressive left ventricular dilatation and planning surgery (3).

Diagnostic Tests for Children

For children with suspected congenital heart conditions, experts at Hassenfeld Children's Hospital at NYU Langone conduct a variety of tests to diagnose these conditions. These tests may include advanced diagnostic services such as CT, MRI, and catheterization (4).

Key Points

• Prenatal screening can identify heart valve disease during pregnancy.
• Echocardiogram is the most common diagnostic test for BAV and other valvular heart diseases.
• Cardiac catheterization can be used to evaluate the severity of valvular heart disease.
• Cine CMR can be useful for detecting progressive left ventricular dilatation.

References:

(1) Mar 24, 2022 (2) Jun 19, 2024 (3) by K Maganti · 2010 (4) Experts at Hassenfeld Children's Hospital at NYU Langone (5) by CM Otto · 2021 (6) Through advanced diagnostic services and tests, such as a CT, MRI and catheterization, we can identify and classify the type and severity of your valve ... (7) Cardiologists and surgeons have many ways of diagnosing heart valve disease. The most important is the echocardiogram. (8) by CM Otto · 2021 (9) The most common diagnostic test for BAV is an echocardiogram (echo).

Treatment Options for Developmental Cardiac Valvular Defects

Developmental cardiac valvular defects, also known as congenital heart valve problems, can be treated with a combination of medications and surgical interventions.

• Medications: In some cases, medications may be prescribed to manage symptoms or prevent complications. For example, prostaglandin injections are given shortly after birth to prevent the closure of ductus arteriosus, a vital blood vessel in newborns with certain heart defects [5].
• Beta blockers: Beta blockers, such as beta-blockers or nondihydropyridine calcium channel blockers, may be used to control symptoms like palpitations and shortness of breath in patients with certain types of valvular defects [1][2].
• Calcium channel blockers: Calcium channel blockers, like nifedipine, are another option for treating asymptomatic severe aortic regurgitation and well-preserved left ventricular function [4].

However, it's essential to note that medications alone may not be sufficient to treat more complex valvular defects. In such cases, surgical interventions, such as open-heart surgery or minimally invasive heart surgery, are often necessary to repair or replace the affected valve [6].

Anticoagulation Therapy

In patients with mechanical heart valves, anticoagulation therapy is crucial to prevent blood clots and stroke. Oral anticoagulation with a vitamin K antagonist is recommended for patients with rheumatic mitral stenosis or a mechanical prosthesis and atrial fibrillation [7].

Monitoring and Follow-up

Regular monitoring and follow-up appointments with a cardiologist are essential to ensure that the treatment plan is effective and to make any necessary adjustments.

References:

[1] JS Borer, 2015 - This can be achieved with beta blockers or, less well, with non-dihydropyridine calcium channel blockers94, but not with digoxin95. [2] Sep 15, 2015 - This can be achieved with β-blockers or, less well, with nondihydropyridine calcium channel blockers,94 but not with digoxin. [3] Jun 19, 2024 - Antibiotics may be recommended before dental procedures to prevent infection, especially for people who have a mechanical heart valve. [4] by NA Boon · 2002 · Cited by 86 — Nifedipine is perhaps the best evidence based treatment that can be prescribed for patients with asymptomatic severe aortic regurgitation and well preserved ... [5] As with treatment for single ventricle defects, your baby will be given an injection of a medication called prostaglandin shortly after birth. This will prevent ... [6] Nov 22, 2023 — Methods to repair or replace heart valves include open-heart surgery or minimally invasive heart surgery. Surgeons at some medical centers may ... [7] by CM Otto · 2021 · Cited by 3895 — Patients with rheumatic mitral stenosis or a mechanical prosthesis and atrial fibrillation should receive oral anticoagulation with a vitamin K ...

Differential Diagnosis of Developmental Cardiac Valvular Defects

Developmental cardiac valvular defects refer to abnormalities in the heart valves that occur during fetal development or early childhood. These defects can be congenital, meaning they are present at birth, or acquired due to various factors such as infections, injuries, or genetic conditions.

Common Differential Diagnoses:

• Congenital Heart Defects: These include a range of abnormalities in the heart's structure and function that occur during fetal development. Examples include:
  • Ventricular Septal Defect (VSD): A hole in the wall between the two ventricles, allowing blood to flow from one chamber to the other.
  • Atrial Septal Defect (ASD): A hole in the wall between the two atria, allowing blood to flow from one chamber to the other.
  • Patent Ductus Arteriosus (PDA): A failure of the ductus arteriosus, a normal fetal connection between the pulmonary artery and the aorta, to close after birth.
• Acquired Heart Defects: These can occur due to various factors such as infections, injuries, or genetic conditions. Examples include:
  • Rheumatic Heart Disease: A complication of rheumatic fever that can cause damage to the heart valves.
  • Endocarditis: An infection of the inner lining of the heart and its valves.
  • Cardiac Hypertrophy: A thickening of the heart muscle due to various factors such as high blood pressure or aortic stenosis.

Other Considerations:

• Genetic Conditions: Certain genetic conditions, such as Marfan syndrome or Ehlers-Danlos syndrome, can increase the risk of developing cardiac valvular defects.
• Infectious Diseases: Infections such as endocarditis or myocarditis can cause damage to the heart valves.

References:

1. [8] The differential diagnosis includes Noonan syndrome/RASopathies, cardiospondylocarpofacial syndrome (MAP3K7 gene), cardiac valvular dysplasia (FLNA gene), ...
2. [12] The most frequent cardiovascular manifestations include congenital heart disease (pulmonary valve stenosis, atrioventricular septal defect, atrial septal defect) and cardiac hypertrophy diagnosed during infancy (mean age at diagnosis: 6 months).