Endocardial fibroelastosis - Clinicals, Diagnosis, and Management

Cardiovascular

Clinicals - History

Fact Explanation
Age - commonly first 8 months of life (85 per cent) and rarely after 18 months Endocardial fibroelastosis is characterized by a diffuse thickening of the ventricular endocardium, and usually
leads to death from congestive heart failure in early infancy
Primarily a disease of infancy and early childhood, with very rare occurrences in young adulthood
Age - commonly first 8 months of life (85 per cent) and rarely after 18 months
Endocardial fibroelastosis is characterized by a diffuse thickening of the ventricular endocardium, and usually
leads to death from congestive heart failure in early infancy
Primarily a disease of infancy and early childhood, with very rare occurrences in young adulthood
Feeding difficulty / failure to thrive Due to heart failure.
Endocardial fibroelastosis (EFE) is characterized by a thickening of the innermost lining of the heart chambers (the endocardium) due to an increase in the amount of supporting connective tissue and elastic fibers. It is an uncommon cause of unexplained heart failure in infants and children
Feeding difficulty / failure to thrive
Due to heart failure.
Endocardial fibroelastosis (EFE) is characterized by a thickening of the innermost lining of the heart chambers (the endocardium) due to an increase in the amount of supporting connective tissue and elastic fibers. It is an uncommon cause of unexplained heart failure in infants and children
Excessive sweating, breathless Infants with EFE can present with heart failure Excessive sweating, breathless
Infants with EFE can present with heart failure
History of recurrent chest infections Infants with heart failure are more prone to get recurrent chest infections due to change in the pulmonary flow History of recurrent chest infections
Infants with heart failure are more prone to get recurrent chest infections due to change in the pulmonary flow
Congenital heart defects The disease can be secondary a congenital heart diseases, commonly hypoplastic left heart syndrome ( Contracted endocardial fibroelastosis), aortic stenosis, or atresia Congenital heart defects
The disease can be secondary a congenital heart diseases, commonly hypoplastic left heart syndrome ( Contracted endocardial fibroelastosis), aortic stenosis, or atresia
History of intrauterine viral infection The secondary form is
associated with intrauterine viral infections (mumps, coxsackie virus B)
History of intrauterine viral infection
The secondary form is
associated with intrauterine viral infections (mumps, coxsackie virus B)
Family history The secondary form is associated with genetic inheritance of X-linked recessive, autosomal dominant and autosomal recessive patterns.
There may be a family history of nonimmune hydrops fetalis as one of the recognized causes for it is endocardial fibroelastosis
Family history
The secondary form is associated with genetic inheritance of X-linked recessive, autosomal dominant and autosomal recessive patterns.
There may be a family history of nonimmune hydrops fetalis as one of the recognized causes for it is endocardial fibroelastosis
History of metabolic disorder The secondary form is
associated with metabolic disorders. eg: glycogen storage disease
History of metabolic disorder
The secondary form is
associated with metabolic disorders. eg: glycogen storage disease

Clinicals - Examination

Fact Explanation
Dyspnoic Due to heart failure.
Endocardial fibroelastosis (EFE) is characterized by a thickening of the innermost lining of the heart chambers (the endocardium) due to an increase in the amount of supporting connective tissue and elastic fibers. It is an uncommon cause of unexplained heart failure in infants and children
Dyspnoic
Due to heart failure.
Endocardial fibroelastosis (EFE) is characterized by a thickening of the innermost lining of the heart chambers (the endocardium) due to an increase in the amount of supporting connective tissue and elastic fibers. It is an uncommon cause of unexplained heart failure in infants and children
Excessive sweating Infants with EFE can present with heart failure Excessive sweating
Infants with EFE can present with heart failure
Pallor Due to heart failure Pallor
Due to heart failure
Peripheral cyanosis Due to heart failure Peripheral cyanosis
Due to heart failure
Crepitations in lungs Infants with EFE can present with chest infections as infants with heart failure are more prone to get chest infections due to change in pulmonary flow Crepitations in lungs
Infants with EFE can present with chest infections as infants with heart failure are more prone to get chest infections due to change in pulmonary flow
Heart murmurs Due to aortic stenosis - midsystolic ejection murmur, heard best over the “aortic area” or right second intercostal space, with radiation into the right neck.
In the primary or
idiopathic form, an aortic valve stenosis is the most common associated lesion
Apical pansystolic murmur of mitral regurgitation may be heard due to heart failure
Heart murmurs
Due to aortic stenosis - midsystolic ejection murmur, heard best over the “aortic area” or right second intercostal space, with radiation into the right neck.
In the primary or
idiopathic form, an aortic valve stenosis is the most common associated lesion
Apical pansystolic murmur of mitral regurgitation may be heard due to heart failure
Shifted apex beat Cardiomegaly due to heart failure Shifted apex beat
Cardiomegaly due to heart failure
Changes in heart sounds Normal or faint S1 & S2 ,a gallop rhythm with a third heart sound are heard due to the heart failure Changes in heart sounds
Normal or faint S1 & S2 ,a gallop rhythm with a third heart sound are heard due to the heart failure
Hepatoslenomegaly Owing to the right heart failure Hepatoslenomegaly
Owing to the right heart failure

Investigations - Diagnosis

Fact Explanation
Chest x ray Cardiomegaly due to heart failure Chest x ray
Cardiomegaly due to heart failure
Electrocardiogram An abnormal increase in voltage of R in V6, S in V,, or both together,a flat or inverted T wave in V6, a Q wave in V6 Electrocardiogram
An abnormal increase in voltage of R in V6, S in V,, or both together,a flat or inverted T wave in V6, a Q wave in V6
Mumps antigen skin test As mumps is identified as a cause for endocardial fibroelastosis,it is an useful diagnostic procedure in the age group under 2, when primary endocardial fibroelastosis (EFE) has its characteristic onset in the pediatric age group Mumps antigen skin test
As mumps is identified as a cause for endocardial fibroelastosis,it is an useful diagnostic procedure in the age group under 2, when primary endocardial fibroelastosis (EFE) has its characteristic onset in the pediatric age group
Echocardiogram Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed Echocardiogram
Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed
Angiocardiogram A technique for radiographic examination of the heart chambers and thoracic veins and arteries with a liquid radiocontrast agent.
No measurable change in ventricular volume in systole and diastole.Atrial change is less than normal in EFE
Angiocardiogram
A technique for radiographic examination of the heart chambers and thoracic veins and arteries with a liquid radiocontrast agent.
No measurable change in ventricular volume in systole and diastole.Atrial change is less than normal in EFE

Investigations - Management

Fact Explanation
Echocardiogram Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed Echocardiogram
Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed
Chest x ray Cardiomegaly due to heart failure. To identify chest infections Chest x ray
Cardiomegaly due to heart failure. To identify chest infections
Full blood count To assess the hemoglobin levels as heart failure can give rise to anaemia Full blood count
To assess the hemoglobin levels as heart failure can give rise to anaemia
Growth assessment Infants with heart failure have poor growth Growth assessment
Infants with heart failure have poor growth
Chest x ray To identify chest infections as the infants with heart failure, are more prone to get heart failure Chest x ray
To identify chest infections as the infants with heart failure, are more prone to get heart failure
Electrocardiogram An abnormal increase in voltage of R in V6, S in V,, or both together,a flat or inverted T wave in V6, a Q wave in V6 Electrocardiogram
An abnormal increase in voltage of R in V6, S in V,, or both together,a flat or inverted T wave in V6, a Q wave in V6
Mumps antigen skin test As mumps is identified as a cause for endocardial fibroelastosis,it is an useful diagnostic procedure in the age group under 2, when primary endocardial fibroelastosis (EFE) has its characteristic onset in the pediatric age group Mumps antigen skin test
As mumps is identified as a cause for endocardial fibroelastosis,it is an useful diagnostic procedure in the age group under 2, when primary endocardial fibroelastosis (EFE) has its characteristic onset in the pediatric age group
Plasma glucose levels To exclude glycogen storage diseases Plasma glucose levels
To exclude glycogen storage diseases

Management - Supportive

Fact Explanation
Correction of anaemia Heart failure can lead to anaemia Correction of anaemia
Heart failure can lead to anaemia
Prevention of infections Infants with heart failure are more prone to get infections Prevention of infections
Infants with heart failure are more prone to get infections
Growth assessment and giving nutritious food supplements Infants with heart failure are more prone to growth failure Growth assessment and giving nutritious food supplements
Infants with heart failure are more prone to growth failure
Patient education Withdrawal of therapy may lead to reappearance of symptoms. Permit activity to the limit of tolerance Patient education
Withdrawal of therapy may lead to reappearance of symptoms. Permit activity to the limit of tolerance

Management - Specific

Fact Explanation
Correction of congenital defects Correct ventricular septal defects by surgical methods Correction of congenital defects
Correct ventricular septal defects by surgical methods
Diuretics Help to reduce fluid overload from heart failure by inhibiting reabsorption of fluid renal ducts Diuretics
Help to reduce fluid overload from heart failure by inhibiting reabsorption of fluid renal ducts
Angiotensin-converting-enzyme inhibitors To treat heart failure.Reduce the afterload by it's vasodilatory action Angiotensin-converting-enzyme inhibitors
To treat heart failure.Reduce the afterload by it's vasodilatory action
Digoxin Improves the contractility of myocardial fibers, reduces the heart rate by lowering the sympathetic stimulation in chronic heart failure Digoxin
Improves the contractility of myocardial fibers, reduces the heart rate by lowering the sympathetic stimulation in chronic heart failure
Anticoagulants (warfarin) Will be required in thromboembolic complications (cerebral,coronary,pulmonary thromboembolism) Anticoagulants (warfarin)
Will be required in thromboembolic complications (cerebral,coronary,pulmonary thromboembolism)
Heart transplantation The cause should be identified and, where possible, the treatment should be directed to that cause. The last resort form of treatment is heart transplant in end stage Heart transplantation
The cause should be identified and, where possible, the treatment should be directed to that cause. The last resort form of treatment is heart transplant in end stage

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