History

Fact Explanation
Age - commonly first 8 months of life (85 per cent) and rarely after 18 months [1] Endocardial fibroelastosis is characterized by a diffuse thickening of the ventricular endocardium, and usually leads to death from congestive heart failure in early infancy [5] Primarily a disease of infancy and early childhood, with very rare occurrences in young adulthood [2]
Feeding difficulty / failure to thrive [3] 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 [3]
Excessive sweating, breathless [6] Infants with EFE can present with heart failure [3]
History of recurrent chest infections [3] Infants with heart failure are more prone to get recurrent chest infections due to change in the pulmonary flow [3]
Congenital heart defects [4] The disease can be secondary a congenital heart diseases, commonly hypoplastic left heart syndrome ( Contracted endocardial fibroelastosis), aortic stenosis, or atresia [4]
History of intrauterine viral infection [4] The secondary form is associated with intrauterine viral infections (mumps, coxsackie virus B) [4]
Family history [4] 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 [4]
History of metabolic disorder [4] The secondary form is associated with metabolic disorders. eg: glycogen storage disease [4]
References
  1. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49
  2. GUPTA D, ODIGIE-OKON EG, RATNER S, KADIYALA M, CAO JJ. Secondary Endocardial Fibroelastosis in an Adult: Three-Year Follow-Up by Cardiac Magnetic Resonance Imaging Tex Heart Inst J [online] 2012, 39(5):761-763 [viewed 06 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461694
  3. LINDE L. M., ADAMS F. H., O'LOUGHLIN B. J.. Endocardial Fibroelastosis: Angiocardiographic Studies. Circulation [online] 1958 January, 17(1):40-45 [viewed 06 July 2014] Available from: doi:10.1161/01.CIR.17.1.40
  4. TANNOURI F, RYPENS F, PENY MO, NOëL JC, DONNER C, STRUYVEN J, AVNI F. Fetal endocardial fibroelastosis: ultrasonographic findings in two cases. J Ultrasound Med [online] 1998 Jan, 17(1):63-6 [viewed 06 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9440110
  5. TRASTOUR C., BAFGHI A., DELOTTE J., MAINGUENE C., BENOIT B., BONGAIN A.. Early prenatal diagnosis of endocardial fibroelastosis. Ultrasound Obstet Gynecol [online] December, 26(3):303-304 [viewed 21 September 2014] Available from: doi:10.1002/uog.1944
  6. NIELD LYNNE E, SMALLHORN JEFFREY F, BENSON LELAND N, HORNBERGER LISA K, SILVERMAN EARL D, TAYLOR GLENN P, MULLEN M, BRENDAN J, HORNBERGER LISA K.. Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. Journal of the American College of Cardiology [online] 2002 August, 40(4):796-802 [viewed 21 September 2014] Available from: doi:10.1016/S0735-1097(02)02004-1

Examination

Fact Explanation
Dyspnoic [4] 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 [1]
Excessive sweating [5] Infants with EFE can present with heart failure [1]
Pallor [1] Due to heart failure [1]
Peripheral cyanosis [1] Due to heart failure [1]
Crepitations in lungs [1] 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 [1]
Heart murmurs [2] 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 [2] Apical pansystolic murmur of mitral regurgitation may be heard due to heart failure [3]
Shifted apex beat [3] Cardiomegaly due to heart failure [3]
Changes in heart sounds [3] Normal or faint S1 & S2 ,a gallop rhythm with a third heart sound are heard due to the heart failure [3]
Hepatoslenomegaly [3] Owing to the right heart failure [3]
References
  1. LINDE L. M., ADAMS F. H., O'LOUGHLIN B. J.. Endocardial Fibroelastosis: Angiocardiographic Studies. Circulation [online] 1958 January, 17(1):40-45 [viewed 06 July 2014] Available from: doi:10.1161/01.CIR.17.1.40
  2. TANNOURI F, RYPENS F, PENY MO, NOëL JC, DONNER C, STRUYVEN J, AVNI F. Fetal endocardial fibroelastosis: ultrasonographic findings in two cases. J Ultrasound Med [online] 1998 Jan, 17(1):63-6 [viewed 06 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9440110
  3. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49
  4. STEGER CHRISTINA M, ANTRETTER HERWIG, MOSER PATRIZIA L. Endocardial fibroelastosis of the heart. The Lancet [online] 2012 March [viewed 21 September 2014] Available from: doi:10.1016/S0140-6736(11)61418-9
  5. NIELD LYNNE E, SMALLHORN JEFFREY F, BENSON LELAND N, HORNBERGER LISA K, SILVERMAN EARL D, TAYLOR GLENN P, MULLEN M, BRENDAN J, HORNBERGER LISA K.. Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. Journal of the American College of Cardiology [online] 2002 August, 40(4):796-802 [viewed 21 September 2014] Available from: doi:10.1016/S0735-1097(02)02004-1

Differential Diagnoses

Fact Explanation
Glycogen storage diseases [1] Glycogen-storage disease of the heart is a uniformly fatal disease in infancy, and death usually occurs during the first 8 months of life. The electrocardiogram may show left ventricular loading with T-wave inversion in V6. The majority of these children have a history of generalized muscular weakness from birth, and characteristically have macroglossia. A histologic section from an involved muscle may reveal the true diagnosis [1]
Myocarditis [1] Inflammatory cardiomyopathy due to inflammation of heart muscle (myocardium). The electrocardiograms in myocarditis and endocardial fibroelastosis show differences of diagnostic significance. The voltage of the R wave in V6 or the voltage of the S wave in V1 is abnormally high in most cases of endocardial fibroelastosis [1]
Hypoplastic Left Heart Syndrome [1] Marked hypoplasia of the left ventricle and ascending aorta [1]
References
  1. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49

Investigations - for Diagnosis

Fact Explanation
Chest x ray [1] Cardiomegaly due to heart failure [1]
Electrocardiogram [1] 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 [1]
Mumps antigen skin test [1] 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 [1]
Echocardiogram [3] Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed [2]
Angiocardiogram [2] 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 [2]
References
  1. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49
  2. LINDE L. M., ADAMS F. H., O'LOUGHLIN B. J.. Endocardial Fibroelastosis: Angiocardiographic Studies. Circulation [online] 1958 January, 17(1):40-45 [viewed 06 July 2014] Available from: doi:10.1161/01.CIR.17.1.40
  3. MOLLER J. H., LUCAS R. V., ADAMS P., ANDERSON R. C., JORGENS J., EDWARDS J. E.. Endocardial Fibroelastosis: A Clinical and Anatomic Study of 47 Patients with Emphasis on Its Relationship to Mitral Insufficiency. Circulation [online] 1964 November, 30(5):759-782 [viewed 21 September 2014] Available from: doi:10.1161/01.CIR.30.5.759

Investigations - Fitness for Management

Fact Explanation
Chest x ray [1] To identify chest infections as the infants with heart failure, are more prone to get heart failure [1]
Full blood count [1] To assess the hemoglobin levels as heart failure can give rise to anaemia [1]
References
  1. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49

Investigations - Followup

Fact Explanation
Echocardiogram [1] Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed [1]
Chest x ray [2] Cardiomegaly due to heart failure. To identify chest infections [2]
Full blood count [2] To assess the hemoglobin levels as heart failure can give rise to anaemia [2]
Growth assessment [1] Infants with heart failure have poor growth [1]
References
  1. LINDE L. M., ADAMS F. H., O'LOUGHLIN B. J.. Endocardial Fibroelastosis: Angiocardiographic Studies. Circulation [online] 1958 January, 17(1):40-45 [viewed 06 July 2014] Available from: doi:10.1161/01.CIR.17.1.40
  2. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49

Investigations - Screening/Staging

Fact Explanation
Electrocardiogram [1] 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 [1]
Mumps antigen skin test [1] 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 [1]
Echocardiogram [2] Cardiomegaly, ejection fraction, left ventricular wall thickness,congenital abnormalities and valve defects can be assessed [2]
Plasma glucose levels [1] To exclude glycogen storage diseases [1]
References
  1. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49
  2. LINDE L. M., ADAMS F. H., O'LOUGHLIN B. J.. Endocardial Fibroelastosis: Angiocardiographic Studies. Circulation [online] 1958 January, 17(1):40-45 [viewed 06 July 2014] Available from: doi:10.1161/01.CIR.17.1.40

Management - General Measures

Fact Explanation
Correction of anaemia [1] Heart failure can lead to anaemia [1]
Prevention of infections [1] Infants with heart failure are more prone to get infections [1]
Growth assessment and giving nutritious food supplements [1] Infants with heart failure are more prone to growth failure [1]
Patient education [2] Withdrawal of therapy may lead to reappearance of symptoms. Permit activity to the limit of tolerance [2]
References
  1. LINDE L. M., ADAMS F. H., O'LOUGHLIN B. J.. Endocardial Fibroelastosis: Angiocardiographic Studies. Circulation [online] 1958 January, 17(1):40-45 [viewed 06 July 2014] Available from: doi:10.1161/01.CIR.17.1.40
  2. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49

Management - Specific Treatments

Fact Explanation
Correction of congenital defects [1] Correct ventricular septal defects by surgical methods [1]
Diuretics [1] Help to reduce fluid overload from heart failure by inhibiting reabsorption of fluid renal ducts [1]
Angiotensin-converting-enzyme inhibitors [1] To treat heart failure.Reduce the afterload by it's vasodilatory action [1]
Digoxin [1] Improves the contractility of myocardial fibers, reduces the heart rate by lowering the sympathetic stimulation in chronic heart failure [1]
Anticoagulants (warfarin) [1] Will be required in thromboembolic complications (cerebral,coronary,pulmonary thromboembolism) [2]
Heart transplantation [4] 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 [3]
References
  1. YANCY C. W., JESSUP M., BOZKURT B., BUTLER J., CASEY D. E., DRAZNER M. H., FONAROW G. C., GERACI S. A., HORWICH T., JANUZZI J. L., JOHNSON M. R., KASPER E. K., LEVY W. C., MASOUDI F. A., MCBRIDE P. E., MCMURRAY J. J. V., MITCHELL J. E., PETERSON P. N., RIEGEL B., SAM F., STEVENSON L. W., TANG W. H. W., TSAI E. J., WILKOFF B. L.. 2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation [online] December, 128(16):e240-e327 [viewed 06 July 2014] Available from: doi:10.1161/​CIR.0b013e31829e8776
  2. SELLERS F. J., KEITH J. D., MANNING J. A.. The Diagnosis of Primary Endocardial Fibroelastosis. Circulation [online] 1964 January, 29(1):49-59 [viewed 06 July 2014] Available from: doi:10.1161/​01.CIR.29.1.49
  3. NETZ H, BAUER J, SCHELD HH, BERTRAM U, MOOSDORF R, HAGEL KJ, FITZ H, BECKER HE. Cardiac Transplantation in a Neonate with Endocardial Fibroelastosis Tex Heart Inst J [online] 1990, 17(2):122-125 [viewed 06 July 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC326468
  4. NIELD LYNNE E, SMALLHORN JEFFREY F, BENSON LELAND N, HORNBERGER LISA K, SILVERMAN EARL D, TAYLOR GLENN P, MULLEN M, BRENDAN J, HORNBERGER LISA K.. Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block. Journal of the American College of Cardiology [online] 2002 August, 40(4):796-802 [viewed 21 September 2014] Available from: doi:10.1016/S0735-1097(02)02004-1