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Endocardial fibroelastosis(EFE)

MedGen UID:
4041
Concept ID:
C0014117
Disease or Syndrome
Synonym: EFE
SNOMED CT: Endocardial fibroelastosis (65457005); Elastomyofibrosis (65457005); EFE - Endocardial fibroelastosis (65457005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
HPO: HP:0001706
Monarch Initiative: MONDO:0009169
OMIM®: 226000
Orphanet: ORPHA2022

Definition

Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Endocardial fibroelastosis
Follow this link to review classifications for Endocardial fibroelastosis in Orphanet.

Conditions with this feature

Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Renal carnitine transport defect
MedGen UID:
90999
Concept ID:
C0342788
Disease or Syndrome
Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. It encompasses a broad clinical spectrum including the following: Metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis. Childhood myopathy involving heart and skeletal muscle with onset between age two and four years. Pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia. Fatigability in adulthood. Absence of symptoms. The latter two categories often include mothers diagnosed with CDSP after newborn screening has identified low carnitine levels in their infants.
3-Methylglutaconic aciduria type 2
MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.
HEC syndrome
MedGen UID:
331549
Concept ID:
C1833607
Disease or Syndrome
Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.
Dilated cardiomyopathy 1M
MedGen UID:
334498
Concept ID:
C1843808
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.
Ulnar agenesis and endocardial fibroelastosis
MedGen UID:
336387
Concept ID:
C1848649
Disease or Syndrome
Endocardial fibroelastosis and coarctation of abdominal aorta
MedGen UID:
341665
Concept ID:
C1856971
Disease or Syndrome
Dilated cardiomyopathy 1AA
MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Atrial standstill 1
MedGen UID:
1646392
Concept ID:
C4551959
Disease or Syndrome
Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.
Immunodeficiency 80 with or without congenital cardiomyopathy
MedGen UID:
1786417
Concept ID:
C5543344
Disease or Syndrome
Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).

Professional guidelines

PubMed

Lee LA
Paediatr Drugs 2004;6(2):71-8. doi: 10.2165/00148581-200406020-00001. PMID: 15035648
Cayler GG
Calif Med 1968 Mar;108(3):188-200. PMID: 4867629Free PMC Article
FOWLER NO
Prog Cardiovasc Dis 1964 Jul;7:1-16. doi: 10.1016/s0033-0620(64)80027-x. PMID: 14214809

Recent clinical studies

Etiology

Reyes JA, Dipchand AI, Chiasson DA
Cardiol Young 2022 Jul;32(7):1041-1047. Epub 2021 Sep 6 doi: 10.1017/S1047951121003590. PMID: 34486505
Izmirly P, Kim M, Friedman DM, Costedoat-Chalumeau N, Clancy R, Copel JA, Phoon CKL, Cuneo BF, Cohen RE, Robins K, Masson M, Wainwright BJ, Zahr N, Saxena A, Buyon JP
J Am Coll Cardiol 2020 Jul 21;76(3):292-302. doi: 10.1016/j.jacc.2020.05.045. PMID: 32674792Free PMC Article
Weixler V, Marx GR, Hammer PE, Emani SM, Del Nido PJ, Friehs I
J Thorac Cardiovasc Surg 2020 Feb;159(2):637-646. Epub 2019 Sep 26 doi: 10.1016/j.jtcvs.2019.08.101. PMID: 31668539
Brito-Zerón P, Izmirly PM, Ramos-Casals M, Buyon JP, Khamashta MA
Lupus 2016 Feb;25(2):116-28. doi: 10.1177/0961203315624024. PMID: 26762645
Petris AO, Alexandrescu DM, Costache II
Rev Med Chir Soc Med Nat Iasi 2014 Apr-Jun;118(2):289-92. PMID: 25076689

Diagnosis

Aldawsari KA, Alhuzaimi AN, Alotaibi MT, Albert-Brotons DC
Heart Fail Rev 2023 Sep;28(5):1023-1031. Epub 2023 May 24 doi: 10.1007/s10741-023-10319-0. PMID: 37222928
Wainwright B, Bhan R, Trad C, Cohen R, Saxena A, Buyon J, Izmirly P
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:41-51. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.001. PMID: 31685414
Emani SM, Marx GR
Curr Opin Cardiol 2016 Jan;31(1):101-8. doi: 10.1097/HCO.0000000000000250. PMID: 26627316
Petris AO, Alexandrescu DM, Costache II
Rev Med Chir Soc Med Nat Iasi 2014 Apr-Jun;118(2):289-92. PMID: 25076689
Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG
Orphanet J Rare Dis 2013 Feb 12;8:23. doi: 10.1186/1750-1172-8-23. PMID: 23398819Free PMC Article

Therapy

Beattie MJ, Sleeper LA, Lu M, Teele SA, Breitbart RE, Esch JJ, Salvin JW, Kapoor U, Oladunjoye O, Emani SM, Banka P
J Thorac Cardiovasc Surg 2023 Sep;166(3):933-942.e3. Epub 2023 Jan 23 doi: 10.1016/j.jtcvs.2023.01.018. PMID: 36803549
Mawad W, Hornberger L, Cuneo B, Raboisson MJ, Moon-Grady AJ, Lougheed J, Diab K, Parkman J, Silverman E, Jaeggi E
J Am Heart Assoc 2022 Feb;11(3):e023000. Epub 2022 Jan 8 doi: 10.1161/JAHA.121.023000. PMID: 35001672Free PMC Article
Izmirly P, Kim M, Friedman DM, Costedoat-Chalumeau N, Clancy R, Copel JA, Phoon CKL, Cuneo BF, Cohen RE, Robins K, Masson M, Wainwright BJ, Zahr N, Saxena A, Buyon JP
J Am Coll Cardiol 2020 Jul 21;76(3):292-302. doi: 10.1016/j.jacc.2020.05.045. PMID: 32674792Free PMC Article
Xu X, Friehs I, Zhong Hu T, Melnychenko I, Tampe B, Alnour F, Iascone M, Kalluri R, Zeisberg M, Del Nido PJ, Zeisberg EM
Circ Res 2015 Feb 27;116(5):857-66. Epub 2015 Jan 13 doi: 10.1161/CIRCRESAHA.116.305629. PMID: 25587097Free PMC Article
McNamara DG
Pediatr Clin North Am 1964 May;11(2):295-314. doi: 10.1016/s0031-3955(16)31552-8. PMID: 4385968

Prognosis

Aldawsari KA, Alhuzaimi AN, Alotaibi MT, Albert-Brotons DC
Heart Fail Rev 2023 Sep;28(5):1023-1031. Epub 2023 May 24 doi: 10.1007/s10741-023-10319-0. PMID: 37222928
Reyes JA, Dipchand AI, Chiasson DA
Cardiol Young 2022 Jul;32(7):1041-1047. Epub 2021 Sep 6 doi: 10.1017/S1047951121003590. PMID: 34486505
Izmirly P, Kim M, Friedman DM, Costedoat-Chalumeau N, Clancy R, Copel JA, Phoon CKL, Cuneo BF, Cohen RE, Robins K, Masson M, Wainwright BJ, Zahr N, Saxena A, Buyon JP
J Am Coll Cardiol 2020 Jul 21;76(3):292-302. doi: 10.1016/j.jacc.2020.05.045. PMID: 32674792Free PMC Article
Petris AO, Alexandrescu DM, Costache II
Rev Med Chir Soc Med Nat Iasi 2014 Apr-Jun;118(2):289-92. PMID: 25076689
Buyon JP, Rupel A, Clancy RM
Lupus 2004;13(9):705-12. doi: 10.1191/0961203304lu2008oa. PMID: 15485109

Clinical prediction guides

Reyes JA, Dipchand AI, Chiasson DA
Cardiol Young 2022 Jul;32(7):1041-1047. Epub 2021 Sep 6 doi: 10.1017/S1047951121003590. PMID: 34486505
Wainwright B, Bhan R, Trad C, Cohen R, Saxena A, Buyon J, Izmirly P
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:41-51. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.001. PMID: 31685414
Costedoat-Chalumeau N, Georgin-Lavialle S, Amoura Z, Piette JC
Lupus 2005;14(9):660-4. doi: 10.1191/0961203305lu2195oa. PMID: 16218462
Lee LA
Paediatr Drugs 2004;6(2):71-8. doi: 10.2165/00148581-200406020-00001. PMID: 15035648
Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F
J Inherit Metab Dis 1999 Jun;22(4):555-67. doi: 10.1023/a:1005568609936. PMID: 10407787

Recent systematic reviews

Sheng X, Song X, Xiong Y, Ren T, Chang X, Wu J, Cao J, Cheng T, Wang M
Pediatr Rheumatol Online J 2023 Mar 4;21(1):22. doi: 10.1186/s12969-023-00803-0. PMID: 36870970Free PMC Article

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