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HEC syndrome

MedGen UID:
331549
•Concept ID:
C1833607
•
Disease or Syndrome
Synonyms: Communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts; Hydrocephalus, endocardial fibroelastosis, and cataracts
SNOMED CT: Hydrocephalus with endocardial fibroelastosis and cataract syndrome (721015008); HEC syndrome (721015008); HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome (721015008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010901
OMIM®: 600559
Orphanet: ORPHA2119

Definition

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. [from SNOMEDCT_US]

Clinical features

From HPO
Endocardial fibroelastosis
MedGen UID:
4041
•Concept ID:
C0014117
•
Disease or Syndrome
Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
See: Feature record | Search on this feature
Communicating hydrocephalus
MedGen UID:
1058
•Concept ID:
C0009451
•
Disease or Syndrome
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
See: Feature record | Search on this feature
Polyhydramnios
MedGen UID:
6936
•Concept ID:
C0020224
•
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
See: Feature record | Search on this feature
Developmental cataract
MedGen UID:
3202
•Concept ID:
C0009691
•
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHEC syndrome
Follow this link to review classifications for HEC syndrome in Orphanet.

Professional guidelines

PubMed

Assessment of Cardiometabolic Risk Factors and Insulin Sensitivity by Hyperinsulinemic-Euglycemic Clamp in Resistance to Thyroid Hormone β Syndrome.
Domingues-Hajj PMS, Gomes PM, Magalhães PKR, Maciel LMZ
Thyroid 2024 Aug;34(8):1038-1046. Epub 2024 Jul 3 doi: 10.1089/thy.2024.0132. PMID: 38877800
Treatment options for patients with myelodysplastic syndromes after hypomethylating agent failure.
Carraway HE
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):470-477. doi: 10.1182/asheducation-2016.1.470. PMID: 27913518Free PMC Article
Genetic testing for hereditary cancer: challenges to ethical care in rural and remote communities.
D'Agincourt-Canning L
HEC Forum 2004 Dec;16(4):222-33. doi: 10.1007/s10730-005-2233-z. PMID: 15672697

Recent clinical studies

Etiology

Shared genes of polycystic ovary syndrome and sedentary behavior as a novel immune landscape biomarker for endometrial cancer.
Ge Y, Chen Y, Zhang Y, Hu Y, Jiang F, Lu X, Wu C
Sci Rep 2024 Aug 17;14(1):19111. doi: 10.1038/s41598-024-69951-x. PMID: 39154063Free PMC Article
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Evaluation of the safety profile of COVID-19 vaccines: a rapid review.
Wu Q, Dudley MZ, Chen X, Bai X, Dong K, Zhuang T, Salmon D, Yu H
BMC Med 2021 Jul 28;19(1):173. doi: 10.1186/s12916-021-02059-5. PMID: 34315454Free PMC Article
Therapeutic Interventions of Novel SGLT2 Inhibitors Against Metabolic Disorders: Transforming the Association into Perspectives.
Irshad K, Akash MSH, Rehman K, Sharif H
Endocr Metab Immune Disord Drug Targets 2021;21(12):2169-2180. doi: 10.2174/1871530321666210617164550. PMID: 34139987
Therapy for lower-risk MDS.
Carraway HE, Saygin C
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):426-433. doi: 10.1182/hematology.2020000127. PMID: 33275714Free PMC Article

Diagnosis

Shared genes of polycystic ovary syndrome and sedentary behavior as a novel immune landscape biomarker for endometrial cancer.
Ge Y, Chen Y, Zhang Y, Hu Y, Jiang F, Lu X, Wu C
Sci Rep 2024 Aug 17;14(1):19111. doi: 10.1038/s41598-024-69951-x. PMID: 39154063Free PMC Article
Therapy for lower-risk MDS.
Carraway HE, Saygin C
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):426-433. doi: 10.1182/hematology.2020000127. PMID: 33275714Free PMC Article
Comparison of indirect markers of insulin resistance in adult patients with Double Diabetes.
Ferreira-Hermosillo A, Ibarra-Salce R, Rodríguez-Malacara J, Molina-Ayala MA
BMC Endocr Disord 2020 Jun 15;20(1):87. doi: 10.1186/s12902-020-00570-z. PMID: 32539854Free PMC Article
Peripheral neuropathic mimics of visceral abdominal pain: Can physical examination limit diagnostic testing?
Frumkin K, Delahanty LF
Am J Emerg Med 2018 Dec;36(12):2279-2285. Epub 2018 Aug 18 doi: 10.1016/j.ajem.2018.08.042. PMID: 30170933
Postoperative Hirschsprung's enterocolitis after minimally invasive Swenson's procedure.
Singh R, Cameron BH, Walton JM, Farrokhyar F, Borenstein SH, Fitzgerald PG
J Pediatr Surg 2007 May;42(5):885-9. doi: 10.1016/j.jpedsurg.2006.12.055. PMID: 17502205

Therapy

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Circulating CTRP7 Is a Potential Predictor for Metabolic Syndrome.
Hu W, Zhan B, Li Q, Yang G, Yang M, Tan M, Geng S, Liu H, Chen C, Liu D, Li L
Front Endocrinol (Lausanne) 2021;12:774309. Epub 2021 Nov 11 doi: 10.3389/fendo.2021.774309. PMID: 34867822Free PMC Article
Evaluation of the safety profile of COVID-19 vaccines: a rapid review.
Wu Q, Dudley MZ, Chen X, Bai X, Dong K, Zhuang T, Salmon D, Yu H
BMC Med 2021 Jul 28;19(1):173. doi: 10.1186/s12916-021-02059-5. PMID: 34315454Free PMC Article
Therapeutic Interventions of Novel SGLT2 Inhibitors Against Metabolic Disorders: Transforming the Association into Perspectives.
Irshad K, Akash MSH, Rehman K, Sharif H
Endocr Metab Immune Disord Drug Targets 2021;21(12):2169-2180. doi: 10.2174/1871530321666210617164550. PMID: 34139987
Therapy for lower-risk MDS.
Carraway HE, Saygin C
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):426-433. doi: 10.1182/hematology.2020000127. PMID: 33275714Free PMC Article

Prognosis

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Circulating CTRP7 Is a Potential Predictor for Metabolic Syndrome.
Hu W, Zhan B, Li Q, Yang G, Yang M, Tan M, Geng S, Liu H, Chen C, Liu D, Li L
Front Endocrinol (Lausanne) 2021;12:774309. Epub 2021 Nov 11 doi: 10.3389/fendo.2021.774309. PMID: 34867822Free PMC Article
Therapy for lower-risk MDS.
Carraway HE, Saygin C
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):426-433. doi: 10.1182/hematology.2020000127. PMID: 33275714Free PMC Article
Clinical evaluation of traditional Chinese medicine on mild active ulcerative colitis: A multi-center, randomized, double-blind, controlled trial.
Kou FS, Shi L, Li JX, Wang ZB, Shi R, Mao TY, Ke X, Zhang BP, Yang XJ, Wen XL, Zheng WY, Han X, Ding PH, Dong J
Medicine (Baltimore) 2020 Aug 28;99(35):e21903. doi: 10.1097/MD.0000000000021903. PMID: 32871923Free PMC Article
New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome).
Devi AS, Eisenfeld L, Uphoff D, Greenstein R
Am J Med Genet 1995 Mar 13;56(1):62-6. doi: 10.1002/ajmg.1320560114. PMID: 7747788

Clinical prediction guides

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Global burden and strength of evidence for 88 risk factors in 204 countries and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Risk Factors Collaborators
Lancet 2024 May 18;403(10440):2162-2203. doi: 10.1016/S0140-6736(24)00933-4. PMID: 38762324Free PMC Article
Circulating CTRP7 Is a Potential Predictor for Metabolic Syndrome.
Hu W, Zhan B, Li Q, Yang G, Yang M, Tan M, Geng S, Liu H, Chen C, Liu D, Li L
Front Endocrinol (Lausanne) 2021;12:774309. Epub 2021 Nov 11 doi: 10.3389/fendo.2021.774309. PMID: 34867822Free PMC Article
Evaluation of the safety profile of COVID-19 vaccines: a rapid review.
Wu Q, Dudley MZ, Chen X, Bai X, Dong K, Zhuang T, Salmon D, Yu H
BMC Med 2021 Jul 28;19(1):173. doi: 10.1186/s12916-021-02059-5. PMID: 34315454Free PMC Article
Therapy for lower-risk MDS.
Carraway HE, Saygin C
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):426-433. doi: 10.1182/hematology.2020000127. PMID: 33275714Free PMC Article

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