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Lymphatic malformation 7(LMPHM7)

MedGen UID:
934596
Concept ID:
C4310629
Disease or Syndrome
Synonyms: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; LMPHM7
 
Gene (location): EPHB4 (7q22.1)
 
Monarch Initiative: MONDO:0015009
OMIM®: 617300

Definition

LMPHM7 is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Pericardial effusion
MedGen UID:
10653
Concept ID:
C0031039
Disease or Syndrome
Accumulation of fluid within the pericardium.
Varicose disease
MedGen UID:
21827
Concept ID:
C0042345
Disease or Syndrome
Enlarged and tortuous veins.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Ascites
MedGen UID:
416
Concept ID:
C0003962
Disease or Syndrome
Accumulation of fluid in the peritoneal cavity.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Chylothorax
MedGen UID:
40305
Concept ID:
C0008733
Disease or Syndrome
Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
Pleural effusion
MedGen UID:
10805
Concept ID:
C0032227
Disease or Syndrome
The presence of an excessive amount of fluid in the pleural cavity.
Pulmonary edema
MedGen UID:
11026
Concept ID:
C0034063
Pathologic Function
Fluid accumulation in the lungs.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Facial edema
MedGen UID:
154241
Concept ID:
C0542571
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
Non-immune hydrops fetalis
MedGen UID:
105327
Concept ID:
C0455988
Disease or Syndrome
Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).
Increased nuchal translucency
MedGen UID:
869253
Concept ID:
C4023676
Finding
Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).

Professional guidelines

PubMed

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Bertino F, Trofimova AV, Gilyard SN, Hawkins CM
Pediatr Radiol 2021 Jun;51(7):1162-1184. Epub 2021 Apr 16 doi: 10.1007/s00247-021-04968-2. PMID: 33860862
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766

Recent clinical studies

Etiology

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Plettendorff L, Werner JA, Wiegand S
In Vivo 2023 Jan-Feb;37(1):366-370. doi: 10.21873/invivo.13087. PMID: 36593008Free PMC Article
Baldo F, Fachin A, Da Re B, Rubinato E, Bobbo M, Barbi E
BMC Pediatr 2022 Dec 24;22(1):734. doi: 10.1186/s12887-022-03804-2. PMID: 36566191Free PMC Article
Bertino F, Trofimova AV, Gilyard SN, Hawkins CM
Pediatr Radiol 2021 Jun;51(7):1162-1184. Epub 2021 Apr 16 doi: 10.1007/s00247-021-04968-2. PMID: 33860862
Goldenberg P
Pediatr Ann 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. PMID: 29750287

Diagnosis

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Lu N, Kacin AJ, Shaffer AD, Stapleton AL
Otolaryngol Head Neck Surg 2023 Oct;169(4):1012-1019. Epub 2023 Mar 23 doi: 10.1002/ohn.331. PMID: 36950877
Mede A, Chotai PN, Huh WJ, Tan M
J Surg Res 2023 May;285:197-204. Epub 2023 Jan 23 doi: 10.1016/j.jss.2022.12.026. PMID: 36696706
Bertino F, Trofimova AV, Gilyard SN, Hawkins CM
Pediatr Radiol 2021 Jun;51(7):1162-1184. Epub 2021 Apr 16 doi: 10.1007/s00247-021-04968-2. PMID: 33860862
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766

Therapy

Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
Lu N, Kacin AJ, Shaffer AD, Stapleton AL
Otolaryngol Head Neck Surg 2023 Oct;169(4):1012-1019. Epub 2023 Mar 23 doi: 10.1002/ohn.331. PMID: 36950877
Wang Z, Yan H, Ding Y, Gong Y, Ma Y, Yao W, Li K
J Pediatr Surg 2023 Jul;58(7):1337-1341. Epub 2023 Feb 15 doi: 10.1016/j.jpedsurg.2023.01.063. PMID: 36898877
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766

Prognosis

Slack JC, Putra J, Callahan MJ, Church AJ, Teot LA, Eng W, Perez-Atayde AR
Am J Surg Pathol 2023 Aug 1;47(8):915-925. Epub 2023 Jun 19 doi: 10.1097/PAS.0000000000002070. PMID: 37334821
Mede A, Chotai PN, Huh WJ, Tan M
J Surg Res 2023 May;285:197-204. Epub 2023 Jan 23 doi: 10.1016/j.jss.2022.12.026. PMID: 36696706
Perez-Atayde AR, Debelenko L, Al-Ibraheemi A, Eng W, Ruiz-Gutierrez M, O'Hare M, Croteau SE, Trenor CC 3rd, Boyer D, Balkin DM, Barclay SF, Hsi Dickie B, Liang MG, Chaudry G, Alomari AI, Mulliken JB, Adams DM, Kurek KC, Fishman SJ, Kozakewich HPW
Am J Surg Pathol 2022 Jul 1;46(7):963-976. Epub 2022 Apr 7 doi: 10.1097/PAS.0000000000001898. PMID: 35385405
Bagga B, Goyal A, Das A, Bhalla AS, Kandasamy D, Singhal M, Kairo A
J Vasc Surg Venous Lymphat Disord 2021 Jan;9(1):209-219.e2. Epub 2020 Jul 9 doi: 10.1016/j.jvsv.2020.03.011. PMID: 32653406
Kulungowski AM, Schook CC, Alomari AI, Vogel AM, Mulliken JB, Fishman SJ
J Pediatr Surg 2011 Jun;46(6):1214-21. doi: 10.1016/j.jpedsurg.2011.03.056. PMID: 21683225

Clinical prediction guides

Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP
Int J Med Sci 2023;20(11):1377-1385. Epub 2023 Sep 4 doi: 10.7150/ijms.86773. PMID: 37790845Free PMC Article
Yan J, Xie C, Chen Y
J Pediatr Surg 2023 Sep;58(9):1762-1769. Epub 2023 Feb 21 doi: 10.1016/j.jpedsurg.2023.02.041. PMID: 36931944
Wang Z, Yan H, Ding Y, Gong Y, Ma Y, Yao W, Li K
J Pediatr Surg 2023 Jul;58(7):1337-1341. Epub 2023 Feb 15 doi: 10.1016/j.jpedsurg.2023.01.063. PMID: 36898877
Wang H, Xie C, Lin W, Zhou J, Yang W, Guo Z
Ann Surg 2023 Oct 1;278(4):e870-e875. Epub 2023 Feb 24 doi: 10.1097/SLA.0000000000005832. PMID: 36825502Free PMC Article
Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591

Recent systematic reviews

Sun J, Wang C, Li J, Song D, Guo L
Braz J Otorhinolaryngol 2023 Jul-Aug;89(4):101285. Epub 2023 Jun 29 doi: 10.1016/j.bjorl.2023.101285. PMID: 37423005Free PMC Article
Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262
Tonni G, Granese R, Martins Santana EF, Parise Filho JP, Bottura I, Borges Peixoto A, Giacobbe A, Azzerboni A, Araujo Júnior E
J Perinat Med 2017 Feb 1;45(2):149-165. doi: 10.1515/jpm-2016-0074. PMID: 27508950
Panamonta V, Wichajarn K, Chaikitpinyo A, Panamonta M, Pradubwong S, Chowchuen B
J Med Assoc Thai 2016 Aug;99 Suppl 5:S187-93. PMID: 29906080
D'Antonio F, Khalil A, Zidere V, Carvalho JS
Ultrasound Obstet Gynecol 2016 Apr;47(4):423-32. Epub 2016 Mar 16 doi: 10.1002/uog.15805. PMID: 26643657

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