U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chylothorax

MedGen UID:
40305
Concept ID:
C0008733
Disease or Syndrome
Synonym: Chylothoraces
SNOMED CT: Chylothorax (83035003)
 
HPO: HP:0010310

Definition

Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Chylothorax

Conditions with this feature

Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.
Distichiasis-lymphedema syndrome
MedGen UID:
75566
Concept ID:
C0265345
Disease or Syndrome
Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.
Congenital pulmonary lymphangiectasia
MedGen UID:
340355
Concept ID:
C1849554
Congenital Abnormality
Pulmonary lymphangiectasia is a rare congenital vascular dysplasia characterized by an increased number of dilated pulmonary lymphatics in the subpleural, peribronchial, and interlobular septa. Respiratory distress is usually noted immediately after birth (summary by Stevenson et al., 2006).
CBL-related disorder
MedGen UID:
462153
Concept ID:
C3150803
Disease or Syndrome
Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010).
Lymphatic malformation 6
MedGen UID:
908120
Concept ID:
C4225184
Disease or Syndrome
Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPHM6, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema, but childhood onset of lymphedema with or without systemic involvement also occurs. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100.
Lymphatic malformation 7
MedGen UID:
934596
Concept ID:
C4310629
Disease or Syndrome
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.
Noonan syndrome 1
MedGen UID:
1638960
Concept ID:
C4551602
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Myopathy, epilepsy, and progressive cerebral atrophy
MedGen UID:
1759100
Concept ID:
C5436652
Disease or Syndrome
Myopathy, epilepsy, and progressive cerebral atrophy (MEPCA) is a severe autosomal recessive disorder with onset in utero or at birth. Affected individuals have hypotonia with respiratory or feeding difficulties apparent from birth and often associated with contractures of the large joints. There is little spontaneous movement: skeletal muscle biopsy and electrophysiologic studies are consistent with a myopathy or myasthenic disorder. Patients also develop refractory seizures with burst-suppression pattern or hypsarrhythmia on EEG. Brain imaging shows progressive cerebral atrophy and myelination defects. All patients reported to date died within the first year of life (summary by Schorling et al., 2017).
Congenital myopathy 2c, severe infantile, autosomal dominant
MedGen UID:
1840969
Concept ID:
C5830333
Disease or Syndrome
Congenital myopathy-2C (CMYP2C) is an autosomal dominant disorder of the skeletal muscle characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype. Some patients with heterozygous mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation (CMYP2A; 161800). The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (Ryan et al., 2001; Laing et al., 2009; Sanoudou and Beggs, 2001; Agrawal et al., 2004; Nowak et al., 2013; Sewry et al., 2019; Laitila and Wallgren-Pettersson, 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Professional guidelines

PubMed

Duletzke NT, Kiraly LN, Martindale RG
Nutr Clin Pract 2023 Jun;38(3):557-563. Epub 2023 Mar 20 doi: 10.1002/ncp.10973. PMID: 36938719
Agrawal A, Chaddha U, Kaul V, Desai A, Gillaspie E, Maldonado F
Chest 2022 Dec;162(6):1402-1412. Epub 2022 Jun 20 doi: 10.1016/j.chest.2022.06.012. PMID: 35738344
Samanidis G, Kourelis G, Bounta S, Kanakis M
Nutrients 2022 Apr 26;14(9) doi: 10.3390/nu14091803. PMID: 35565771Free PMC Article

Recent clinical studies

Etiology

Samanidis G, Kourelis G, Bounta S, Kanakis M
Nutrients 2022 Apr 26;14(9) doi: 10.3390/nu14091803. PMID: 35565771Free PMC Article
Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Kuthiroly S, Yesodharan D, Radhakrishnan N, Ganapathy A, Mannan AU, Hoffmann MM, Nampoothiri S
Indian J Pediatr 2021 Feb;88(2):147-153. Epub 2020 May 30 doi: 10.1007/s12098-020-03305-z. PMID: 32472350
Attar MA, Donn SM
Semin Fetal Neonatal Med 2017 Aug;22(4):234-239. Epub 2017 Mar 27 doi: 10.1016/j.siny.2017.03.005. PMID: 28351595
Stajich GV, Ashworth L
Neonatal Netw 2006 Sep-Oct;25(5):365-9. doi: 10.1891/0730-0832.25.5.365. PMID: 16989134

Diagnosis

Duletzke NT, Kiraly LN, Martindale RG
Nutr Clin Pract 2023 Jun;38(3):557-563. Epub 2023 Mar 20 doi: 10.1002/ncp.10973. PMID: 36938719
Agrawal A, Chaddha U, Kaul V, Desai A, Gillaspie E, Maldonado F
Chest 2022 Dec;162(6):1402-1412. Epub 2022 Jun 20 doi: 10.1016/j.chest.2022.06.012. PMID: 35738344
Rocha G, Arnet V, Soares P, Gomes AC, Costa S, Guerra P, Casanova J, Azevedo I
Pediatr Pulmonol 2021 Oct;56(10):3093-3105. Epub 2021 Aug 4 doi: 10.1002/ppul.25601. PMID: 34324269
Riley LE, Ataya A
Respir Med 2019 Oct;157:7-13. Epub 2019 Aug 22 doi: 10.1016/j.rmed.2019.08.014. PMID: 31454675
McGrath EE, Blades Z, Anderson PB
Respir Med 2010 Jan;104(1):1-8. Epub 2009 Sep 18 doi: 10.1016/j.rmed.2009.08.010. PMID: 19766473

Therapy

Samanidis G, Kourelis G, Bounta S, Kanakis M
Nutrients 2022 Apr 26;14(9) doi: 10.3390/nu14091803. PMID: 35565771Free PMC Article
Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Martucci N, Tracey M, Rocco G
Thorac Surg Clin 2015 Nov;25(4):523-8. Epub 2015 Sep 8 doi: 10.1016/j.thorsurg.2015.07.014. PMID: 26515952
Platis IE, Nwogu CE
Thorac Surg Clin 2006 Aug;16(3):209-14. doi: 10.1016/j.thorsurg.2006.05.011. PMID: 17004548
Stajich GV, Ashworth L
Neonatal Netw 2006 Sep-Oct;25(5):365-9. doi: 10.1891/0730-0832.25.5.365. PMID: 16989134

Prognosis

Rocha G, Arnet V, Soares P, Gomes AC, Costa S, Guerra P, Casanova J, Azevedo I
Pediatr Pulmonol 2021 Oct;56(10):3093-3105. Epub 2021 Aug 4 doi: 10.1002/ppul.25601. PMID: 34324269
Ferreiro L, Toubes ME, San José ME, Suárez-Antelo J, Golpe A, Valdés L
Expert Rev Respir Med 2020 Jan;14(1):51-66. Epub 2019 Nov 5 doi: 10.1080/17476348.2020.1684266. PMID: 31640432
Costa KM, Saxena AK
World J Pediatr 2018 Apr;14(2):110-115. Epub 2018 Mar 5 doi: 10.1007/s12519-018-0134-x. PMID: 29508361
Attar MA, Donn SM
Semin Fetal Neonatal Med 2017 Aug;22(4):234-239. Epub 2017 Mar 27 doi: 10.1016/j.siny.2017.03.005. PMID: 28351595
McGrath EE, Blades Z, Anderson PB
Respir Med 2010 Jan;104(1):1-8. Epub 2009 Sep 18 doi: 10.1016/j.rmed.2009.08.010. PMID: 19766473

Clinical prediction guides

Wang B, Feng Y, Guo Y, Kan Q, Zou Y, Wu Y, Zheng M, Cheng R
J Cardiothorac Surg 2022 Oct 27;17(1):276. doi: 10.1186/s13019-022-02009-z. PMID: 36303149Free PMC Article
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Nadolski G
Tech Vasc Interv Radiol 2016 Dec;19(4):286-290. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.008. PMID: 27993324
Lopez-Gutierrez JC, Tovar JA
Semin Pediatr Surg 2014 Oct;23(5):298-302. Epub 2014 Sep 4 doi: 10.1053/j.sempedsurg.2014.09.011. PMID: 25459015
Ryu JH, Doerr CH, Fisher SD, Olson EJ, Sahn SA
Chest 2003 Feb;123(2):623-7. doi: 10.1378/chest.123.2.623. PMID: 12576391

Recent systematic reviews

Santos LLD, Santos CLD, Hu NKT, Datrino LN, Tavares G, Tristão LS, Orlandini MF, Serafim MCA, Tustumi F
Braz J Cardiovasc Surg 2023 Oct 6;38(6):e20220326. doi: 10.21470/1678-9741-2022-0326. PMID: 37801640Free PMC Article
Sakran N, Parmar C, Ahmed S, Singhal R, Madhok B, Stier C, Chiappetta S, Mahawar K, Pouwels S; Global Bariatric Research Collaborative
Obes Surg 2022 Aug;32(8):2764-2771. Epub 2022 Jun 8 doi: 10.1007/s11695-022-06136-3. PMID: 35674980
Cox TP, Vance CJ, Daley SK, Papendieck C, McGregor H, Kuo P, Witte MH
J Vasc Surg Venous Lymphat Disord 2022 Sep;10(5):1192-1196.e3. Epub 2022 May 10 doi: 10.1016/j.jvsv.2022.03.017. PMID: 35561969Free PMC Article
Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Kim PH, Tsauo J, Shin JH
J Vasc Interv Radiol 2018 Feb;29(2):194-202.e4. Epub 2017 Dec 27 doi: 10.1016/j.jvir.2017.10.006. PMID: 29287962

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...