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Peripheral pulmonary artery stenosis

MedGen UID:
138014
Concept ID:
C0345030
Disease or Syndrome; Finding
Synonyms: Peripheral pulmonary stenosis; Peripheral pulmonic stenosis
SNOMED CT: PPS - Peripheral pulmonary stenosis (253631001); Peripheral pulmonary artery stenosis (253631001)
 
HPO: HP:0004969

Definition

Stenosis of a peripheral branch of the pulmonary artery. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Peripheral pulmonary artery stenosis

Conditions with this feature

Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Cutis laxa, autosomal recessive, type 1A
MedGen UID:
78663
Concept ID:
C0268351
Disease or Syndrome
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Encephalocraniocutaneous lipomatosis
MedGen UID:
140807
Concept ID:
C0406612
Congenital Abnormality
Encephalocraniocutaneous lipomatosis (ECCL) comprises a spectrum of predominantly congenital anomalies. In its typical form, ECCL is characterized by congenital anomalies of the skin (nevus psiloliparus, patchy or streaky non-scarring alopecia, subcutaneous lipomas in the frontotemporal region, focal skin aplasia or hypoplasia on the scalp, and/or small nodular skin tags on the eyelids or between the outer canthus and tragus), eye (choristoma), and brain (in particular intracranial and spinal lipomas). To a much lesser degree, the bones and the heart can be affected. About 40% of affected individuals have bilateral abnormalities of the skin or the eyes. About one third of affected individuals have normal cognitive development, another one third have mild developmental delay (DD) or intellectual disability (ID), and the final one third have severe or unspecified DD/ID. Half of individuals have seizures. Affected individuals are at an increased (i.e., above the general population) risk of developing brain tumors, particularly low-grade gliomas such as pilocytic astrocytomas. There is evidence that oculoectodermal syndrome (OES) may constitute a clinical spectrum with ECCL, with OES on the mild end and ECCL on the more severe end of the spectrum.
CHIME syndrome
MedGen UID:
341214
Concept ID:
C1848392
Disease or Syndrome
CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).
Alagille syndrome due to a NOTCH2 point mutation
MedGen UID:
341844
Concept ID:
C1857761
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.
Deafness, congenital heart defects, and posterior embryotoxon
MedGen UID:
355614
Concept ID:
C1866053
Disease or Syndrome
Alagille syndrome due to a JAG1 point mutation
MedGen UID:
365434
Concept ID:
C1956125
Disease or Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.
Syndactyly-telecanthus-anogenital and renal malformations syndrome
MedGen UID:
394424
Concept ID:
C2678045
Disease or Syndrome
Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function.
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
MedGen UID:
442566
Concept ID:
C2750804
Disease or Syndrome
LTBP4-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective tissue disorder such as inguinal hernias and hollow visceral diverticula (e.g., intestine, bladder). Other manifestations can include pyloric stenosis, diaphragmatic hernia, rectal prolapse, gastrointestinal elongation/tortuosity, cardiovascular abnormality, pulmonary hypertension, hypotonia and frequent pulmonary infections. Bladder diverticula and hydronephrosis are common. Early demise has been associated with pulmonary emphysema.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Cutis laxa, autosomal dominant 1
MedGen UID:
478169
Concept ID:
C3276539
Disease or Syndrome
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Cranioectodermal dysplasia 3
MedGen UID:
481437
Concept ID:
C3279807
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
Hyperphosphatasia with intellectual disability syndrome 2
MedGen UID:
766551
Concept ID:
C3553637
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2) is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of hyperphosphatasia with impaired intellectual development syndrome, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Noonan syndrome-like disorder with loose anagen hair 2
MedGen UID:
1376945
Concept ID:
C4479577
Disease or Syndrome
An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.
Developmental delay with or without intellectual impairment or behavioral abnormalities
MedGen UID:
1794214
Concept ID:
C5562004
Disease or Syndrome
Developmental delay with or without intellectual impairment or behavioral abnormalities (DDIB) is an autosomal dominant disorder with a nonspecific phenotype of developmental delay. Additional features may include neonatal feeding problems, hypotonia, and dysmorphic facial features (Dulovic-Mahlow et al., 2019; van Woerden et al., 2021).

Professional guidelines

PubMed

Kim CW, Aronow WS, Dutta T, Spevack DM, Frishman WH
Cardiol Rev 2021 May-Jun 01;29(3):115-119. doi: 10.1097/CRD.0000000000000300. PMID: 32053544
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article
Trivedi KR, Benson LN
J Interv Cardiol 2003 Apr;16(2):171-88. doi: 10.1046/j.1540-8183.2003.08031.x. PMID: 12768922

Recent clinical studies

Etiology

Ozaki D, Endo H, Tashiro R, Sugimura K, Tatebe S, Yasuda S, Tomata Y, Endo T, Tominaga K, Niizuma K, Fujimura M, Tominaga T
Cerebrovasc Dis 2022;51(3):282-287. Epub 2021 Oct 28 doi: 10.1159/000519717. PMID: 34710878
Al-Khaldi A, Alsahari A, Alotay A, Momenah T, Alfonso JJ
Ann Thorac Surg 2022 May;113(5):1563-1568. Epub 2021 Apr 1 doi: 10.1016/j.athoracsur.2021.03.059. PMID: 33811885
Martin E, Mainwaring RD, Collins RT 2nd, MacMillen KL, Hanley FL
Semin Thorac Cardiovasc Surg 2020 Winter;32(4):973-979. Epub 2020 Jan 17 doi: 10.1053/j.semtcvs.2020.01.003. PMID: 31958550
Collins RT 2nd
Curr Opin Pediatr 2018 Oct;30(5):609-615. doi: 10.1097/MOP.0000000000000664. PMID: 30045083
Mainwaring RD, Hanley FL
Semin Thorac Cardiovasc Surg 2017 Summer;29(2):198-205. Epub 2017 May 17 doi: 10.1053/j.semtcvs.2017.05.001. PMID: 28823329

Diagnosis

Felmly LM, Mainwaring RD, Collins RT, Lechich K, Martin E, Ma M, Hanley FL
J Thorac Cardiovasc Surg 2023 Apr;165(4):1493-1502.e2. Epub 2022 Aug 10 doi: 10.1016/j.jtcvs.2022.07.037. PMID: 36088147
Martin E, Mainwaring RD, Collins RT 2nd, MacMillen KL, Hanley FL
Semin Thorac Cardiovasc Surg 2020 Winter;32(4):973-979. Epub 2020 Jan 17 doi: 10.1053/j.semtcvs.2020.01.003. PMID: 31958550
Bang OY, Chung JW, Kim DH, Won HH, Yeon JY, Ki CS, Shin HJ, Kim JS, Hong SC, Kim DK, Koizumi A
Transl Stroke Res 2020 Aug;11(4):580-589. Epub 2019 Oct 24 doi: 10.1007/s12975-019-00743-6. PMID: 31650369
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article
Kreutzer J, Landzberg MJ, Preminger TJ, Mandell VS, Treves ST, Reid LM, Lock JE
Circulation 1996 Apr 1;93(7):1417-23. doi: 10.1161/01.cir.93.7.1417. PMID: 8641032

Therapy

Mainwaring RD, Hanley FL
Semin Thorac Cardiovasc Surg 2017 Summer;29(2):198-205. Epub 2017 May 17 doi: 10.1053/j.semtcvs.2017.05.001. PMID: 28823329
Mainwaring RD, Hanley FL
Semin Thorac Cardiovasc Surg 2016 Summer;28(2):418-424. Epub 2016 Jul 18 doi: 10.1053/j.semtcvs.2016.07.003. PMID: 28043454
Hallbergson A, Esch JJ, Tran TX, Lock JE, Marshall AC
Cardiol Young 2016 Oct;26(7):1319-26. Epub 2015 Dec 28 doi: 10.1017/S1047951115002516. PMID: 26707181
Cunningham JW, McElhinney DB, Gauvreau K, Bergersen L, Lacro RV, Marshall AC, Smoot L, Lock JE
Circ Cardiovasc Interv 2013 Aug;6(4):460-7. Epub 2013 Aug 13 doi: 10.1161/CIRCINTERVENTIONS.112.000061. PMID: 23941859
Monge MC, Mainwaring RD, Sheikh AY, Punn R, Reddy VM, Hanley FL
J Thorac Cardiovasc Surg 2013 Feb;145(2):476-81. Epub 2012 Dec 8 doi: 10.1016/j.jtcvs.2012.09.102. PMID: 23228407

Prognosis

Lan IS, Yang W, Feinstein JA, Kreutzer J, Collins RT 2nd, Ma M, Adamson GT, Marsden AL
J Am Heart Assoc 2022 Mar 15;11(6):e023532. Epub 2022 Mar 5 doi: 10.1161/JAHA.121.023532. PMID: 35253446Free PMC Article
Al-Khaldi A, Abuzaid AD, Tamimi O, Alsahari A, Alotay A, Momenah T, Alfonso JJ
J Thorac Cardiovasc Surg 2022 Apr;163(4):1448-1457.e6. Epub 2021 Sep 9 doi: 10.1016/j.jtcvs.2021.07.057. PMID: 34649717
Monge MC, Mainwaring RD, Sheikh AY, Punn R, Reddy VM, Hanley FL
J Thorac Cardiovasc Surg 2013 Feb;145(2):476-81. Epub 2012 Dec 8 doi: 10.1016/j.jtcvs.2012.09.102. PMID: 23228407
Kreutzer J, Landzberg MJ, Preminger TJ, Mandell VS, Treves ST, Reid LM, Lock JE
Circulation 1996 Apr 1;93(7):1417-23. doi: 10.1161/01.cir.93.7.1417. PMID: 8641032
Beekman RH, Rocchini AP, Rosenthal A
Cardiol Clin 1989 May;7(2):331-40. PMID: 2659178

Clinical prediction guides

Lee JD, Richter J, Pfaller MR, Szafron JM, Menon K, Zanoni A, Ma MR, Feinstein JA, Kreutzer J, Marsden AL, Schiavazzi DE
Int J Numer Method Biomed Eng 2024 May;40(5):e3820. Epub 2024 Mar 27 doi: 10.1002/cnm.3820. PMID: 38544354
Tamura Y, Tamura Y, Shigeta A, Hosokawa K, Taniguchi Y, Inami T, Adachi S, Tsujino I, Nakanishi N, Sato K, Sakamoto J, Tanabe N, Takama N, Nakamura K, Kubota K, Komura N, Kato S, Yamashita J, Takei M, Joho S, Ishii S, Takemura R, Sugimura K, Tatsumi K
Eur Respir J 2023 Dec;62(6) Epub 2023 Dec 21 doi: 10.1183/13993003.00763-2023. PMID: 38061784Free PMC Article
Lan IS, Yang W, Feinstein JA, Kreutzer J, Collins RT 2nd, Ma M, Adamson GT, Marsden AL
J Am Heart Assoc 2022 Mar 15;11(6):e023532. Epub 2022 Mar 5 doi: 10.1161/JAHA.121.023532. PMID: 35253446Free PMC Article
Ozaki D, Endo H, Tashiro R, Sugimura K, Tatebe S, Yasuda S, Tomata Y, Endo T, Tominaga K, Niizuma K, Fujimura M, Tominaga T
Cerebrovasc Dis 2022;51(3):282-287. Epub 2021 Oct 28 doi: 10.1159/000519717. PMID: 34710878
Yang W, Feinstein JA, Vignon-Clementel IE
Biomech Model Mechanobiol 2016 Oct;15(5):1345-53. Epub 2016 Feb 3 doi: 10.1007/s10237-016-0766-5. PMID: 26843118

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