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Pulmonary artery stenosis

MedGen UID:
65965
Concept ID:
C0238397
Anatomical Abnormality
Synonyms: Artery Stenoses, Pulmonary; Artery Stenosis, Pulmonary; Pulmonary Artery Stenoses; Pulmonary Artery Stenosis; Stenoses, Pulmonary Artery; Stenosis, Pulmonary Artery
SNOMED CT: Pulmonary artery stenosis (95441000)
 
HPO: HP:0004415

Definition

An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [from HPO]

Conditions with this feature

Supravalvar aortic stenosis
MedGen UID:
2001
Concept ID:
C0003499
Disease or Syndrome
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.\n\nThe severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Down syndrome
MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
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).
Autosomal recessive omodysplasia
MedGen UID:
340513
Concept ID:
C1850318
Disease or Syndrome
Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). Genetic Heterogeneity of Omodysplasia Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).
Noonan syndrome 2
MedGen UID:
344290
Concept ID:
C1854469
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.
Mowat-Wilson syndrome
MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.
Arterial tortuosity syndrome
MedGen UID:
347942
Concept ID:
C1859726
Disease or Syndrome
Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).
Compton-North congenital myopathy
MedGen UID:
393406
Concept ID:
C2675527
Disease or Syndrome
Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).
SERKAL syndrome
MedGen UID:
394528
Concept ID:
C2678492
Disease or Syndrome
Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
444022
Concept ID:
C2931296
Disease or Syndrome
This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait.
Alveolar capillary dysplasia with pulmonary venous misalignment
MedGen UID:
755478
Concept ID:
C2960310
Congenital Abnormality
Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).
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).
Ventricular septal defect 3
MedGen UID:
482415
Concept ID:
C3280785
Disease or Syndrome
Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see 217095), and hypoplastic left heart syndrome (HLHS2; 614435). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).
Primary ciliary dyskinesia 20
MedGen UID:
761920
Concept ID:
C3540844
Disease or Syndrome
CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
X-linked intellectual disability, van Esch type
MedGen UID:
930741
Concept ID:
C4305072
Disease or Syndrome
Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).
Immunodeficiency 49
MedGen UID:
934623
Concept ID:
C4310656
Disease or Syndrome
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
Intellectual disability, X-linked, syndromic, 35
MedGen UID:
1392054
Concept ID:
C4478383
Disease or Syndrome
Adams-Oliver syndrome 1
MedGen UID:
1635567
Concept ID:
C4551482
Disease or Syndrome
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.\n\nMost people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.\n\nAbnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.\n\nSome affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.\n\nIn some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.
Developmental and epileptic encephalopathy 111
MedGen UID:
1846991
Concept ID:
C5882690
Disease or Syndrome
Developmental and epileptic encephalopathy-111 (DEE111) is an autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Most patients have macrocephaly. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Additional features may include feeding difficulties, poor vision with ocular anomalies, congenital cardiac abnormalities, and recurrent infections associated with neutropenia. Death in early childhood may occur (Ververi et al., 2023). For a discussion of genetic heterogeneity of DEE, see 308350.
Seckel syndrome 11
MedGen UID:
1855399
Concept ID:
C5935595
Disease or Syndrome
Seckel syndrome-11 (SCKL11) is characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities (Li et al., 2024). For a general phenotypic description and discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).

Professional guidelines

PubMed

Hiremath G, Qureshi AM, Meadows J, Aggarwal V
Trends Cardiovasc Med 2021 Apr;31(3):179-184. Epub 2020 Feb 10 doi: 10.1016/j.tcm.2020.02.001. PMID: 32081565
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

Recent clinical studies

Etiology

Kim DH, Gilyard S, Suh R
Tech Vasc Interv Radiol 2023 Dec;26(4):100926. Epub 2023 Oct 22 doi: 10.1016/j.tvir.2023.100926. PMID: 38123291
Szeliga J, Kołcz J, Piwowarczyk B, Góreczny S
Kardiol Pol 2023;81(11):1151-1152. Epub 2023 Sep 18 doi: 10.33963/v.kp.97211. PMID: 37718587
Zarantonello F, Sella N, Pettenuzzo T, Andreatta G, Dell'Amore A, Giraudo C, Rea F, Navalesi P
Am J Respir Crit Care Med 2021 Nov 1;204(9):1100-1102. doi: 10.1164/rccm.202101-0229IM. PMID: 34014807
Fender EA, Widmer RJ, Knavel Koepsel EM, Welby JP, Kern R, Peikert T, Bjarnason H, Holmes DR Jr
Catheter Cardiovasc Interv 2019 Nov 15;94(6):878-885. Epub 2019 Feb 21 doi: 10.1002/ccd.28152. PMID: 30790443
Barnes ME, Mitchell ME, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2011;14(1):67-74. doi: 10.1053/j.pcsu.2011.01.017. PMID: 21444051

Diagnosis

Polak M, Grabka M, Wróbel W, Woźniak-Skowerska I, Mizia-Stec K
Kardiol Pol 2021;79(9):1046-1047. Epub 2021 Jul 8 doi: 10.33963/KP.a2021.0059. PMID: 34235716
Betrián Blasco P, Marti Aguasca G, Ferrer Menduiña Q
Rev Esp Cardiol (Engl Ed) 2020 Jul;73(7):578. Epub 2019 Dec 10 doi: 10.1016/j.rec.2019.10.014. PMID: 31831301
Zablah JE, Morgan GJ
Interv Cardiol Clin 2019 Jan;8(1):33-46. Epub 2018 Oct 25 doi: 10.1016/j.iccl.2018.08.005. PMID: 30449420
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
Barnes ME, Mitchell ME, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2011;14(1):67-74. doi: 10.1053/j.pcsu.2011.01.017. PMID: 21444051

Therapy

Hermenson JL, Anagnostopoulos PV
World J Pediatr Congenit Heart Surg 2024 Jul;15(4):430-431. doi: 10.1177/21501351241249111. PMID: 39056453
Kim DH, Gilyard S, Suh R
Tech Vasc Interv Radiol 2023 Dec;26(4):100926. Epub 2023 Oct 22 doi: 10.1016/j.tvir.2023.100926. PMID: 38123291
Allen WL, Fritz AV, Martin AK
Mayo Clin Proc 2023 Dec;98(12):1753-1754. doi: 10.1016/j.mayocp.2023.06.012. PMID: 38043991
Zarantonello F, Sella N, Pettenuzzo T, Andreatta G, Dell'Amore A, Giraudo C, Rea F, Navalesi P
Am J Respir Crit Care Med 2021 Nov 1;204(9):1100-1102. doi: 10.1164/rccm.202101-0229IM. PMID: 34014807
Fender EA, Widmer RJ, Knavel Koepsel EM, Welby JP, Kern R, Peikert T, Bjarnason H, Holmes DR Jr
Catheter Cardiovasc Interv 2019 Nov 15;94(6):878-885. Epub 2019 Feb 21 doi: 10.1002/ccd.28152. PMID: 30790443

Prognosis

He F, Wang X, Hua L, Guo T
Biomed Mater Eng 2023;34(3):235-246. doi: 10.3233/BME-221418. PMID: 36120760
Zarantonello F, Sella N, Pettenuzzo T, Andreatta G, Dell'Amore A, Giraudo C, Rea F, Navalesi P
Am J Respir Crit Care Med 2021 Nov 1;204(9):1100-1102. doi: 10.1164/rccm.202101-0229IM. PMID: 34014807
van Broekhoven I, Kroft LJM, van der Palen RLF
Heart 2020 Jun;106(12):891-950. doi: 10.1136/heartjnl-2019-316504. PMID: 32461258
Gorospe L, Jover-Díaz R, Muñoz-Molina GM
Asian Cardiovasc Thorac Ann 2018 Feb;26(2):164-165. Epub 2018 Feb 15 doi: 10.1177/0218492318759351. PMID: 29448832
Barnes ME, Mitchell ME, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2011;14(1):67-74. doi: 10.1053/j.pcsu.2011.01.017. PMID: 21444051

Clinical prediction guides

Murai Y, Matano F, Kubota A, Nounaka Y, Ishisaka E, Shirokane K, Koketsu K, Nakae R, Tamaki T
J Nippon Med Sch 2024;91(2):140-145. doi: 10.1272/jnms.JNMS.2024_91-215. PMID: 38777780
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
Bandyopadhyay D, Humbert M
Curr Opin Pulm Med 2020 Sep;26(5):582-590. doi: 10.1097/MCP.0000000000000701. PMID: 32740377
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Gorospe L, Jover-Díaz R, Muñoz-Molina GM
Asian Cardiovasc Thorac Ann 2018 Feb;26(2):164-165. Epub 2018 Feb 15 doi: 10.1177/0218492318759351. PMID: 29448832

Recent systematic reviews

Joosen RS, Frissen JPB, van den Hoogen A, Krings GJ, Voskuil M, Slieker MG, Breur JMPJ
Cardiol Young 2024 Mar;34(3):473-482. Epub 2024 Jan 23 doi: 10.1017/S1047951124000015. PMID: 38258453
Kim AY, Woo W, Saxena A, Tanidir IC, Yao A, Kurniawati Y, Thakur V, Shin YR, Shin JI, Jung JW, Barron DJ; International HLHS research network collaborators
Cardiol Young 2024 Mar;34(3):659-666. Epub 2023 Sep 19 doi: 10.1017/S1047951123002986. PMID: 37724575
Yang S, Wang J, Li J, Huang K, Yang Y
J Int Med Res 2021 May;49(5):3000605211010073. doi: 10.1177/03000605211010073. PMID: 33947262Free PMC Article
Kumar N, Hussain N, Kumar J, Essandoh MK, Bhatt AM, Awad H, Perez WJ, Whitson BA, Ganapathi AM, Mokadam NA, Gorelik L, Turner K, Iyer MH
Transplantation 2021 Apr 1;105(4):711-722. doi: 10.1097/TP.0000000000003407. PMID: 33760790
Zhou Y, Shao L, Ruan W, Jin J, Xu H, Ying K, Wu X
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