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Pulmonary valve insufficiency

MedGen UID:
11031
Concept ID:
C0034088
Pathologic Function
Synonym: Pulmonary insufficiency
SNOMED CT: PR - Pulmonary regurgitation (91434003); PVR - Pulmonary regurgitation (91434003); Pulmonic insufficiency (91434003); Pulmonic valve regurgitation (91434003); Pulmonic valve insufficiency (91434003); Pulmonary valve insufficiency (91434003); Pulmonary valve incompetence (91434003); Pulmonic regurgitation (91434003); Pulmonary valve regurgitation (91434003); Pulmonic valve incompetence (91434003)
 
HPO: HP:0010444
Monarch Initiative: MONDO:0001927

Definition

The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. [from HPO]

Conditions with this feature

Mucopolysaccharidosis type 6
MedGen UID:
44514
Concept ID:
C0026709
Disease or Syndrome
Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).
Osteogenesis imperfecta, perinatal lethal
MedGen UID:
75673
Concept ID:
C0268358
Congenital Abnormality
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Lethal Larsen-like syndrome
MedGen UID:
343375
Concept ID:
C1855535
Disease or Syndrome
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.
Infantile nephronophthisis
MedGen UID:
355574
Concept ID:
C1865872
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
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).
Primary ciliary dyskinesia 16
MedGen UID:
462810
Concept ID:
C3151460
Disease or Syndrome
Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).
Cutis laxa, autosomal recessive, type 1B
MedGen UID:
482428
Concept ID:
C3280798
Disease or Syndrome
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
Asphyxiating thoracic dystrophy 1
MedGen UID:
1648057
Concept ID:
C4551856
Congenital Abnormality
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). Genetic Heterogeneity of Asphyxiating Thoracic Dysplasia SRTD1 has been mapped to chromosome 15q13. See also SRTD2 (611263), caused by mutation in the IFT80 gene (611177); SRTD3 (613091), caused by mutation in the DYNC2H1 gene (603297); SRTD4 (613819), caused by mutation in the TTC21B gene (612014); SRTD5 (614376), caused by mutation in the WDR19 gene (608151); SRTD6 (263520), caused by mutation in the NEK1 gene (604588); SRTD7 (614091), caused by mutation in the WDR35 gene (613602); SRTD8 (615503), caused by mutation in the WDR60 gene (615462); SRTD9 (266920), caused by mutation in the IFT140 gene (614620); SRTD10 (615630), caused by mutation in the IFT172 gene (607386); SRTD11 (615633), caused by mutation in the WDR34 gene (613363); SRTD13 (616300), caused by mutation in the CEP120 gene (613446); SRTD14 (616546), caused by mutation in the KIAA0586 gene (610178); SRTD15 (617088), caused by mutation in the DYNC2LI1 gene (617083); SRTD16 (617102), caused by mutation in the IFT52 gene (617094); SRTD17 (617405), caused by mutation in the TCTEX1D2 gene (617353); SRTD18 (617866), caused by mutation in the IFT43 gene (614068); SRTD19 (617895), caused by mutation in the IFT81 gene (605489); SRTD20 (617925), caused by mutation in the INTU gene (610621); and SRTD21 (619479), caused by mutation in the KIAA0753 gene (617112). See also SRTD12 (Beemer-Langer syndrome; 269860).
Marbach-Rustad progeroid syndrome
MedGen UID:
1784907
Concept ID:
C5543388
Disease or Syndrome
Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).
Cardiomyopathy, familial restrictive, 6
MedGen UID:
1780781
Concept ID:
C5543638
Disease or Syndrome
Familial restrictive cardiomyopathy-6 (RCM6) is characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death (Louw et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial restrictive cardiomyopathy, see RCM1 (115210).
Cardiac valvular dysplasia 2
MedGen UID:
1823999
Concept ID:
C5774226
Disease or Syndrome
Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020). For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).

Professional guidelines

PubMed

Whiteside W, Tretter JT, Aboulhosn J, Aldoss O, Armstrong AK, Bocks ML, Gillespie MJ, Jones TK, Martin MH, Meadows JJ, Metcalf CM, Turner ME, Zellers T, Goldstein BH
Circ Cardiovasc Interv 2017 Sep;10(9) doi: 10.1161/CIRCINTERVENTIONS.116.004730. PMID: 28851718

Recent clinical studies

Therapy

Nelson JS, Bacha E, Porras D, Fuller S
Semin Thorac Cardiovasc Surg 2023 Summer;35(2):324-332. Epub 2023 Jan 3 doi: 10.1053/j.semtcvs.2022.11.009. PMID: 36599796
Kwon MH, Baird CW
Semin Thorac Cardiovasc Surg 2023 Spring;35(1):94-104. Epub 2022 Feb 6 doi: 10.1053/j.semtcvs.2022.01.006. PMID: 35139432
Cleveland JD, Wells WJ
Semin Thorac Cardiovasc Surg 2022 Winter;34(4):1256-1261. Epub 2022 May 16 doi: 10.1053/j.semtcvs.2022.05.006. PMID: 35584775
Van den Eynde J, Sá MPBO, Vervoort D, Roever L, Meyns B, Budts W, Gewillig M, Ruhparwar A, Zhigalov K, Weymann A
Ann Thorac Surg 2022 Mar;113(3):1036-1046. Epub 2020 Dec 27 doi: 10.1016/j.athoracsur.2020.11.040. PMID: 33378694
Salavitabar A, Flynn P, Holzer RJ
Curr Opin Cardiol 2017 Nov;32(6):655-662. doi: 10.1097/HCO.0000000000000444. PMID: 28723838

Prognosis

Boutsikou M, Tzifa A
Hellenic J Cardiol 2022 Sep-Oct;67:59-65. Epub 2022 Jul 19 doi: 10.1016/j.hjc.2022.06.004. PMID: 35863726
van der Ven JPG, van den Bosch E, Bogers AJCC, Helbing WA
F1000Res 2019;8 Epub 2019 Aug 29 doi: 10.12688/f1000research.17174.1. PMID: 31508203Free PMC Article
McElhinney DB, Sondergaard L, Armstrong AK, Bergersen L, Padera RF, Balzer DT, Lung TH, Berger F, Zahn EM, Gray RG, Hellenbrand WE, Kreutzer J, Eicken A, Jones TK, Ewert P
J Am Coll Cardiol 2018 Dec 4;72(22):2717-2728. doi: 10.1016/j.jacc.2018.09.039. PMID: 30497557
Coffey S, Rayner J, Newton J, Prendergast BD
Int J Clin Pract 2014 Oct;68(10):1221-6. Epub 2014 Sep 2 doi: 10.1111/ijcp.12485. PMID: 25269950
Apitz C, Webb GD, Redington AN
Lancet 2009 Oct 24;374(9699):1462-71. Epub 2009 Aug 14 doi: 10.1016/S0140-6736(09)60657-7. PMID: 19683809

Clinical prediction guides

Hascoët S, Bentham JR, Giugno L, Betrián-Blasco P, Kempny A, Houeijeh A, Baho H, Sharma SR, Jones MI, Biernacka EK, Combes N, Georgiev S, Bouvaist H, Martins JD, Kantzis M, Turner M, Schubert S, Jalal Z, Butera G, Malekzadeh-Milani S, Valdeolmillos E, Karsenty C, Ödemiş E, Aldebert P, Haas NA, Khatib I, Wåhlander H, Gaio G, Mendoza A, Arif S, Castaldi B, Dohlen G, Carere RG, Del Cerro-Marin MJ, Kitzmüller E, Hermuzi A, Carminati M, Guérin P, Tengler A, Fraisse A; EUROPULMS3 investigators
Eur Heart J 2024 Jan 14;45(3):198-210. doi: 10.1093/eurheartj/ehad663. PMID: 37874971
Suc G, Cachier A, Hentic O, Bazire B, Sannier A, Delhomme C, Nataf P, Laschet J, Deschamps L, Garbarz E, Ou P, Caligiuri G, Iung B, Ruszniewski P, de Mestier L, Arangalage D
Heart 2023 Dec 20;110(2):132-139. doi: 10.1136/heartjnl-2023-322945. PMID: 37463732
Kovacs AH, Lebovic G, Raptis S, Blais S, Caldarone CA, Dahdah N, Dallaire F, Drolet C, Grewal J, Hancock Friesen CL, Hickey E, Karur GR, Khairy P, Leonardi B, Keir M, McCrindle BW, Nadeem SN, Ng MY, Shah AH, Tham EB, Therrien J, Warren AE, Vonder Muhll IF, Van de Bruaene A, Yamamura K, Farkouh ME, Wald RM
J Am Coll Cardiol 2023 May 16;81(19):1937-1950. doi: 10.1016/j.jacc.2023.03.385. PMID: 37164527
van der Ven JPG, van den Bosch E, Bogers AJCC, Helbing WA
F1000Res 2019;8 Epub 2019 Aug 29 doi: 10.12688/f1000research.17174.1. PMID: 31508203Free PMC Article
Tsang FH, Wong SJ, Cheung YF
Asian Cardiovasc Thorac Ann 2016 Jan;24(1):5-11. Epub 2015 Nov 14 doi: 10.1177/0218492315617631. PMID: 26567554

Recent systematic reviews

Van den Eynde J, Derdeyn E, Schuermans A, Shivaram P, Budts W, Danford DA, Kutty S
J Am Heart Assoc 2022 Apr 5;11(7):e024036. Epub 2022 Mar 18 doi: 10.1161/JAHA.121.024036. PMID: 35301867Free PMC Article
Van den Eynde J, Sá MPBO, Vervoort D, Roever L, Meyns B, Budts W, Gewillig M, Ruhparwar A, Zhigalov K, Weymann A
Ann Thorac Surg 2022 Mar;113(3):1036-1046. Epub 2020 Dec 27 doi: 10.1016/j.athoracsur.2020.11.040. PMID: 33378694
Van den Eynde J, Callahan CP, Lo Rito M, Hussein N, Carvajal H, Guariento A, Ruhparwar A, Weymann A, Budts W, Gewillig M, Sá MP, Kutty S
J Am Heart Assoc 2021 Dec 21;10(24):e022909. Epub 2021 Dec 7 doi: 10.1161/JAHA.121.022909. PMID: 34873914Free PMC Article
Mongeon FP, Ben Ali W, Khairy P, Bouhout I, Therrien J, Wald RM, Dallaire F, Bernier PL, Poirier N, Dore A, Silversides C, Marelli A
Can J Cardiol 2019 Dec;35(12):1772-1783. Epub 2019 Aug 29 doi: 10.1016/j.cjca.2019.08.031. PMID: 31813508
Ferraz Cavalcanti PE, Sá MP, Santos CA, Esmeraldo IM, de Escobar RR, de Menezes AM, de Azevedo OM Jr, de Vasconcelos Silva FP, Lins RF, Lima Rde C
J Am Coll Cardiol 2013 Dec 10;62(23):2227-43. Epub 2013 Sep 28 doi: 10.1016/j.jacc.2013.04.107. PMID: 24080109

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