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Right ventricular hypertrophy

MedGen UID:
57981
Concept ID:
C0162770
Disease or Syndrome
Synonyms: Hypertrophies, Right Ventricular; Hypertrophy, Right Ventricular; Right Ventricular Hypertrophies; Right Ventricular Hypertrophy; Ventricular Hypertrophies, Right; Ventricular Hypertrophy, Right
SNOMED CT: RV hypertrophy (89792004); RVH - Right ventricular hypertrophy (89792004); Right ventricular hypertrophy (89792004)
 
HPO: HP:0001667

Definition

In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRight ventricular hypertrophy

Conditions with this feature

Langer-Giedion syndrome
MedGen UID:
6009
Concept ID:
C0023003
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
Autosomal recessive limb-girdle muscular dystrophy type 2C
MedGen UID:
98045
Concept ID:
C0410173
Disease or Syndrome
A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.
Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.
Arthrogryposis, renal dysfunction, and cholestasis 1
MedGen UID:
347219
Concept ID:
C1859722
Disease or Syndrome
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
NPHP3-related Meckel-like syndrome
MedGen UID:
382217
Concept ID:
C2673885
Disease or Syndrome
This autosomal recessive disorder is designated Meckel syndrome type 7 based on the classic phenotypic triad of (1) cystic renal disease; (2) a central nervous system abnormality, and (3) hepatic abnormalities, as defined by Meckel (1822), Salonen (1984), and Logan et al. (2011). According to these criteria, polydactyly is a variable feature. Herriot et al. (1991) and Al-Gazali et al. (1996) concluded that Dandy-Walker malformation can be the phenotypic manifestation of a central nervous system malformation in MKS. For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).
Developmental and epileptic encephalopathy, 39
MedGen UID:
414492
Concept ID:
C2751855
Disease or Syndrome
Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder was not classified as a primary leukodystrophy. The myelination defect was thought to stem from primary neuronal dysfunction due to impaired mitochondrial transport activity (summary by Wibom et al., 2009 and Falk et al., 2014). However, serial brain imaging in a patient with DEE39 by Kavanaugh et al. (2019) suggested that the mechanism of disease is consistent with a leukoaxonopathy type of leukodystrophy. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
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).
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).
Agenesis of the corpus callosum and congenital lymphedema
MedGen UID:
462237
Concept ID:
C3150887
Disease or Syndrome
Microcephaly-capillary malformation syndrome
MedGen UID:
481926
Concept ID:
C3280296
Disease or Syndrome
The defining clinical characteristics of the microcephaly-capillary malformation (MIC-CAP) syndrome are typically present at birth: microcephaly and generalized cutaneous capillary malformations (a few to hundreds of oval/circular macules or patches varying in size from 1-2 mm to several cm), hypoplastic distal phalanges of the hands and/or feet, early-onset intractable epilepsy, and profound developmental delay. Seizures, which can be focal, tonic, and complex partial and can include infantile spasms, appear to stabilize after age two years. Myoclonus of the limbs and eyelids is common; other abnormal movements (dyskinetic, choreiform) may be seen. To date, the diagnosis has been confirmed in 18 individuals from 15 families.
Adams-Oliver syndrome 5
MedGen UID:
863407
Concept ID:
C4014970
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Syndromic X-linked intellectual disability 34
MedGen UID:
902184
Concept ID:
C4225417
Mental or Behavioral Dysfunction
X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).
Pulmonary hypertension, primary, 1
MedGen UID:
1643124
Concept ID:
C4552070
Disease or Syndrome
Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary Hypertension PPH2 (615342) is caused by mutation in the SMAD9 gene (603295) on chromosome 13q13; PPH3 (615343) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; PPH4 (615344) is caused by mutation in the KCNK3 gene (603220) on chromosome 2p23; and PPH5 (265400) is caused by mutation in the ATP13A3 gene (610232) on chromosome 3q29. Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1; 187300), caused by mutation in the ENG gene (131195), and HHT2 (600376), caused by mutation in the ACVRL1 (ALK1) gene (601284). Pediatric-onset pulmonary hypertension may be seen in association with ischiocoxopodopatellar syndrome (ICPPS; 147891). The skeletal manifestations of ICPPS are highly variable and may not be detected in children. Parents are not likely to have PAH (Levy et al., 2016).
Cardiomyopathy, familial hypertrophic 27
MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.
VISS SYNDROME
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
Pulmonary hypertension, primary, autosomal recessive
MedGen UID:
1802382
Concept ID:
C5676877
Disease or Syndrome
Primary pulmonary hypertension-5 (PPH5) is an autosomal recessive disorder characterized by the onset of pulmonary artery hypertension in infancy, resulting in right heart dysfunction and ultimately right heart failure. Death in early childhood is common (Machado et al., 2022). For a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600).

Recent clinical studies

Etiology

An X, Li S, Weng X, Wang X, Wu H, Zhang X, Gao J, Yang R, Peng B, Li S, Weng X, Wang X, Zhang X, Gao J
J Tradit Chin Med 2020 Dec;40(6):992-998. doi: 10.19852/j.cnki.jtcm.2020.06.010. PMID: 33258351
Kowal J, Ahmad MI, Li Y, Soliman EZ
J Electrocardiol 2019 May - Jun;54:49-53. Epub 2019 Mar 13 doi: 10.1016/j.jelectrocard.2019.03.008. PMID: 30901607
Çetin Güvenç R, Ceran N, Güvenç TS, Tokgöz HC, Velibey Y
J Card Fail 2018 Sep;24(9):583-593. Epub 2018 Sep 6 doi: 10.1016/j.cardfail.2018.08.010. PMID: 30195828
Baptista R, Marques C, Catarino S, Enguita FJ, Costa MC, Matafome P, Zuzarte M, Castro G, Reis A, Monteiro P, Pêgo M, Pereira P, Girão H
Cardiovasc Res 2018 Jan 1;114(1):53-64. doi: 10.1093/cvr/cvx187. PMID: 29016730
Meng FC, Lin YP, Su FY, Yu YS, Lin GM
Indian Heart J 2017 May - Jun;69(3):331-333. Epub 2017 May 6 doi: 10.1016/j.ihj.2017.04.016. PMID: 28648425Free PMC Article

Diagnosis

Naser A, Güvenç TS, Isgandarov K, Ekmekçi A, Gündüz S, Çetin Güvenç R, Şahin M
Heart Vessels 2022 Oct;37(10):1728-1739. Epub 2022 Apr 26 doi: 10.1007/s00380-022-02075-2. PMID: 35471461
Guo HM, Liu ZP
J Cell Mol Med 2021 Apr;25(8):3735-3743. Epub 2021 Mar 12 doi: 10.1111/jcmm.16164. PMID: 33710774Free PMC Article
Çetin Güvenç R, Ceran N, Güvenç TS, Tokgöz HC, Velibey Y
J Card Fail 2018 Sep;24(9):583-593. Epub 2018 Sep 6 doi: 10.1016/j.cardfail.2018.08.010. PMID: 30195828
Nikus K, Pérez-Riera AR, Konttila K, Barbosa-Barros R
J Electrocardiol 2018 Jan - Feb;51(1):46-49. Epub 2017 Sep 10 doi: 10.1016/j.jelectrocard.2017.09.004. PMID: 29046220
Baptista R, Marques C, Catarino S, Enguita FJ, Costa MC, Matafome P, Zuzarte M, Castro G, Reis A, Monteiro P, Pêgo M, Pereira P, Girão H
Cardiovasc Res 2018 Jan 1;114(1):53-64. doi: 10.1093/cvr/cvx187. PMID: 29016730

Therapy

An X, Li S, Weng X, Wang X, Wu H, Zhang X, Gao J, Yang R, Peng B, Li S, Weng X, Wang X, Zhang X, Gao J
J Tradit Chin Med 2020 Dec;40(6):992-998. doi: 10.19852/j.cnki.jtcm.2020.06.010. PMID: 33258351
Yokokawa T, Sugimoto K, Nakazato K, Misaka T, Oikawa M, Kobayashi A, Yoshihisa A, Yamaki T, Kunii H, Ishida T, Takeishi Y
Intern Med 2019 Aug 1;58(15):2139-2144. Epub 2019 Apr 17 doi: 10.2169/internalmedicine.2320-18. PMID: 30996169Free PMC Article
Barral M, Gandjbakhch E, Fouret JP, Aubart FC, Flores A, Badenco N, Cluzel P, Redheuil A
Circulation 2015 Oct 6;132(14):e170-5. doi: 10.1161/CIRCULATIONAHA.114.014214. PMID: 26438771
de Visser YP, Walther FJ, Laghmani el H, Boersma H, van der Laarse A, Wagenaar GT
Respir Res 2009 Apr 29;10:30. doi: 10.1186/1465-9921-10-30. PMID: 19402887Free PMC Article
Okamura H, Goto Y, Terashima M, Takagi S, Ishibashi-Ueda H, Nonogi H
Circulation 2005 Jun 14;111(23):e383-4. doi: 10.1161/CIRCULATIONAHA.104.489294. PMID: 15956140

Prognosis

Naser A, Güvenç TS, Isgandarov K, Ekmekçi A, Gündüz S, Çetin Güvenç R, Şahin M
Heart Vessels 2022 Oct;37(10):1728-1739. Epub 2022 Apr 26 doi: 10.1007/s00380-022-02075-2. PMID: 35471461
Guo HM, Liu ZP
J Cell Mol Med 2021 Apr;25(8):3735-3743. Epub 2021 Mar 12 doi: 10.1111/jcmm.16164. PMID: 33710774Free PMC Article
Kowal J, Ahmad MI, Li Y, Soliman EZ
J Electrocardiol 2019 May - Jun;54:49-53. Epub 2019 Mar 13 doi: 10.1016/j.jelectrocard.2019.03.008. PMID: 30901607
Çetin Güvenç R, Ceran N, Güvenç TS, Tokgöz HC, Velibey Y
J Card Fail 2018 Sep;24(9):583-593. Epub 2018 Sep 6 doi: 10.1016/j.cardfail.2018.08.010. PMID: 30195828
Meng FC, Lin YP, Su FY, Yu YS, Lin GM
Indian Heart J 2017 May - Jun;69(3):331-333. Epub 2017 May 6 doi: 10.1016/j.ihj.2017.04.016. PMID: 28648425Free PMC Article

Clinical prediction guides

Guo HM, Liu ZP
J Cell Mol Med 2021 Apr;25(8):3735-3743. Epub 2021 Mar 12 doi: 10.1111/jcmm.16164. PMID: 33710774Free PMC Article
Yokokawa T, Sugimoto K, Nakazato K, Misaka T, Oikawa M, Kobayashi A, Yoshihisa A, Yamaki T, Kunii H, Ishida T, Takeishi Y
Intern Med 2019 Aug 1;58(15):2139-2144. Epub 2019 Apr 17 doi: 10.2169/internalmedicine.2320-18. PMID: 30996169Free PMC Article
Chao WH, Su FY, Lin F, Yu YS, Lin GM
Eur J Sport Sci 2019 Oct;19(9):1214-1220. Epub 2019 Apr 6 doi: 10.1080/17461391.2019.1595741. PMID: 30955480
Kowal J, Ahmad MI, Li Y, Soliman EZ
J Electrocardiol 2019 May - Jun;54:49-53. Epub 2019 Mar 13 doi: 10.1016/j.jelectrocard.2019.03.008. PMID: 30901607
Guo X, Fan C, Tian L, Liu Y, Wang H, Zhao S, Duan F, Zhang X, Zhao X, Wang F, Zhu H, Lin A, Wu X, Li Y
PLoS One 2017;12(3):e0174118. Epub 2017 Mar 21 doi: 10.1371/journal.pone.0174118. PMID: 28323875Free PMC Article

Recent systematic reviews

Lopes A, Dantas MT, Ladeia AMT
Arq Bras Cardiol 2022 Dec;119(6):893-899. doi: 10.36660/abc.20220207. PMID: 36417618
Moreira A, Naqvi R, Hall K, Emukah C, Martinez J, Moreira A, Dittmar E, Zoretic S, Evans M, Moses D, Mustafa S
Stem Cell Res Ther 2020 Sep 15;11(1):399. doi: 10.1186/s13287-020-01900-7. PMID: 32933584Free PMC Article
Dong Y, Pan Z, Wang D, Lv J, Fang J, Xu R, Ding J, Cui X, Xie X, Wang X, Chen Md Y, Guo X
Circ Cardiovasc Imaging 2020 Jul;13(7):e010568. Epub 2020 Jul 16 doi: 10.1161/CIRCIMAGING.120.010568. PMID: 32673506
Muhammad SA, Abbas AY, Saidu Y, Fakurazi S, Bilbis LS
Biochimie 2020 Jan;168:156-168. Epub 2019 Oct 31 doi: 10.1016/j.biochi.2019.10.016. PMID: 31678635
Penaloza D, Arias-Stella J
Circulation 2007 Mar 6;115(9):1132-46. doi: 10.1161/CIRCULATIONAHA.106.624544. PMID: 17339571

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