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Perimembranous ventricular septal defect

MedGen UID:
87490
Concept ID:
C0344925
Congenital Abnormality
Synonym: Ventricular septal defect, perimembranous
SNOMED CT: Perimembranous ventricular septal defect (109428005)
 
HPO: HP:0011682

Definition

A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Perimembranous ventricular septal defect

Conditions with this feature

Fumarase deficiency
MedGen UID:
87458
Concept ID:
C0342770
Disease or Syndrome
Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are nonverbal and nonambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.
Chromosome 9p deletion syndrome
MedGen UID:
167073
Concept ID:
C0795830
Disease or Syndrome
A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
MedGen UID:
318752
Concept ID:
C1832950
Disease or Syndrome
Dilated cardiomyopathy 1S
MedGen UID:
371831
Concept ID:
C1834481
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.
Alpha thalassemia-X-linked intellectual disability syndrome
MedGen UID:
337145
Concept ID:
C1845055
Disease or Syndrome
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.
Cardiac septal defects with coarctation of the aorta
MedGen UID:
347855
Concept ID:
C1859331
Disease or Syndrome
Mungan syndrome
MedGen UID:
369554
Concept ID:
C1969653
Disease or Syndrome
Mungan syndrome (MGS) is characterized by chronic intestinal pseudoobstruction (CIPO), megaduodenum, long-segment Barrett esophagus, and cardiac abnormalities of variable severity (summary by Bonora et al., 2015).
Chromosome 1q21.1 deletion syndrome
MedGen UID:
393913
Concept ID:
C2675897
Congenital Abnormality
The 1q21.1 recurrent microdeletion itself does not appear to lead to a clinically recognizable syndrome as some persons with the deletion have no obvious clinical findings and others have variable findings that most commonly include microcephaly (50%), mild intellectual disability (30%), mildly dysmorphic facial features, and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, and seizures (~15%). Psychiatric and behavioral abnormalities can include autism spectrum disorders, attention deficit hyperactivity disorder, autistic features, and sleep disturbances.
ALG8 congenital disorder of glycosylation
MedGen UID:
419692
Concept ID:
C2931002
Disease or Syndrome
CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065). CDG1H is a severe form of CDG. The majority of patients have brain involvement, liver pathology, gastrointestinal symptoms, dysmorphism (including brachydactyly), eye involvement (especially cataract), and skin symptoms. Most patients die within the first year of life (summary by Marques-da-Silva et al., 2017).
COG7 congenital disorder of glycosylation
MedGen UID:
419311
Concept ID:
C2931010
Disease or Syndrome
CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).
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 2
MedGen UID:
482413
Concept ID:
C3280783
Congenital Abnormality
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). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
860891
Concept ID:
C4012454
Congenital Abnormality
A rare, syndromic diabetes mellitus characterized by 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).
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Snijders Blok-Campeau syndrome
MedGen UID:
1648495
Concept ID:
C4748701
Disease or Syndrome
Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable (summary by Snijders Blok et al., 2018).
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
MedGen UID:
1684884
Concept ID:
C5231442
Disease or Syndrome
Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).
Long QT syndrome 16
MedGen UID:
1713991
Concept ID:
C5394068
Disease or Syndrome
LQT16 Long QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death (Reed et al., 2015; Wren et al., 2019). Patients with LQT14 (616247), LQT15 (616249), or LQT16, resulting from mutation in calmodulin genes CALM1 (114180), CALM2 (114182), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). CPVT6 Catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia (Gomez-Hurtado et al., 2016).
Sandestig-stefanova syndrome
MedGen UID:
1718072
Concept ID:
C5394118
Disease or Syndrome
Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019).
Mitochondrial complex 1 deficiency, nuclear type 36
MedGen UID:
1773965
Concept ID:
C5436935
Disease or Syndrome
Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome (see 256000). Patient tissue showed isolated mitochondrial complex I deficiency. Death may occur in childhood (Alahmad et al., 2020). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010.
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
MedGen UID:
1778119
Concept ID:
C5542952
Disease or Syndrome
Mitochondrial complex I deficiency, nuclear type 39
MedGen UID:
1824031
Concept ID:
C5774258
Disease or Syndrome
Mitochondrial complex I deficiency nuclear type 39 (MC1DN39) is an autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome (Correia et al., 2021)

Professional guidelines

PubMed

Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Restrepo H
J Matern Fetal Neonatal Med 2022 Dec;35(25):8001-8005. Epub 2021 Jun 17 doi: 10.1080/14767058.2021.1940933. PMID: 34139939
Tretter JT, Tran VH, Gray S, Ta H, Loomba RS, O'Connor W, Spicer DE, Cook AC, Anderson RH
Orphanet J Rare Dis 2019 Apr 3;14(1):76. doi: 10.1186/s13023-019-1044-2. PMID: 30944003Free PMC Article
Atiq M, Khan SA, Tipu FA, Amin Z
Pediatr Cardiol 2008 Sep;29(5):890-3. Epub 2008 May 15 doi: 10.1007/s00246-008-9223-2. PMID: 18481136

Recent clinical studies

Etiology

Gordin Kopylov L, Dekel N, Maymon R, Feldman N, Zimmerman A, Hadas D, Melcer Y, Svirsky R
Prenat Diagn 2022 Apr;42(4):461-468. Epub 2022 Mar 7 doi: 10.1002/pd.6128. PMID: 35230708Free PMC Article
Yoneyama F, Kato H, Matsubara M, Mathis BJ, Yoshimura Y, Abe M, Suetsugu F, Maruo K, Suzuki Y, Hiramatsu Y
Eur J Cardiothorac Surg 2022 Jun 15;62(1) doi: 10.1093/ejcts/ezab407. PMID: 34549780
Guirgis L, Valdeolmillos E, Vaksmann G, Karsenty C, Houeijeh A, Hery E, Amedro P, Pangaud N, Benbrik N, Vastel C, Legendre A, Jalal Z, Hadeed K, Ladouceur M, Iserin L, Laux D, Iriart X, Warin Fresse K, Leobon B, Harchaoui S, Lambert V, Bonefoy R, Basquin A, Chalard A, Douchin S, Bouzguenda I, Denis C, Lucron H, Bosser G, Barre E, Urbina-Hiel B, Helms P, Ansquer H, Hauet Q, Leborgne AS, Cohen L, Lupoglazoff JM, Guirgis M, Gronier C, Maragnes P, Moceri P, Mauran P, Bertail C, Lefort B, Godart F, Baruteau AE, Ovaert C, Bonnet D, Combes N, Khraiche D, Houyel L, Thambo JB, Mostefa-Kara M, Hascoet S; FRANCISCO investigators
Cardiol Young 2021 Oct;31(10):1557-1562. Epub 2021 Sep 23 doi: 10.1017/S1047951121002717. PMID: 34551835
Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020
Cabrera A, Martinez P, Rumoroso JR, Alcibar J, Arriola J, Pastor E, Galdeano JM
Eur Heart J 1995 May;16(5):682-6. doi: 10.1093/oxfordjournals.eurheartj.a060973. PMID: 7588901

Diagnosis

Gordin Kopylov L, Dekel N, Maymon R, Feldman N, Zimmerman A, Hadas D, Melcer Y, Svirsky R
Prenat Diagn 2022 Apr;42(4):461-468. Epub 2022 Mar 7 doi: 10.1002/pd.6128. PMID: 35230708Free PMC Article
Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Restrepo H
J Matern Fetal Neonatal Med 2022 Dec;35(25):8001-8005. Epub 2021 Jun 17 doi: 10.1080/14767058.2021.1940933. PMID: 34139939
Guo Z, Zhang S, Zhu M, Jiang X, Guo W, Feng J, Liang D, Liang H, Wang X
Int J Cardiovasc Imaging 2021 Jan;37(1):117-124. Epub 2020 Aug 14 doi: 10.1007/s10554-020-01967-6. PMID: 32803483
Nayak S, Patel A, Haddad L, Kanakriyeh M, Varadarajan P
Echocardiography 2020 Dec;37(12):2185-2193. doi: 10.1111/echo.14511. PMID: 33368542
Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020

Therapy

Lin L, Liu J, Guo X, Chen H, Huang Y, Zheng H, Chen W, Chen L, Chen L, Chen Z
Heart Rhythm 2022 Mar;19(3):389-396. Epub 2021 Nov 27 doi: 10.1016/j.hrthm.2021.11.027. PMID: 34843969
Yoneyama F, Kato H, Matsubara M, Mathis BJ, Yoshimura Y, Abe M, Suetsugu F, Maruo K, Suzuki Y, Hiramatsu Y
Eur J Cardiothorac Surg 2022 Jun 15;62(1) doi: 10.1093/ejcts/ezab407. PMID: 34549780
Liu S, Zhang W, Li J, Wang S, Qian M, Shi J, Xie Y, Zhang Z
J Interv Cardiol 2021;2021:4091888. Epub 2021 Sep 11 doi: 10.1155/2021/4091888. PMID: 34621141Free PMC Article
Guo Z, Zhang S, Zhu M, Jiang X, Guo W, Feng J, Liang D, Liang H, Wang X
Int J Cardiovasc Imaging 2021 Jan;37(1):117-124. Epub 2020 Aug 14 doi: 10.1007/s10554-020-01967-6. PMID: 32803483
Guo W, Li Y, Yu J, Li J, Sun L, Shi J, Wang S, Chen H, Zhang Z
J Interv Cardiol 2020;2020:6646482. Epub 2020 Dec 24 doi: 10.1155/2020/6646482. PMID: 33424492Free PMC Article

Prognosis

Jiang D, Han B, Zhao L, Yi Y, Zhang J, Fan Y, Lv J, Wang J, Wang Y
J Am Heart Assoc 2021 Jun;10(11):e020417. Epub 2021 May 17 doi: 10.1161/JAHA.120.020417. PMID: 33998288Free PMC Article
Guo Z, Zhang S, Zhu M, Jiang X, Guo W, Feng J, Liang D, Liang H, Wang X
Int J Cardiovasc Imaging 2021 Jan;37(1):117-124. Epub 2020 Aug 14 doi: 10.1007/s10554-020-01967-6. PMID: 32803483
Zhao LJ, Han B, Zhang JJ, Yi YC, Jiang DD, Lyu JL
Cardiol Young 2018 Mar;28(3):447-453. Epub 2017 Dec 13 doi: 10.1017/S1047951117002396. PMID: 29233213
Ou-Yang WB, Wang SZ, Hu SS, Zhang FW, Zhang DW, Liu Y, Meng H, Pang KJ, Meng LK, Pan XB
Eur J Cardiothorac Surg 2017 Mar 1;51(3):478-482. doi: 10.1093/ejcts/ezw352. PMID: 28082474
Cabrera A, Martinez P, Rumoroso JR, Alcibar J, Arriola J, Pastor E, Galdeano JM
Eur Heart J 1995 May;16(5):682-6. doi: 10.1093/oxfordjournals.eurheartj.a060973. PMID: 7588901

Clinical prediction guides

Wang S, Li Z, Wang Y, Zhao T, Mo X, Fan T, Li J, You T, Deng R, Ouyang W, Wang W, Zhang C, Butera G, Hijazi ZM, Pang K, Zhu D, Jiang S, Zhang G, Hu X, Xie Y, Zhang F, Fang F, Sun J, Li P, Chen J, Luo Z, Pan X
Sci Bull (Beijing) 2023 May 30;68(10):1051-1059. Epub 2023 Apr 26 doi: 10.1016/j.scib.2023.04.027. PMID: 37179234
Liu S, Zhang W, Li J, Wang S, Qian M, Shi J, Xie Y, Zhang Z
J Interv Cardiol 2021;2021:4091888. Epub 2021 Sep 11 doi: 10.1155/2021/4091888. PMID: 34621141Free PMC Article
Guirgis L, Valdeolmillos E, Vaksmann G, Karsenty C, Houeijeh A, Hery E, Amedro P, Pangaud N, Benbrik N, Vastel C, Legendre A, Jalal Z, Hadeed K, Ladouceur M, Iserin L, Laux D, Iriart X, Warin Fresse K, Leobon B, Harchaoui S, Lambert V, Bonefoy R, Basquin A, Chalard A, Douchin S, Bouzguenda I, Denis C, Lucron H, Bosser G, Barre E, Urbina-Hiel B, Helms P, Ansquer H, Hauet Q, Leborgne AS, Cohen L, Lupoglazoff JM, Guirgis M, Gronier C, Maragnes P, Moceri P, Mauran P, Bertail C, Lefort B, Godart F, Baruteau AE, Ovaert C, Bonnet D, Combes N, Khraiche D, Houyel L, Thambo JB, Mostefa-Kara M, Hascoet S; FRANCISCO investigators
Cardiol Young 2021 Oct;31(10):1557-1562. Epub 2021 Sep 23 doi: 10.1017/S1047951121002717. PMID: 34551835
Guo Z, Zhang S, Zhu M, Jiang X, Guo W, Feng J, Liang D, Liang H, Wang X
Int J Cardiovasc Imaging 2021 Jan;37(1):117-124. Epub 2020 Aug 14 doi: 10.1007/s10554-020-01967-6. PMID: 32803483
El-Sisi A, Sobhy R, Jaccoub V, Hamza H
Pediatr Cardiol 2017 Mar;38(3):596-602. Epub 2017 Mar 1 doi: 10.1007/s00246-016-1553-x. PMID: 28251252

Recent systematic reviews

Hong ZN, Chen Q, Huang LQ, Cao H
J Cardiothorac Surg 2019 Jun 27;14(1):119. doi: 10.1186/s13019-019-0936-5. PMID: 31248430Free PMC Article

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