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Muscular ventricular septal defect

MedGen UID:
473253
Concept ID:
C0685707
Congenital Abnormality
Synonyms: Ventricular septal defect, muscular; Ventricular septal defects, muscular
SNOMED CT: Muscular ventricular septum defect (94706008); Muscular ventricular septal defect (94706008)
 
HPO: HP:0011623

Definition

The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. [from HPO]

Conditions with this feature

Sotos syndrome
MedGen UID:
61232
Concept ID:
C0175695
Disease or Syndrome
Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral problems (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.
Wrinkly skin syndrome
MedGen UID:
98030
Concept ID:
C0406587
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Hypertrophic cardiomyopathy 4
MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. 
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.
Cardiospondylocarpofacial syndrome
MedGen UID:
444060
Concept ID:
C2931461
Disease or Syndrome
Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).
Atrioventricular septal defect 5
MedGen UID:
482569
Concept ID:
C3280939
Disease or Syndrome
The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215).
Neurodevelopmental disorder and language delay with or without structural brain abnormalities
MedGen UID:
1677130
Concept ID:
C5193048
Disease or Syndrome
Houge-Janssens syndrome-3 (HJS3) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019). For a discussion of genetic heterogeneity of HJS, see HJS1 (616355).
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
MedGen UID:
1684871
Concept ID:
C5231413
Disease or Syndrome
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).
Vertebral, cardiac, tracheoesophageal, renal, and limb defects
MedGen UID:
1788069
Concept ID:
C5543189
Disease or Syndrome
VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).
Cardiomyopathy, dilated, 2D
MedGen UID:
1782612
Concept ID:
C5543535
Disease or Syndrome
Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation (Ganapathi et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Cardiac valvular defect, developmental
MedGen UID:
1823949
Concept ID:
C5774175
Disease or Syndrome
Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017). Genetic Heterogeneity of Cardiac Valvular Dysplasia CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
MedGen UID:
1823996
Concept ID:
C5774223
Disease or Syndrome
Developmental delay with short stature, dysmorphic facial features, and sparse hair-2 (DEDSSH2) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies (Hawer et al., 2020). For a discussion of genetic heterogeneity of DEDSSH2, see DEDSSH1 (616901).
Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
MedGen UID:
1824002
Concept ID:
C5774229
Disease or Syndrome
Birk-Aharoni syndrome (BKAH) is a severe neurodevelopmental disorder characterized developmental delay, impaired intellectual development, absent speech, spastic tetraplegia with central hypotonia, chorea, inability to walk, hearing loss, micropenis, undescended testes, and mildly elevated liver enzymes (Aharoni et al., 2022).
Cardiomyopathy, dilated, 2H
MedGen UID:
1824069
Concept ID:
C5774296
Disease or Syndrome
CMD2H is an autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy (Verhagen et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.

Professional guidelines

PubMed

Gupta A, Husain N, Tannous P, Hauck A
Pediatr Cardiol 2020 Jan;41(1):209-212. Epub 2019 Sep 14 doi: 10.1007/s00246-019-02192-2. PMID: 31522266
Lo MH, Huang CF, Lin IC, Lin YJ, Kuo HC, Hsieh KS
J Formos Med Assoc 2018 Feb;117(2):141-146. Epub 2017 Apr 9 doi: 10.1016/j.jfma.2017.02.018. PMID: 28404481

Recent clinical studies

Etiology

Salam A, Bautista-Rodriguez C, Karsenty C, Bouvaist H, Piccinelli E, Fraisse A
Arch Cardiovasc Dis 2022 Mar;115(3):134-141. Epub 2022 Feb 24 doi: 10.1016/j.acvd.2022.01.003. PMID: 35249850
Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020
Svirsky R, Brabbing-Goldstein D, Rozovski U, Kapusta L, Reches A, Yaron Y
J Matern Fetal Neonatal Med 2019 Sep;32(17):2837-2841. Epub 2018 Mar 20 doi: 10.1080/14767058.2018.1449829. PMID: 29510647
Nie YL, Lin MC, Lin WW, Wang CC, Chen CP, Lin CH, Shyu TC, Quek YW, Jan SL, Fu YC
J Chin Med Assoc 2017 Jan;80(1):34-38. Epub 2016 Nov 23 doi: 10.1016/j.jcma.2016.02.014. PMID: 27889458
Koneti NR, Verma S, Bakhru S, Vadlamudi K, Kathare P, Penumatsa RR, Qureshi S
Catheter Cardiovasc Interv 2013 Oct 1;82(4):E500-6. Epub 2013 Jul 1 doi: 10.1002/ccd.25020. PMID: 23704080

Diagnosis

Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B
Am J Med Genet A 2022 Apr;188(4):1149-1159. Epub 2021 Dec 31 doi: 10.1002/ajmg.a.62632. PMID: 34971082
Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P
Eur J Med Genet 2022 Jan;65(1):104381. Epub 2021 Nov 8 doi: 10.1016/j.ejmg.2021.104381. PMID: 34763108
Miyake T
World J Pediatr 2020 Apr;16(2):120-128. Epub 2019 Jul 25 doi: 10.1007/s12519-019-00289-5. PMID: 31347020
Svirsky R, Brabbing-Goldstein D, Rozovski U, Kapusta L, Reches A, Yaron Y
J Matern Fetal Neonatal Med 2019 Sep;32(17):2837-2841. Epub 2018 Mar 20 doi: 10.1080/14767058.2018.1449829. PMID: 29510647
Koneti NR, Verma S, Bakhru S, Vadlamudi K, Kathare P, Penumatsa RR, Qureshi S
Catheter Cardiovasc Interv 2013 Oct 1;82(4):E500-6. Epub 2013 Jul 1 doi: 10.1002/ccd.25020. PMID: 23704080

Therapy

Rahmath MR, Numan M, Dilawar M
Asian Cardiovasc Thorac Ann 2016 Jun;24(5):422-7. Epub 2016 Apr 25 doi: 10.1177/0218492316645746. PMID: 27112358
Ergene O, Kahya Eren N, Nazlı C, Duygu H, Kocabaş U
Turk Kardiyol Dern Ars 2015 Dec;43(8):699-704. doi: 10.5543/tkda.2015.50945. PMID: 26717331
Mishra A, Shah R, Desai M, Chourasiya A, Patel H, Oswal N, Rodricks D
J Thorac Cardiovasc Surg 2014 Dec;148(6):2576-9. Epub 2014 Feb 14 doi: 10.1016/j.jtcvs.2014.02.036. PMID: 24667025
Koneti NR, Verma S, Bakhru S, Vadlamudi K, Kathare P, Penumatsa RR, Qureshi S
Catheter Cardiovasc Interv 2013 Oct 1;82(4):E500-6. Epub 2013 Jul 1 doi: 10.1002/ccd.25020. PMID: 23704080
Arora R, Trehan V, Thakur AK, Mehta V, Sengupta PP, Nigam M
J Interv Cardiol 2004 Apr;17(2):109-15. doi: 10.1111/j.1540-8183.2004.09872.x. PMID: 15104774

Prognosis

Changwe GJ, Hongxin L, Zhang HZ, Wenbin G, Liang F, Cao XX, Chen SL
J Card Surg 2021 Mar;36(3):928-938. Epub 2021 Jan 27 doi: 10.1111/jocs.15291. PMID: 33503678Free PMC Article
Nie YL, Lin MC, Lin WW, Wang CC, Chen CP, Lin CH, Shyu TC, Quek YW, Jan SL, Fu YC
J Chin Med Assoc 2017 Jan;80(1):34-38. Epub 2016 Nov 23 doi: 10.1016/j.jcma.2016.02.014. PMID: 27889458
Rahmath MR, Numan M, Dilawar M
Asian Cardiovasc Thorac Ann 2016 Jun;24(5):422-7. Epub 2016 Apr 25 doi: 10.1177/0218492316645746. PMID: 27112358
Bishnoi AK, Garg P, Desai M, Sharma P, Patel J, Prajapati M, Malhotra A
World J Pediatr Congenit Heart Surg 2015 Jan;6(1):59-66. doi: 10.1177/2150135114559292. PMID: 25548345
Roguin N, Du ZD, Barak M, Nasser N, Hershkowitz S, Milgram E
J Am Coll Cardiol 1995 Nov 15;26(6):1545-8. doi: 10.1016/0735-1097(95)00358-4. PMID: 7594083

Clinical prediction guides

Salam A, Bautista-Rodriguez C, Karsenty C, Bouvaist H, Piccinelli E, Fraisse A
Arch Cardiovasc Dis 2022 Mar;115(3):134-141. Epub 2022 Feb 24 doi: 10.1016/j.acvd.2022.01.003. PMID: 35249850
Nie YL, Lin MC, Lin WW, Wang CC, Chen CP, Lin CH, Shyu TC, Quek YW, Jan SL, Fu YC
J Chin Med Assoc 2017 Jan;80(1):34-38. Epub 2016 Nov 23 doi: 10.1016/j.jcma.2016.02.014. PMID: 27889458
Bishnoi AK, Garg P, Desai M, Sharma P, Patel J, Prajapati M, Malhotra A
World J Pediatr Congenit Heart Surg 2015 Jan;6(1):59-66. doi: 10.1177/2150135114559292. PMID: 25548345
Bonaque González JC, Navarro F, Valencia F, Aguado MJ
World J Pediatr Congenit Heart Surg 2013 Jan;4(1):126-7. doi: 10.1177/2150135112454144. PMID: 23799769
Acar P, Abdel-Massih T, Douste-Blazy MY, Dulac Y, Bonhoeffer P, Sidi D
Eur J Echocardiogr 2002 Sep;3(3):185-91. doi: 10.1053/euje.2002.0143. PMID: 12144837

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