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Dysplastic tricuspid valve

MedGen UID:
901243
Concept ID:
C4255215
Congenital Abnormality
Synonyms: Congenital dysplasia of tricuspid valve; Tricuspid valvar dysplasia; Tricuspid valve dysplasia
SNOMED CT: Congenital dysplasia of tricuspid valve (762254000); Tricuspid valvar dysplasia (762254000)
 
HPO: HP:0030732

Definition

A congenital malformation of the tricuspid valve characterized by leaflet deformation. [from HPO]

Conditions with this feature

CHARGE association
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
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).
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).
Chromosome 6q24-q25 deletion syndrome
MedGen UID:
461565
Concept ID:
C3150215
Disease or Syndrome
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
Cardiac-urogenital syndrome
MedGen UID:
1648333
Concept ID:
C4748946
Disease or Syndrome
Cardiac-urogenital syndrome is characterized by partial anomalous pulmonary venous return in association with tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism (Pinz et al., 2018).

Recent clinical studies

Etiology

Hösch O, Ngyuen TT, Lauerer P, Schuster A, Kutty S, Staab W, Unterberg-Buchwald C, Sohns JM, Paul T, Lotz J, Steinmetz M
Eur Heart J Cardiovasc Imaging 2015 Jun;16(6):670-5. Epub 2015 Mar 2 doi: 10.1093/ehjci/jeu312. PMID: 25736309
Shankarappa RK, Papaiah S, Karur S, Math RS, Nanjappa MC
Echocardiography 2013 May;30(5):E128-31. Epub 2013 Mar 12 doi: 10.1111/echo.12160. PMID: 23489067
Honjo O, Ishino K, Yoshizumi K, Kawada M, Ohtsuki S, Akagi T, Sano S
J Heart Valve Dis 2006 May;15(3):392-3. PMID: 16784078

Diagnosis

Asada D, Ikeda K, Yamagishi M
Cardiol Young 2017 Apr;27(3):597-599. Epub 2016 Sep 29 doi: 10.1017/S1047951116001578. PMID: 27680744
Werho DK, Thorsson T, Owens ST, Fifer C
Pediatr Cardiol 2015 Aug;36(6):1310-1. Epub 2015 Apr 9 doi: 10.1007/s00246-015-1171-z. PMID: 25854848
Johnson JN, Ackerman MJ, Cannon BC
Cardiol Young 2015 Mar;25(3):584-7. Epub 2014 May 9 doi: 10.1017/S1047951114000717. PMID: 24809365
Shankarappa RK, Papaiah S, Karur S, Math RS, Nanjappa MC
Echocardiography 2013 May;30(5):E128-31. Epub 2013 Mar 12 doi: 10.1111/echo.12160. PMID: 23489067
Misu Y, Hiraishi S, Oguchi K, Amano K
Pediatr Cardiol 1999 Nov-Dec;20(6):435-7. doi: 10.1007/s002469900508. PMID: 10556393

Therapy

Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K
Gen Thorac Cardiovasc Surg 2010 May;58(5):223-7. Epub 2010 May 7 doi: 10.1007/s11748-009-0431-3. PMID: 20449712
Misu Y, Hiraishi S, Oguchi K, Amano K
Pediatr Cardiol 1999 Nov-Dec;20(6):435-7. doi: 10.1007/s002469900508. PMID: 10556393
Xenopoulos NP, Braden GA, Applegate RJ
Clin Cardiol 1996 Nov;19(11):903-5. doi: 10.1002/clc.4960191113. PMID: 8914786

Prognosis

Hösch O, Ngyuen TT, Lauerer P, Schuster A, Kutty S, Staab W, Unterberg-Buchwald C, Sohns JM, Paul T, Lotz J, Steinmetz M
Eur Heart J Cardiovasc Imaging 2015 Jun;16(6):670-5. Epub 2015 Mar 2 doi: 10.1093/ehjci/jeu312. PMID: 25736309
Kobayashi J, Kaneko Y, Yamamoto Y, Yoda H, Tsuchiya K
Gen Thorac Cardiovasc Surg 2010 May;58(5):223-7. Epub 2010 May 7 doi: 10.1007/s11748-009-0431-3. PMID: 20449712
Cakmak F, Haciömeroğlu P, Günal N, Baysal K
Turk J Pediatr 2007 Jan-Mar;49(1):85-8. PMID: 17479651
Honjo O, Ishino K, Yoshizumi K, Kawada M, Ohtsuki S, Akagi T, Sano S
J Heart Valve Dis 2006 May;15(3):392-3. PMID: 16784078
Ng DK, Chau KW, Black C, Thomas TM, Mak KL, Boxer M
J Paediatr Child Health 1999 Jun;35(3):321-3. doi: 10.1046/j.1440-1754.1999.00355.x. PMID: 10404462

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