Pulmonic regurgitation screening
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Pulmonic regurgitation Microchapters |
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Diagnosis |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Aysha Anwar, M.B.B.S[2]
Overview
There are no specific screening recommendations for patients with pulmonary regurgitation. A study recommends considering ADAMTS19 genetic testing among all patients with multiple semilunar valve abnormalities.
Screening
- There are no specific screening tests for detection of pulmonary regurgitation (PR). However, patients with increased risk of developing PR such as repair of Tetralogy of Fallot (TOF), pulmonary atresia or truncus arteriosus may be evaluated by routine echocardiography, ECG or MRI to assess right ventricular size and status of pulmonary valve.[1]
- A study recommends considering ADAMTS19 genetic testing among all patients with multiple semilunar valve abnormalities (specifically in the presence of subaortic membrane) to facilitate the estimation of heart valve diseae related phenotype frequency.[2] The recommendation is based on the identification of ADAMTS19 as a novel causative gene for autosomal recessive heart valve disease including aortic and pulmonic valve insufficiency.[3]
References
- ↑ Mercer-Rosa L, Yang W, Kutty S, Rychik J, Fogel M, Goldmuntz E (2012). "Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging". Circ Cardiovasc Imaging. 5 (5): 637–43. doi:10.1161/CIRCIMAGING.112.972588. PMC 3476467. PMID 22869820.
- ↑ Massadeh S, Alhashem A, van de Laar I, Alhabshan F, Ordonez N, Alawbathani S, Khan S, Kabbani MS, Chaikhouni F, Sheereen A, Almohammed I, Alghamdi B, Frohn-Mulder I, Ahmad S, Beetz C, Bauer P, Wessels MW, Alaamery M, Bertoli-Avella AM (July 2020). "ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype". Clin. Genet. 98 (1): 56–63. doi:10.1111/cge.13760. PMID 32323311 Check
|pmid=value (help). Vancouver style error: initials (help) - ↑ Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M, Elpeleg O, Hitz MP, Andelfinger G (January 2020). "Loss of ADAMTS19 causes progressive non-syndromic heart valve disease". Nat. Genet. 52 (1): 40–47. doi:10.1038/s41588-019-0536-2. PMC 7197892 Check
|pmc=value (help). PMID 31844321.