Pulmonic regurgitation screening: Difference between revisions
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==Overview== | ==Overview== | ||
There are no specific screening recommendations for patients with [[pulmonary regurgitation]]. | 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== | ==Screening== | ||
There are no specific screening tests for detection of [[pulmonary | *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]].<ref name="pmid22869820">{{cite journal| author=Mercer-Rosa L, Yang W, Kutty S, Rychik J, Fogel M, Goldmuntz E| title=Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging. | journal=Circ Cardiovasc Imaging | year= 2012 | volume= 5 | issue= 5 | pages= 637-43 | pmid=22869820 | doi=10.1161/CIRCIMAGING.112.972588 | pmc=3476467 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22869820 }} </ref> | ||
*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.<ref name="pmid32323311">{{cite journal |vauthors=Massadeh S, Alhashem A, van de Laar IMBH, 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 |title=ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype |journal=Clin. Genet. |volume=98 |issue=1 |pages=56–63 |date=July 2020 |pmid=32323311 |doi=10.1111/cge.13760 |url=}}</ref> The recommendation is based on the identification of ADAMTS19 as a novel causative [[gene]] for [[autosomal recessive]] heart [[valvular disease|valve disease]] including [[aortic valve|aortic]] and [[pulmonary valve|pulmonic valve]] insufficiency.<ref name="pmid31844321">{{cite journal |vauthors=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 |title=Loss of ADAMTS19 causes progressive non-syndromic heart valve disease |journal=Nat. Genet. |volume=52 |issue=1 |pages=40–47 |date=January 2020 |pmid=31844321 |pmc=7197892 |doi=10.1038/s41588-019-0536-2 |url=}}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 23:57, 4 August 2020
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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.