Pulmonic regurgitation screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Pulmonic regurgitation}} | {{Pulmonic regurgitation}} | ||
{{CMG}}{{AE}}{{AA}} | {{CMG}}{{AE}}{{AA}}, {{JA}} | ||
==Overview== | ==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. | There are no specific screening recommendations for patients with [[pulmonary regurgitation]] (PR). However, [[patients]] on an increased risk of developing [[PR]] secondary to conditions 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 ventricle|right ventricular]] size and status of [[pulmonary valve]]. A study recommends considering ADAMTS19 genetic testing among all [[patients]] with multiple semilunar valve abnormalities. The key [[diagnosis|diagnostic]] tests that may be used for screening of [[PAH]] (a major risk factor for [[PR]]) may include doppler [[transthoracic echocardiography]], DLCO, [[Brain natriuretic peptide|BNP]], [[N-terminal prohormone of brain natriuretic peptide|NT-pro-BNP]], [[serum urate]] levels, and ECG. | ||
==Screening== | ==Screening== | ||
*There are no specific screening tests for detection of [[pulmonary regurgitation]] (PR). However, [[patients]] | *There are no specific screening tests for the detection of [[pulmonary regurgitation]] (PR). However, [[patients]] on an increased risk of developing [[PR]] secondary to other conditions may benefit from regular screening. | ||
===Post [[TOF]] repair=== | |||
Conditions 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 ventricle|right ventricular]] size and status of [[pulmonary valve]]. The technique helps early detection of [[pulmonary valve]] abnormality among cases where it is highly suspected.<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> | |||
===Genetic screening=== | |||
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> | |||
===Pulmonary hypertension (PAH) screening=== | |||
*[[PR]] is common among [[patients]] with [[pulmonary hypertension]] (PAH).<ref name="SaremiGera2014">{{cite journal|last1=Saremi|first1=Farhood|last2=Gera|first2=Atul|last3=Yen Ho|first3=S.|last4=Hijazi|first4=Ziyad M.|last5=Sánchez-Quintana|first5=Damián|title=CT and MR Imaging of the Pulmonary Valve|journal=RadioGraphics|volume=34|issue=1|year=2014|pages=51–71|issn=0271-5333|doi=10.1148/rg.341135026}}</ref> Screening methods have been developed for [[PAH]] and may help lower the burden of the [[disease]] provided early detection and intervention of [[PR]] develops. | |||
*According to the 2015 ESC/ERS Guidelines for the [[diagnosis]] and [[treatment]] of [[pulmonary hypertension]] (PAH) the key [[diagnosis|diagnostic]] tests that may be used for screening of [[PAH]] include<ref name="pmid26320113">{{cite journal |vauthors=Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M |title=2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT) |journal=Eur. Heart J. |volume=37 |issue=1 |pages=67–119 |date=January 2016 |pmid=26320113 |doi=10.1093/eurheartj/ehv317 |url=}}</ref><ref name="pmid31857796">{{cite journal |vauthors=Kiely DG, Lawrie A, Humbert M |title=Screening strategies for pulmonary arterial hypertension |journal=Eur Heart J Suppl |volume=21 |issue=Suppl K |pages=K9–K20 |date=December 2019 |pmid=31857796 |pmc=6915059 |doi=10.1093/eurheartj/suz204 |url=}}</ref>: | |||
**'''Doppler [[transthoracic echocardiography]] (TTE)''' possesses the highest level of evidence as a recommended [[screening test]] for suspected [[PAH]]. | |||
**'''[[Pulmonary function tests]]''' particularly, [[DLCO]] of <60% may be used as a screening method for individuals at high risk of [[PAH]]. 75% of [[patients]] (majorly tobacco smokers or older individuals) with idiopathic [[PAH]] have a reduced DLCO. It is important to note that a normal [[DLCO]] does not exclude [[PAH]] diagnosis.<ref name="pmid12651053">{{cite journal |vauthors=Sun XG, Hansen JE, Oudiz RJ, Wasserman K |title=Pulmonary function in primary pulmonary hypertension |journal=J. Am. Coll. Cardiol. |volume=41 |issue=6 |pages=1028–35 |date=March 2003 |pmid=12651053 |doi=10.1016/s0735-1097(02)02964-9 |url=}}</ref><ref name="pmid23949959">{{cite journal |vauthors=Trip P, Nossent EJ, de Man FS, van den Berk IA, Boonstra A, Groepenhoff H, Leter EM, Westerhof N, Grünberg K, Bogaard HJ, Vonk-Noordegraaf A |title=Severely reduced diffusion capacity in idiopathic pulmonary arterial hypertension: patient characteristics and treatment responses |journal=Eur. Respir. J. |volume=42 |issue=6 |pages=1575–85 |date=December 2013 |pmid=23949959 |doi=10.1183/09031936.00184412 |url=}}</ref> | |||
**'''Blood biomarkers''' such as [[Brain natriuretic peptide|BNP]], [[N-terminal prohormone of brain natriuretic peptide|NT-pro-BNP]], and [[serum urate]] levels are recommended to be included in [[PAH]] screening and elevated levels have been reported to be predictive of [[PAH]]. [[PAH]] accentuates [[myocardium|myocardial wall]] stress resulting in the release of the [[hormones]] tested.<ref name="pmid23687283">{{cite journal |vauthors=Coghlan JG, Denton CP, Grünig E, Bonderman D, Distler O, Khanna D, Müller-Ladner U, Pope JE, Vonk MC, Doelberg M, Chadha-Boreham H, Heinzl H, Rosenberg DM, McLaughlin VV, Seibold JR |title=Evidence-based detection of pulmonary arterial hypertension in systemic sclerosis: the DETECT study |journal=Ann. Rheum. Dis. |volume=73 |issue=7 |pages=1340–9 |date=July 2014 |pmid=23687283 |pmc=4078756 |doi=10.1136/annrheumdis-2013-203301 |url=}}</ref> | |||
**'''[[ECG]]''' is a component of [[PAH]] screening algorithm. The screening technique has been unsuccessful in identifying early-stage [[PAH]] but [[right axis deviation]] on [[ECG]] has been reported to help discriminate [[patients]] with and without [[PAH]]. The technique has helped improve the [[disease]] detection. | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 11:04, 5 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], Javaria Anwer M.D.[3]
Overview
There are no specific screening recommendations for patients with pulmonary regurgitation (PR). However, patients on an increased risk of developing PR secondary to conditions 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. A study recommends considering ADAMTS19 genetic testing among all patients with multiple semilunar valve abnormalities. The key diagnostic tests that may be used for screening of PAH (a major risk factor for PR) may include doppler transthoracic echocardiography, DLCO, BNP, NT-pro-BNP, serum urate levels, and ECG.
Screening
- There are no specific screening tests for the detection of pulmonary regurgitation (PR). However, patients on an increased risk of developing PR secondary to other conditions may benefit from regular screening.
Post TOF repair
Conditions 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. The technique helps early detection of pulmonary valve abnormality among cases where it is highly suspected.[1]
Genetic screening
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]
Pulmonary hypertension (PAH) screening
- PR is common among patients with pulmonary hypertension (PAH).[4] Screening methods have been developed for PAH and may help lower the burden of the disease provided early detection and intervention of PR develops.
- According to the 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension (PAH) the key diagnostic tests that may be used for screening of PAH include[5][6]:
- Doppler transthoracic echocardiography (TTE) possesses the highest level of evidence as a recommended screening test for suspected PAH.
- Pulmonary function tests particularly, DLCO of <60% may be used as a screening method for individuals at high risk of PAH. 75% of patients (majorly tobacco smokers or older individuals) with idiopathic PAH have a reduced DLCO. It is important to note that a normal DLCO does not exclude PAH diagnosis.[7][8]
- Blood biomarkers such as BNP, NT-pro-BNP, and serum urate levels are recommended to be included in PAH screening and elevated levels have been reported to be predictive of PAH. PAH accentuates myocardial wall stress resulting in the release of the hormones tested.[9]
- ECG is a component of PAH screening algorithm. The screening technique has been unsuccessful in identifying early-stage PAH but right axis deviation on ECG has been reported to help discriminate patients with and without PAH. The technique has helped improve the disease detection.
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. - ↑ Saremi, Farhood; Gera, Atul; Yen Ho, S.; Hijazi, Ziyad M.; Sánchez-Quintana, Damián (2014). "CT and MR Imaging of the Pulmonary Valve". RadioGraphics. 34 (1): 51–71. doi:10.1148/rg.341135026. ISSN 0271-5333.
- ↑ Galiè N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, Ghofrani A, Gomez Sanchez MA, Hansmann G, Klepetko W, Lancellotti P, Matucci M, McDonagh T, Pierard LA, Trindade PT, Zompatori M, Hoeper M (January 2016). "2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT)". Eur. Heart J. 37 (1): 67–119. doi:10.1093/eurheartj/ehv317. PMID 26320113.
- ↑ Kiely DG, Lawrie A, Humbert M (December 2019). "Screening strategies for pulmonary arterial hypertension". Eur Heart J Suppl. 21 (Suppl K): K9–K20. doi:10.1093/eurheartj/suz204. PMC 6915059 Check
|pmc=value (help). PMID 31857796. - ↑ Sun XG, Hansen JE, Oudiz RJ, Wasserman K (March 2003). "Pulmonary function in primary pulmonary hypertension". J. Am. Coll. Cardiol. 41 (6): 1028–35. doi:10.1016/s0735-1097(02)02964-9. PMID 12651053.
- ↑ Trip P, Nossent EJ, de Man FS, van den Berk IA, Boonstra A, Groepenhoff H, Leter EM, Westerhof N, Grünberg K, Bogaard HJ, Vonk-Noordegraaf A (December 2013). "Severely reduced diffusion capacity in idiopathic pulmonary arterial hypertension: patient characteristics and treatment responses". Eur. Respir. J. 42 (6): 1575–85. doi:10.1183/09031936.00184412. PMID 23949959.
- ↑ Coghlan JG, Denton CP, Grünig E, Bonderman D, Distler O, Khanna D, Müller-Ladner U, Pope JE, Vonk MC, Doelberg M, Chadha-Boreham H, Heinzl H, Rosenberg DM, McLaughlin VV, Seibold JR (July 2014). "Evidence-based detection of pulmonary arterial hypertension in systemic sclerosis: the DETECT study". Ann. Rheum. Dis. 73 (7): 1340–9. doi:10.1136/annrheumdis-2013-203301. PMC 4078756. PMID 23687283.