Pulmonic regurgitation screening: Difference between revisions
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===Post [[TOF]] repair=== | ===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> | *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> | ||
*According to ACC/AHA 2008 Guidelines for the Management of Adults With [[Congenital heart disease|CHD]], [[patients]] with repaired [[TOF]] should have<ref name="WarnesWilliams2008">{{cite journal|last1=Warnes|first1=Carole A.|last2=Williams|first2=Roberta G.|last3=Bashore|first3=Thomas M.|last4=Child|first4=John S.|last5=Connolly|first5=Heidi M.|last6=Dearani|first6=Joseph A.|last7=del Nido|first7=Pedro|last8=Fasules|first8=James W.|last9=Graham|first9=Thomas P.|last10=Hijazi|first10=Ziyad M.|last11=Hunt|first11=Sharon A.|last12=King|first12=Mary Etta|last13=Landzberg|first13=Michael J.|last14=Miner|first14=Pamela D.|last15=Radford|first15=Martha J.|last16=Walsh|first16=Edward P.|last17=Webb|first17=Gary D.|title=ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary|journal=Circulation|volume=118|issue=23|year=2008|pages=2395–2451|issn=0009-7322|doi=10.1161/CIRCULATIONAHA.108.190811}}</ref>: | |||
**At least an annual follow-up with adult [[CHD]] expert. | |||
** [[Echocardiographic]] and/or [[MRI]]s performed by staff with expertise in adult [[CHD]] | |||
**Screened for heritable causes of their condition (eg, [[22q11 deletion]]) | |||
===Genetic screening for [[PR]]=== | ===Genetic screening for [[PR]]=== | ||
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> | 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> | ||
Latest revision as of 00:28, 7 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]
- According to ACC/AHA 2008 Guidelines for the Management of Adults With CHD, patients with repaired TOF should have[2]:
- At least an annual follow-up with adult CHD expert.
- Echocardiographic and/or MRIs performed by staff with expertise in adult CHD
- Screened for heritable causes of their condition (eg, 22q11 deletion)
Genetic screening for PR
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.[3] 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.[4]
Pulmonary hypertension (PAH) screening
- PR is common among patients with pulmonary hypertension (PAH).[5] 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[6][7]:
- 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.[8][9]
- 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.[10]
- 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.
Absent Pulmonary Valve Syndrome (APVS) prenatal screening
- APVS is a rare cause of PR but with poor prognosis. The defect may appear in children with no family history of genetic disorders, born to healthy mothers. It has been diagnosed via ultrasonography due to its suggesting features such as[11][12][13]:
- Pulmonary artery aneurysm/ dilatation (with or without involving its branches)
- Massive PR
- PS
- VSD
- Overriding aorta (some of the features described may be due to accompanying TOF)
- Reversed end-diastolic flow (REDF) in the umbilical artery at 10-14 weeks of gestation has been reported to be associated with APVS. Although at 10-14 weeks, REDF is a rare finding. If present, it is associated with major fetal cardiac anomalies specially Fallot type APVS.
- Among the cases reported (APVS together with TOF), early detection helped early intervention (fetuses were aborted after parents' consent among two of a few cases reported).[12]
- Therefore, it is suggested that early fetal echocardiography screening should be performed for every fetus to confidently diagnose this rare anomaly in time. It is also important to consider the possibility of associated chromosomal abnormalities.[13]
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.
- ↑ Warnes, Carole A.; Williams, Roberta G.; Bashore, Thomas M.; Child, John S.; Connolly, Heidi M.; Dearani, Joseph A.; del Nido, Pedro; Fasules, James W.; Graham, Thomas P.; Hijazi, Ziyad M.; Hunt, Sharon A.; King, Mary Etta; Landzberg, Michael J.; Miner, Pamela D.; Radford, Martha J.; Walsh, Edward P.; Webb, Gary D. (2008). "ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary". Circulation. 118 (23): 2395–2451. doi:10.1161/CIRCULATIONAHA.108.190811. ISSN 0009-7322.
- ↑ 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.
- ↑ Berg C, Thomsen Y, Geipel A, Germer U, Gembruch U (September 2007). "Reversed end-diastolic flow in the umbilical artery at 10-14 weeks of gestation is associated with absent pulmonary valve syndrome". Ultrasound Obstet Gynecol. 30 (3): 254–8. doi:10.1002/uog.4098. PMID 17721913.
- ↑ 12.0 12.1 Zhang WJ, Zhang ZL, Chang JJ, Song XY (September 2017). "Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome: A case report". Medicine (Baltimore). 96 (35): e7747. doi:10.1097/MD.0000000000007747. PMC 5585484. PMID 28858090.
- ↑ 13.0 13.1 Grewal DS, Chamoli SC, Saxena S (April 2014). "Absent pulmonary valve syndrome - Antenatal diagnosis". Med J Armed Forces India. 70 (2): 198–200. doi:10.1016/j.mjafi.2013.07.002. PMC 4017172. PMID 24843213.