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>
===Genetic screening===
===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>
===Pulmonary hypertension (PAH) screening===
===Pulmonary hypertension (PAH) screening===
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**'''[[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>
**'''[[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>
**'''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.
**'''[[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<ref name="pmid17721913">{{cite journal |vauthors=Berg C, Thomsen Y, Geipel A, Germer U, Gembruch U |title=Reversed end-diastolic flow in the umbilical artery at 10-14 weeks of gestation is associated with absent pulmonary valve syndrome |journal=Ultrasound Obstet Gynecol |volume=30 |issue=3 |pages=254–8 |date=September 2007 |pmid=17721913 |doi=10.1002/uog.4098 |url=}}</ref><ref name="pmid28858090">{{cite journal |vauthors=Zhang WJ, Zhang ZL, Chang JJ, Song XY |title=Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome: A case report |journal=Medicine (Baltimore) |volume=96 |issue=35 |pages=e7747 |date=September 2017 |pmid=28858090 |pmc=5585484 |doi=10.1097/MD.0000000000007747 |url=}}</ref><ref name="pmid24843213">{{cite journal |vauthors=Grewal DS, Chamoli SC, Saxena S |title=Absent pulmonary valve syndrome - Antenatal diagnosis |journal=Med J Armed Forces India |volume=70 |issue=2 |pages=198–200 |date=April 2014 |pmid=24843213 |pmc=4017172 |doi=10.1016/j.mjafi.2013.07.002 |url=}}</ref>:
 
*#[[Pulmonary artery]] aneurysm/ dilatation (with or without involving its branches)
 
*# Massive [[PR]]
 
*#[[Pulmonic stenosis|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).<ref name="pmid28858090">{{cite journal |vauthors=Zhang WJ, Zhang ZL, Chang JJ, Song XY |title=Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome: A case report |journal=Medicine (Baltimore) |volume=96 |issue=35 |pages=e7747 |date=September 2017 |pmid=28858090 |pmc=5585484 |doi=10.1097/MD.0000000000007747 |url=}}</ref>
*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]].<ref name="pmid24843213">{{cite journal |vauthors=Grewal DS, Chamoli SC, Saxena S |title=Absent pulmonary valve syndrome - Antenatal diagnosis |journal=Med J Armed Forces India |volume=70 |issue=2 |pages=198–200 |date=April 2014 |pmid=24843213 |pmc=4017172 |doi=10.1016/j.mjafi.2013.07.002 |url=}}</ref>


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 17:30, 5 August 2020

Pulmonic regurgitation Microchapters

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Overview

Historical Perspective

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Pathophysiology

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Epidemiology and Demographics

Risk Factors

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Natural History, Complications and Prognosis

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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 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.[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

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[10][11][12]:
    1. Pulmonary artery aneurysm/ dilatation (with or without involving its branches)
    2. Massive PR
    3. PS
    4. VSD
    5. Overriding aorta (some of the features described may be due to accompanying TOF)
    6. 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).[11]
  • 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.[12]

References

  1. ↑ 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.
  2. ↑ 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)
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 11.0 11.1 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.
  12. ↑ 12.0 12.1 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.
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