Pentalogy of Fallot
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Abdulkareem Opeoluwalukan, M.D.
Overview
Pentalogy of Fallot is defined as the occurrence of Tetralogy of Fallot plus an atrial septal defect.
Historical Perspective
tetrallogy of fallot was first discovered by Niel Stenson, a Denish physician Anatomist, in 1671[1].
The association between Rigt ventriular outflow tract obstruction and a large ventricular septal defect and tetrallogy of fallot. was made in 1888 by Etinne-Louise][2].
In 1924, Canadian, Maude Abbott was the first to discover the association between ventricular septal defect , pulmonary stenosis, overriding aorta and right ventricular hypertrophy and the development of tetrallogy of Fallot.[2]
Classification
There is no established system for the classification of [pentallogy of fallot ].
Pathophysiology
It is thought that tetrallogy of fallot is the result of anterocephalad deviation of the aortico pulmonary septum[3] thus leading to
- ventricular septal defect
- right ventricular outflow tract obstruction
- overriding aorta
- right ventricular hypertrophy with an additional ASD( atrial septal defect) with ostium secundum type being the most common followed by ostium primum [3]. thus making it a pentallogy of fallot. even though there are no reports on the molecular pathophysiology of pentallogy of fallot, conotruncal heart defects like tetrallogy of fallot are associated with neural crest migration defect. systemic pathophysiology of tetrallogy of fallot depends on the extent of right ventricular outflow tract obstruction, severe pulmonic stenosis leads to a significant decrease in pulmonary circulation and worsening right to left shunt leading to cyanosis.A collateral PDA makes Tetrallogy of fallot compatible with life as it preserves pulmonic circulation [4]
Causes
The cause of pentalogy of fallot has not been identified. To review risk factors for the development of pentalogy of fallot, click here.
Differentiating pentalogy of fallot from other Diseases
pentallogy of Fallot must be differentiated from other diseases that cause .
right to left shunt
- transposition of great arteries with pulmonic stenosis,
- double outlet right ventricle including Taussig-Bing anomaly,
- tricuspid atresia,
- Ebstein Anomaly,
- pulmonary atresia with intact ventricular septum ,
Respiratory diseases
- Bronchiolitis,
- viral and bacterial pneumonia
- pneumothorax because when they are in heart failure they present with signs of respiratory distress, cyanosis and failure to thrive
Bidirectional shunt diseases
- total anomalous pulmonary venous return,
- hypoplastic left heart syndrome,
- single ventricle
- truncus arteriosus [1]
Epidemiology and Demographics
The epidemiology of pentalogy of fallot has not been well studied.
Risk Factors
Common risk factors in the development of pentalogy of fallot includes[5]
- Alcoholism in mother
- Maternal Diabetes
- Advanced maternal age i.e greater than 40 years
- Malnutrition in pregnancy
- Family history of tetralogy of fallot
- Viral illness during pregnancy like Rubella.
- presence of Down syndrome or DiGeorge syndrome
Screening
There is insufficient evidence to recommend routine screening for pentalogy of fallot.
Natural History, Complications, and Prognosis
If left untreated, patients with pentalogy of fallot may progress to develop finger clubbing, stunted growth, cardiac arrhythmias, hypoplastic pulmonary artery and polycythemia with relative iron deficiency.[6] Prognosis is generally excellent provided the VSD has been closed and the right ventricular outflow tract has been relieved,[7]
Diagnosis
Diagnostic Study of Choice
There are no established criteria for the diagnosis of pentalogy fallot.
History and Symptoms
The hallmark of pentalogy of fallot is cyanosis. A positive history of cyanosis and easy fatigability leading to squatting during exercise is suggestive of cyanotic congenital heart defct [8] . The most common symptoms of pentalogy of fallot include cyanosis, easy fatigabillity , and hypercyanotic spells with crying , feeding and defecating[9]
Physical Examination
Appearance
- patients with pentalogy of fallot usually appear small due to failure to thrive.
- patients may be found in squatting position( compensatory mechanism)
Vital Signs
- Tachycardia with regular pulse
- Tachypnea
- low grade fever in patients with concomitant infective endocarditis
Skin
- cyanosis may be present
HEENT
- Retinal vessel engorgement may be present
pulmonary
- Pulmonary examination of patients with tetralogy of Fallot is usually normal.
Heart
A thrill may be present at left sternal border.
- A right ventricular impulse may be prominent.
- First heart sound (S1) is normal
- Second heart sound (S2) is single as P2 is absent.
- A harsh systolic ejection murmur best heard at the left sternal border is usually present.
- The loudness and length of systolic murmur is inversely proportional to the severity of right ventricular outflow tract obstruction (RVOTO). In other words as the RVOTO *worsens, the murmur softens. The more cyanotic the patient, the softer the murmur.
- As the RVOTO progresses towards occlusion the right ventricular blood is diverted to left ventricle through ventricular septal defect. This causes the pulmonic murmur to become shorter and softer.
- P2 is faint and delayed in mild cyanosis and inaudible in severe cyanosis.
- A diastolic murmur may be heard due to aortic regurgitation.
Abdomen
- Abdominal examination of patients with tetralogy of Fallot is usually normal.
Extremities
- Clubbing
- Cyanosis is most prominent at lips and nail beds
Laboratory Findings
Some patients with pentalogy of fallot may have polycythemia [10] which is usually suggestive of worsening hypoxia and compensatory production of erythropoetin.
.
Electrocardiogram
An ECG may be helpful in the diagnosis of pentalogy of fallot [11] Findings on an ECG suggestive of pentalogy of fallot include right axis deviation and right ventricular hypertrophy.
X-ray
An x-ray may be helpful in the diagnosis of pentalogy of Fallot. Findings on an x-ray suggestive of pentalogy of fallot include boot shaped heart or coeur en sabot.[12]
.
Echocardiography or Ultrasound
Echocardiography may be helpful in the diagnosis of pentalogy of fallot. Findings on an echocardiography diagnostic of pentallogy of fallot include Ventricular septal defect, Atrial septal defect , Right ventricular outflow tract obstruction and overriding aorta[13]
CT scan
Thoracic CT angiography may be helpful in the diagnosis of pentallogy of fallot. Findings on CT scan diagnostic of pentalogy of fallot include ventricular septal defect, right ventricular hypertrophy, pulmonary atresia and major aortopulmonary collateral arteries.[14]
MRI
cardiac MRI may be helpful in the diagnosis of pentalogy of fallot. Findings on MRI diagnostic of pentalogy of fallot include RVOT stenosis, VSD, ASD,Overriding aorta, right ventricular hypertrophy and hypoplastic pulmonary arteries.[14]
Other Imaging Findings
Other imaging findings for pentalogy of fallot include Right ventricular angiopraphy, which demonstrates infundibular and pulmonary artery anatomy, and left ventricular angiography, which demonstrates VSD, ASD, and Overiding aorta [15]
Other Diagnostic Studies
There are no other diagnostic studies associated with pentalogy of Fallot
Treatment
Medical Therapy
The mainstay of treatment for pentalogy of fallot is Surgery.[16]
Pharmacologic medical therapy is recommended among patients with severe RVOTO and hypercyanotic spells[17]
Pharmacologic medical therapies for pentalogy of fallot include [18]
- prostaglandin E1 in neonates with ductal dependent pulmonary blood flow
- Morphine and ketamine for sedation
- vasopressors like phenylephrine
- propanolol to decrease the need for palliative surgical intervention.
- iron treatment to decrease frequency of spells.
Patients with hypercyanotic spells are treated with oxygen,volume expansion and morphine sedation.
Surgery
Surgery is the mainstay of treatment for pentalogy of fallot. interventional procedures are used to relieve pulmonary obstructions and embolize colaterals. different surgical procedures can be done to treat pentalogy of fallot and it includes
- pulmonary valvotomy( for stenotic pulmonic valve)
- pulmonary valvectomy( for small and thickened pulmonic valve)
- closure of ASD/VSD
- shunt surgery for severe cyanosis or in patients with frequent spells in the first year of life
- Blalock -Taussig Shunt- communication between the right or left pulmonary artery and the right or left subclavian artery.
- Waterson-Cooley Shunt- communication between the ascending aorta with the right pulmonary artery
- Potts shunt-communication between the descending aorta and left pulmonary artery
- Central shunt- Communication between the main pulmonary artery and ascending aorta.[19]
Primary Prevention
There are no established measures for the primary prevention of [pentalogy of fallot ].
Secondary Prevention
There are no established measures for the secondary prevention of [pentalogy of fallot].
Prevention of Cyanosis
The following factors may reduce systemic vascular resistance (SVR) and exacerbate shunting which in turn exacerbate cyanosis and should be avoided if at all possible:
- Acidosis
- Bathing in hot water
- Fever
- Stress
- Infection
- Posture (upright, not squatting)
- Exercise
- Beta-adrenergic agonists
- Dehydration
- Closure of the patent ductus arteriosus
Prevention of Infective Endocarditis
Antibiotic prophylaxis should be administered before respiratory and oral procedures.
References
- ↑ 1.0 1.1 Diaz-Frias J, Guillaume M. PMID 30020660. Missing or empty
|title=(help) - ↑ 2.0 2.1 Apitz, Christian; Webb, Gary D; Redington, Andrew N (2009). "Tetralogy of Fallot". The Lancet. 374 (9699): 1462–1471. doi:10.1016/S0140-6736(09)60657-7. ISSN 0140-6736.
- ↑ 3.0 3.1 Beig JR, Ahmed W, Hafeez I, Gupta A, Tramboo NA, Rather HA (2014). "Pentalogy of fallot with a single coronary artery: a rare case report". J Tehran Heart Cent. 9 (3): 132–4. PMC 4393836. PMID 25870631.
- ↑ Braun-Falco, Markus; Mankin, Henry J.; Wenger, Sharon L.; Braun-Falco, Markus; Kendall, Stephan DiSean; Blobe, Gerard C.; Weber, Christoph K.; Lorenz, Richard; Adler, Guido; Whitcomb, David C.; Yadav, Dhiraj; Bode, Johannes; Wabitsch, Martin; Debatin, Klaus-Michael; Posovzsky, Pamela Fischer; Hassan, Akmal; Megahed, Mosaad; Lundgren, Tord M.; Pfister, Markus; Zenner, Hans-Peter; Berardi, Rossana; Pierantoni, Chiara; Scartozzi, Mario; Cascinu, Stefano; Hendy, Geoffrey N.; Schwarz, Johannes; Storch, Alexander; Schnog, John-John B.; Gerdes, Victor E. A.; Schneider, Susanne A.; Bhatia, Kailash P.; Gittenberger-de Groot, Adriana C.; Bökenkamp, Regina; DeRuiter, Marco C.; Leung, Alexander K. C.; Wong, Andrew L.; Lang, Undine E.; Leung, Alexander K. C.; Leung, Alexander K. C.; Seyhan, Muammer; Hofmann, Silke; Bruckner-Tuderman, Leena; Hofmann, Silke; Bruckner-Tuderman, Leena; Hofmann, Silke; Bruckner-Tuderman, Leena; Kopp, Peter; Forrest, Douglas; Misirlioğlu, Emine Dibek; Alpan, Nursel; Oette, Mark; Imazio, Massimo; Chinnaiyan, Kavitha M.; Mehta, Laxmi S.; Bhat, Mushtaq A.; Bhat, Javeed I.; Stöber, Gerald; Reis, André; Rémi, Jan; Noachtar, Soheyl; Jurkat-Rott, Karin; Lehmann-Horn, Frank; Holzhausen, Marinella; Vergnolle, Nathalie; Schillinger, Martin; Gdynia, Hans-Jürgen; Ludolph, Albert C.; Namdar, Thomas; Eisenberger, Claus Ferdinand; Knoefel, Wolfram Trudo; Ginés, Pere; Guevara, Mónica; Cuesta-Muñoz, Antonio L.; Eijer, Henk; Böhm, Markus; Luger, Thomas A.; Güttler, Flemming; Guldberg, Per; Koch, Richard; Moseley, Kathryn; Eisenhofer, Graeme; Pacak, Karel; Leonard, James V.; Jaeken, Jaak; Becker, Michael A.; Stephani, Ulrich; Frazier, Kendall S.; Böhm, Markus; Luger, Thomas A.; Leung, Alexander K. C.; Sauve, Reginald S.; Matejas, Verena; Zenker, Martin; Leung, Alexander K. C.; Leung, Alexander K. C.; Robson, William Lane M.; Beissert, Stefan; Leung, Alexander K. C.; Robson, William Lane M.; Woo, Tom Y.; Leung, Alexander K. C.; Cate, Hugo Ten; Light, Richard W.; Bozza, Patricia T.; Salluh, Jorge I.; Jantz, Michael A.; Vargas, Sergio L.; Tomic, Rade; Roman, Jesse; Mobeireek, Abdullah F.; Khalid, Mohammad; Torres, Harrys A.; Chemaly, Roy F.; Tomic, Rade; Roman, Jesse; Light, Richard W.; Dispenzieri, Angela; Krause, Sabine; Lochmüller, Hanns; Weihrauch, Julia; Krieg, Thomas; Kühn, Wolfgang; Walz, Gerd; Merker, Georg H.; Kubitz, Ralf; Häussinger, Dieter; Schnog, John-John B.; Gerdes, Victor E. A.; Musco, Giovanna; Stoll, Guido; Toyka, Klaus V.; Leung, Alexander K. C.; Leung, Alexander K. C.; Robson, William Lane M.; Böhm, Markus; Luger, Thomas A.; Pischik, Elena; Kauppinen, Raili; Frank, Jorge; Schwarz, Thomas; Thapar, Manish; Bonkovsky, Herbert. L.; Wagner, Jeffrey C.; Smith, A. Gordon; Mela, Maria; Thalheimer, Ulrich; Samonakis, Dimitrios; Burroughs, Andrew K.; Mela, Maria; Thalheimer, Ulrich; Samonakis, Dimitrios; Burroughs, Andrew K.; Shastri, Yogesh M.; Stein, Jürgen M.; Segman, Ronnen H.; Shalev, Arieh Y.; Jacob, Giris; Robertson, David; Leung, Alexander K. C.; Robson, William Lane M.; Leung, Alexander K. C.; Lampinen, Katja; Kublickiene, Karolina; Kaaja, Risto; Lenarczyk, Radosław; Kowalski, Oskar; Kalarus, Zbigniew; Wichterle, Dan; Leung, Alexander K. C.; Maguire, Jamie; Mody, Istvan; Janssens, Katrien; Vanhoenacker, Filip; Van Hul, Wim; Gdynia, Hans-Jürgen; Ludolph, Albert C.; Leonard, James V.; Cate, Hugo Ten; Geboes, Karel; Van Assche, Gert; Cate, Hugo Ten; Berden, Jo H. M.; Van Kuppevelt, Toin H.; Rops, Angelique L.; Cate, Hugo Ten; Cate, Hugo Ten; Frank, Jorge; Schwarz, Thomas; Ambros-Rudolph, Christina M.; Lamounier-Zepter, Valéria; Thomas, Christie P.; Thomas, Christie P.; Thomas, Christie P.; Koch, Christian A.; Weinstein, Lee S.; Silve, Caroline; Leung, Alexander K. C.; Uitto, Jouni; Jiang, Qiujie; Leung, Alexander K. C.; Robson, William Lane M.; Leung, Alexander K. C.; Yildiz, Orhan; Kayabas, Uner; Hegele, Richard G.; Tournier, Jean-Nicolas; Halefoğlu, Ahmet Mesrur; Hutson, Mary Redmond; Kirby, Margaret L.; Okada, Fumito; Ando, Yumiko; Ono, Asami; Mori, Hiromu; Moore, Timothy M.; Townsley, Mary I.; Krauth, Maria-T.; Pabinger, Ingrid; Ballmann, Manfred; Hegele, Richard G.; Trow, Terence K.; McLaughlin, Vallerie V.; Hegele, Richard G.; Fetouh Yassin, Atteyet-Alla; Uebing, Anselm; Gatzoulis, Michael A.; Gardiner, Helena M.; Ma, Lucia K.; Ma, Patrick T. S.; Leung, Alexander K. C.; Prieto, Lourdes; Latson, Larry; Keller, Nancy R.; Robertson, David; Fairbanks, Lynette D.; Simmonds, H. Anne; Brunner, Martina; Zouboulis, Christos C.; Everts, Vincent; Helfrich, Miep; Leung, Alexander K. C.; Wong, Andrew L.; Von Den Driesch, Peter; Bitsch, Roland; Bitsch, Roland; Bitsch, Roland; García-Cazorla, Angels; Saudubray, Jean Marie (2009). "Pentalogy of Fallot": 1602–1605. doi:10.1007/978-3-540-29676-8_1393.
- ↑ Silva, Joana A.; Neves, Ana L.; Flor-de-Lima, Filipa; Soares, Paulo; Guimarães, Hercília (2019). "Risk Factors and Outcomes of Tetralogy of Fallot: From Fetal to Neonatal Life". Pediatric Cardiology. 41 (1): 155–164. doi:10.1007/s00246-019-02239-4. ISSN 0172-0643.
- ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ 14.0 14.1 Lapierre, C.; Dubois, J.; Rypens, F.; Raboisson, M.-J.; Déry, J. (2016). "Tetralogy of Fallot: Preoperative assessment with MR and CT imaging". Diagnostic and Interventional Imaging. 97 (5): 531–541. doi:10.1016/j.diii.2016.01.009. ISSN 2211-5684.
- ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help) - ↑ . doi:10.1007/978-3-540-29676-8_1393. Check
|doi=value (help). Missing or empty|title=(help)