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Congenital heart disease cyanotic

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Atif Mohammad, M.D.; Kalsang Dolma, M.B.B.S.[3]

Overview

Overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief: Keri Shafer, M.D. [2]; Kalsang Dolma, M.B.B.S.[3]

Overview

A cyanotic heart defect is a group-type of congenital heart defects (CHDs). The patient appears blue (cyanotic), due to deoxygenated blood bypassing the lungs and entering the systemic circulation. This can be caused by right-to-left or bidirectional shunting, or malposition of the great arteries. Such defects include persistent truncus arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot, transposition of the great vessels, and tricuspid atresia.

References


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Historical Perspective

Historical Perspective

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Historical Perspective

Discovery

  • There is limited information about the historical perspective of [disease name].

OR

  • [Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
  • The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
  • In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
  • In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

Landmark Events in the Development of Treatment Strategies

Impact on Cultural History

Famous Cases

The following are a few famous cases of [disease name]:

References

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Classification

Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief: Keri Shafer, M.D. [2]; Kalsang Dolma, M.B.B.S.[3]

Overview

Classification

Cyanotic heart defects, which account for approximately 25% of all congenital heart disease, include:[1][2][3][4]

References

  1. ↑ Engle MA (February 1976). “Cyanotic congenital heart disease”. Am. J. Cardiol. 37 (2): 283–308. doi:10.1016/0002-9149(76)90324-6. PMID 129000.
  2. ↑ Kothari, Shyam Sunder (1992). “Mechanism of cyanotic spells in tetralogy of Fallot — the missing link?”. International Journal of Cardiology. 37 (1): 1–5. doi:10.1016/0167-5273(92)90125-M. ISSN 0167-5273.
  3. ↑ Gathman GE, Nadas AS (July 1970). “Total anomalous pulmonary venous connection: clinical and physiologic observations of 75 pediatric patients”. Circulation. 42 (1): 143–54. doi:10.1161/01.cir.42.1.143. PMID 5425587.
  4. ↑ Abu-Harb M, Wyllie J, Hey E, Richmond S, Wren C (November 1994). “Presentation of obstructive left heart malformations in infancy”. Arch. Dis. Child. Fetal Neonatal Ed. 71 (3): F179–83. doi:10.1136/fn.71.3.f179. PMC 1061121. PMID 7820713.


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Pathophysiology

Pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Atif Mohammad, M.D.; Kalsang Dolma, M.B.B.S.[3]

Overview

Pathophysiology

Tetrology of Fallot

Total Anomalous Pulmonary Venous Connection

  • In this condition,the right side of heart is receiving blood both from pulmonary and systemic circulation.[4][5]
  • There is a mixing of oxygenated pulmonary venous blood with deoxygenated blood from systemic circulation.
  • The mixing of blood could occur at three levels i.e. supracardiac, infracardiac and cardiac.
  • In the former two the mixing occurs outside the heart and in latter inside the heart (right atrium)

Transpostion of Great Arteries

  • In the TGA the aorta arises from the morphologic right ventricle via a subaortic infundibulum and the pulmonary artery arises from the morphologic left ventricle, without a subpulmonary infundibulum.[6][7][8][9]
  • These ventriculoarterial connection is known as ventriculoarterial discordance.
  • As a consequence, there is a a fibrous continuity between the mitral and pulmonary valve, but no continuity between the tricuspid and aortic valve.
  • The abnormal origin of the great arteries results in an altered spiral relationship.
  • Therefore, the aorta and pulmonary artery run parallel to each other
  • In normal heart thus the circulation is in series.
  • However, in transposition of the great vessels circulation is in parallel

Truncus Arteriosus

  • In truncus arteriosus, the pulmonary arteries are connected to the aorta.
  • A decrease in PVR at birth causes a left to right shunt with evidence of congestive heart failure.
  • These patients have a very high incidence of pulmonary hypertension and vascular disease.

Tricuspid Atresia

  • In tricuspid atresia, there is no continuity between the right atrium and right ventricle. Blood from superior vena cava and inferior vena cava is forced across intra atrial connection into the left heart.
  • As a consequence, oxygen saturation in the left atrial blood is diminished.

Hypoplastic Left Heart Syndrome

  • In patients with hypoplastic left heart syndrome, the left side of the heart is unable to send enough blood to the body.
  • As a result, the right side of the heart must maintain the circulation for both the lungs and the body.
  • The right ventricle can support the circulation to both the lungs and the body for a while, but this extra workload eventually causes the right side of the heart to fail.

Genetics



Associated Conditions



Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

References

  1. ↑ Anderson RH, Jacobs ML (2008). “The anatomy of tetralogy of Fallot with pulmonary stenosis”. Cardiol Young. 18 Suppl 3: 12–21. doi:10.1017/S1047951108003259. PMID 19094375.
  2. ↑ Bashore TM (2007). “Adult congenital heart disease: right ventricular outflow tract lesions”. Circulation. 115 (14): 1933–47. doi:10.1161/CIRCULATIONAHA.105.592345. PMID 17420363.
  3. ↑ Bailliard F, Anderson RH (2009). “Tetralogy of Fallot”. Orphanet J Rare Dis. 4: 2. doi:10.1186/1750-1172-4-2. PMC 2651859. PMID 19144126.
  4. ↑ NEILL CA (December 1956). “Development of the pulmonary veins; with reference to the embryology of anomalies of pulmonary venous return”. Pediatrics. 18 (6): 880–7. PMID 13378917.
  5. ↑ CRAIG JM, DARLING RC, ROTHNEY WB (1957). “Total pulmonary venous drainage into the right side of the heart; report of 17 autopsied cases not associated with other major cardiovascular anomalies”. Lab. Invest. 6 (1): 44–64. PMID 13386206.
  6. ↑ Warnes CA (December 2006). “Transposition of the great arteries”. Circulation. 114 (24): 2699–709. doi:10.1161/CIRCULATIONAHA.105.592352. PMID 17159076.
  7. ↑ Levin, Daniel L. (1977). “d-Transposition of the Great Vessels in the Neonate”. Archives of Internal Medicine. 137 (10): 1421. doi:10.1001/archinte.1977.03630220061015. ISSN 0003-9926.
  8. ↑ Rashkind, William J. (1966). “Creation of an Atrial Septal Defect Without Thoracotomy”. JAMA. 196 (11): 991. doi:10.1001/jama.1966.03100240125026. ISSN 0098-7484.
  9. ↑ Hornung TS, Bernard EJ, Celermajer DS, Jaeggi E, Howman-Giles RB, Chard RB, Hawker RE (November 1999). “Right ventricular dysfunction in congenitally corrected transposition of the great arteries”. Am. J. Cardiol. 84 (9): 1116–9, A10. doi:10.1016/s0002-9149(99)00516-0. PMID 10569681.
  10. ↑ Olson EN (2006). “Gene regulatory networks in the evolution and development of the heart”. Science. 313 (5795): 1922–7. doi:10.1126/science.1132292. PMID 17008524.
  11. ↑ Yang YQ, Gharibeh L, Li RG, Xin YF, Wang J, Liu ZM; et al. (2013). “GATA4 loss-of-function mutations underlie familial tetralogy of fallot”. Hum Mutat. 34 (12): 1662–71. doi:10.1002/humu.22434. PMID 24000169.
  12. ↑ Bruneau BG (2008). “The developmental genetics of congenital heart disease”. Nature. 451 (7181): 943–8. doi:10.1038/nature06801. PMID 18288184.
  13. ↑ Bruneau BG, Srivastava D (2014). “Congenital heart disease: entering a new era of human genetics”. Circ Res. 114 (4): 598–9. doi:10.1161/CIRCRESAHA.113.303060. PMID 24526674.
  14. ↑ Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R; et al. (2001). “Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation”. Nat Genet. 28 (3): 276–80. doi:10.1038/90123. PMID 11431700.
  15. ↑ Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA; et al. (2003). “GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5”. Nature. 424 (6947): 443–7. doi:10.1038/nature01827. PMID 12845333.
  16. ↑ Sheng W, Qian Y, Wang H, Ma X, Zhang P, Diao L; et al. (2013). “DNA methylation status of NKX2-5, GATA4 and HAND1 in patients with tetralogy of fallot”. BMC Med Genomics. 6: 46. doi:10.1186/1755-8794-6-46. PMC 3819647. PMID 24182332.
  17. ↑ Phelan, K.; McDermid, H.E. (2011). “The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)”. Molecular Syndromology. doi:10.1159/000334260. ISSN 1661-8777.
  18. ↑ Bleyl, Steven B.; Saijoh, Yukio; Bax, Noortje A.M.; Gittenberger-de Groot, Adriana C.; Wisse, Lambertus J.; Chapman, Susan C.; Hunter, Jennifer; Shiratori, Hidetaka; Hamada, Hiroshi; Yamada, Shigehito; Shiota, Kohei; Klewer, Scott E.; Leppert, Mark F.; Schoenwolf, Gary C. (2010). “Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms”. Human Molecular Genetics. 19 (7): 1286–1301. doi:10.1093/hmg/ddq005. ISSN 0964-6906.
  19. ↑ Dabizzi RP, Caprioli G, Aiazzi L, Castelli C, Baldrighi G, Parenzan L, Baldrighi V (January 1980). “Distribution and anomalies of coronary arteries in tetralogy of fallot”. Circulation. 61 (1): 95–102. doi:10.1161/01.cir.61.1.95. PMID 7349946.
  20. ↑ Satyanarayana Rao, B.N.; Anderson, Ray C.; Edwards, Jesse E. (1971). “Anatomic variations in the tetralogy of Fallot”. American Heart Journal. 81 (3): 361–371. doi:10.1016/0002-8703(71)90106-2. ISSN 0002-8703.
  21. ↑ Muster, Alexander J.; Paul, Milton H.; Nikaidoh, Hisashi (1973). “Tetralogy of Fallot Associated with Total Anomalous Pulmonary Venous Drainage”. Chest. 64 (3): 323–326. doi:10.1378/chest.64.3.323. ISSN 0012-3692.
  22. ↑ Saifi, Comron; Matsumoto, Hiroko; Vitale, Michael G.; Roye, David P.; Hyman, Joshua E. (2012). “The incidence of congenital scoliosis in infants with tetralogy of Fallot based on chest radiographs”. Journal of Pediatric Orthopaedics B. 21 (4): 313–316. doi:10.1097/BPB.0b013e3283536872. ISSN 1060-152X.


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Causes

Causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Atif Mohammad, M.D.

Overview

Causes

Causes in Alphabetical Order

References


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Differentiating Cyanotic heart defect from other Diseases

Differentiating Cyanotic heart defect from other Diseases

For the WikiDoc page for this topic, click here

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.,Eiman Ghaffarpasand, M.D. [2],Kalsang Dolma, M.B.B.S.[3]

Overview

Differentiating Cyanotic Heart Defect from other Diseases

  • Respiratory Causes: The hyperoxia test is useful in distinguishing cardiac from pulmonary causes of cyanosis in the neonate
Diseases Cyanosis Clinical manifestations Para-clinical findings Gold standard Additional findings
Symptoms Physical examination
Lab Findings Imaging
Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation CBC ABG Electrolytes Other X-ray CT scan Other
Pulmonary diseases Airway disorder Severe croup[1] + – + +/- – – – Stridor Lymphocytosis Normal Normal – Steeple sign Normal Distended hypopharynx during inspiration Clinical findings Intercostal and subcostal retraction, Barking cough
Epiglottitis[2] + – + + – – – Stridor Leukocytosis with neutrophilia Normal Normal – Thumb sign Normal – Laryngoscopy Muffled voice, Drooling
Foreign body aspiration[3] + – + – +/- – – Decreased breath sounds, Wheezing Normal Normal Normal – Hyperinflation, Atelectasis, Objects Foreign body entrapment with edema or granulation tissue – Bronchoscopy Mediastinitis
Bacterial tracheitis[4] + – + + + – – Inspiratory stridor Leukocytosis Normal Normal Blood culture, Gram stain Irregular tracheal margin Normal Steeple sign (confusing) Laryngotracheobronchoscopy Brassy cough, Hoarseness
Sleep apnea[5] – + + – – – – Normal Polycythemia ↓O2, ↑CO2 Normal – Normal Normal Polysomnography Polysomnography Nightmares, Snoring
Chronic bronchitis[6] – + + +/- +/- + – Rales, crackles, Wheeze Leukocytosis ↓O2, ↑CO2, Respiratory acidosis Hypokalemia, Hypernatremia Gram stain of sputum Elongated heart, Flattened diaphragms, Prominent hilar vasculature Bronchial wall thickening with increased bronchovascular markings – HRCT Productive cough, Chest tightness
Atelectasis[7] – + + – + – – Localized diminished breath sounds, Wheeze Leukocytosis ↓O2, ↑CO2, Respiratory acidosis Normal – Localized increased opacity, Deviation toward the atelectasis Local crowding of pulmonary vessels and bronchi MRI for distinguishing obstructive from non-obstructive HRCT Cough, Shallow breathing
Parenchymal disorder Alveolitis[8] +/- + + + + +/- – Wheeze, Crackles Leukocytosis, Eosinophilia ↓O2, ↑CO2 Normal ↑ESR, ↑CRP Scattered opacities, Fine reticulation Homogeneous ground-glass opacity – HRCT PLUS Clinical findings Malaise, Chills, Headache
Pneumonia[9] – + + + + +/- – Rales, Crackles, Wheeze, Pleural friction rub Leukocytosis with neutrophilia Normal Hyponatremia – Entire lobe consolidated, Air bronchograms Focal ground-glass opacity – HRCT Tachycardia, Bradycardia (Legionella)
Asthma (Late)[10] – + + – +/- +/- – End expiratory wheeze Eosinophilia ↓O2, ↑CO2 Normal ↑ IgE Atelectasis Allergic bronchopulmonary aspergillosis, Bronchiectasis – Spirometry before and after bronchodilator Triad of asthma, nasal polyps, and rash is indicative of aspirin sensitivity.
Cystic fibrosis[11] + – +/- +/- + – Wheeze, Crackles Normal ↓O2, ↑CO2 Increased sweat chloride Sweat chloride test Hyperinflation, Nodules Peribronchial thickening, Bronchiectasis – Sweat chloride test Absent vas deferens
COPD

(Severe emphysema)[12]

+ – + +/- + +/- +/- Reduced breath sounds, Wheeze, Inspiratory crackles Polycythemia ↓O2, ↑CO2 Normal Alpha 1-antitrypsin test Elongated heart, Flattened diaphragms, Prominent hilar vasculature Bullae – HRCT Pulmonary hypertension, Right heart failure
Tuberculosis[13] – + + + + +/- – Reduced breath sounds, Wheeze, Inspiratory crackles Leukocytosis, ↑Lymphocyte ↓O2, ↑CO2 Hyponatremia, Hyperkalemia, Hypochloremia PPD, interferon-gamma release assay (IGRA) Dense, homogeneous parenchymal consolidation Nodules with low-density centers and rim enhancement Fluorodeoxyglucose positron emission tomography/CT (FDG PET/CT) Sputum culture, QuantiFERON-TB Gold (QFT) Loss of appetite, Night sweats
Pulmonary fibrosis[14] – + + – + + – Inspiratory crackles Anemia ↓O2, ↑CO2 Normal Matrix metalloproteinases (MMPs) Honeycombing Traction bronchiectasis,

Interlobular septal thickening

HRCT HRCT Fatigue, Weight loss
Pneumoconiosis[15] – + + – +/- +/- – End expiratory wheeze Leukocytosis, Anemia ↓O2, ↑CO2, Respiratory acidosis Hyper/Hypocalcemia,

Hypermagnesemia

– Small to large round nodular opacities Diffuse distribution of small nodules MRI and PET-CT scan CT/HRCT scan Tightness in the chest
Lung cancer[16] – + + – +/- + – Absence of breath sounds, Stridor, Wheezing Leukocytosis, Anemia ↓O2, ↑CO2 Hyponatremia ↑CRP, ↑ESR Pulmonary nodule or mass,

Mediastinal widening

Hilar lymphadenopathy

Massive lymphadenopathy, Direct mediastinal invasion MRI, PET-CT scan, Bronchoscopy Low dose computed tomography scan (LDCT) Weight loss, Loss of appetite
Acute respiratory distress syndrome[17] – + + +/- + – – Inspiratory crackles Leukopenia/Leukocytosis ↓O2, ↓CO2, Respiratory alkalosis Hyponatremia, Hyperkalemia ↑BNP, ↑Von Willebrand factor (VWF) Bilateral pulmonary infiltrates (patchy to diffuse) Emphysema, Pneumothorax and pneumomediastinum, Mediastinal lymphadenopathy Invasive Hemodynamic Monitoring (PCWP), Bronchoscopy Chest CT scan Tachypnea, Muscle weakness
Pulmonary vascular disorders Massive pulmonary embolism[18] + – + +/- + – +/- Reduced breath sounds, Crackles, Loud P2 Leukocytosis ↓O2, ↑CO2, Respiratory acidosis Normal D-dimer, BNP Fleischner sign, Hampton hump, Westermark sign, Pleural effusion Filling defects in the pulmonary vasculature Spiral CT pulmonary angiogram Spiral CT pulmonary angiogram Tachycardia, Shock, Pulmonary hypertension
Pulmonary arterio-venous malformation[19][20][21] – + + – + + – Pulmonary bruit Normal ↓O2, ↑CO2, Respiratory acidosis Normal – One or more rounded or multilobular opacities Connecting vessel in hilum Magnetic resonance angiography, Echocardiography Contrast enhanced magnetic resonance angiography Cerebral arteriovenous malformation
Pulmonary hypertension[22] – + + – +/- +/- – Tricuspid regurgitation murmur, Pulmonic insufficiency murmur Mild anemia ↓O2, ↑CO2 Hypernatremia ↑BNP, ↑ANP Right deviated cardiac apex,

Prominent pulmonary artery

Ill-defined nodules, Interlobular septal thickening CT pulmonary angiography (CTPA), MRA Cardiac catheterization (PCWP) Fatigue, Inability to exercise
Chest wall disorders Flail chest[23] + – + – + – – Normal Normal ↓O2, ↑CO2 Normal – ≥3 adjacent ribs with segmental fractures, >5 adjacent rib fractures Normal – CXR Bruises over chest
Pneumothorax[24] + – + – + – – Diminished breath sounds Normal ↓O2, ↑CO2 Normal – No lung marking on one side, Collapsed lung Loculated air in thoracic cavity M-mode ultrasonography Chest CT scan Tachypnea
Disease Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation CBC ABG Electrolytes Other X-ray CT scan Other Gold standard Additional findings
Cardiac diseases Congenital disorders Atrioventricular canal defect[25] +/- + + – +/- +/- – Wheezing,Holosystolic or systolic ejection murmur Normal Normal Normal Pulse oximetry Cardiomegaly, Increased pulmonary vascular markings Normal Echocardiography, MRI Echocardiography Tachypnea, Lack of appetite, Pale skin color, Excessive sweating
Ebstein anomaly[26] – + +/- – +/- – – Loud S1 Normal Normal Normal Pulse oximetry Cardiomegaly, “Box shape” heart Apical displacement of the septal and posterior leaflets of the tricuspid valve “Atrialisation” of the right ventricle in MRI, Tricuspid regurgitation in echocardiography Echocardiography Fatigue, Palpitations
Tetralogy of Fallot[27] – + +/- – +/- – – Harsh systolic murmur Normal Normal Normal Pulse oximetry “Boot-shaped” heart with an upturned cardiac apex Aortopulmonary collateral vessels Peripheral pulmonary stenosis and atresia in echocardiography Echocardiography Fainting, Palpitation
Pulmonic stenosis[28] – + + – + +/- – Crescendo-decrescendo ejection murmur Schistocyte ↓O2 Normal Pulse oximetry Right ventricular hypertrophy, Dilated main pulmonary artery Stenotic segment, Post stenotic dilatation Severity of the stenosis by velocity encoded phase contrast (VEC) cine sequences Echocardiography Fainting, Palpitation
Total anomalous pulmonary venous connection[29] – + + – +/- +/- – Systolic murmur over the pulmonary area Normal ↓O2 Normal Pulse oximetry Snowman sign Anomalous venous return Blind ended left atrium with no connecting veins in echocardiography Echocardiography Pounding heart, Weak pulse, Extreme sleepiness
Transposition of the great vessels[30] – + + – +/- +/- – Diastolic and Systolic murmur Normal ↓O2 Normal Pulse oximetry Cardiomegaly with narrow superior mediastinum (egg on a string sign) Abnormal great vessel anatomy Flow dynamics on Steady-state free precession (SSFP) MRI Echocardiography Lack of appetite, Poor weight gain
Truncus arteriosus[31] – + +/- – +/- +/- – Holosystolic or ejection type murmur Normal ↓O2 Normal Pulse oximetry Moderate cardiomegaly, pulmonary plethora, Widened mediastinum Single cardiac trunk Anomalous anatomy in MRI Echocardiography Fatigue, Sweating, Pale or cool skin
Patent ductus arteriosus[32] – + +/- – +/- +/- – Continuous machinery murmur Normal ↓O2, ↑CO2 Normal Pulse oximetry Cardiomegaly, Aortopulmonary window obsecuration Tortuous morphology of ductus (Krichenko classification) Spiral CT pulmonary angiogram Echocardiography Failure to thrive, Respiratory distress
Acquired disorders Heart failure[33] + – + +/- + – + Coarse crackles, S3 Anemia ↓O2, ↑CO2 Hyponatremia, Hypokalemia, Hypomagnesemia Elevated BNP Pleural effusion, Cardiomegaly Kerley B lines Normal Radioisotope scan Echocardiography Generalized edema, Hepatomegaly
Valvular heart disease[34] + – + – – – + Murmurs Schistocyte Normal Normal Hyperthyroidism Valve calcification Normal Valvular dysfunction in echocardiography Echocardiography Syncope, Palpitation
Myocardial infarction[35] – + + +/- + – – S3 and S4 Normal Normal Hyponatremia, Hypokalemia Elevated troponin I and CKMB Rolling out other causes Coronary luminal narrowing in CT perfusion scan Wall motion abnormality in echocardiography Cardiac troponin I Dizziness, Fatigue, Lightheadedness, Cold sweat
Cardiogenic shock[36] +/- + + – – – + Muffled heart sound Anemia ↓O2, ↑CO2 Hyperkalemia ↓PaO2 in pulse oximetry Normal Normal Echocardiography Clinical findings Tachypnea, Palpitation, Hypotension, Weak pulse
Cardiomyopathy[37] – + + – + + + S3 and S4 Lymphocytosis ↓O2, ↑CO2 Normal ↓PaO2 in pulse oximetry Enlarged left ventricle and atria, Pulmonary edema Normal MRI Endomyocardial biopsy Arrhythmia, Bloating
Heart tumors[38] – + + – +/- +/- +/- Early diastolic tumor plop Normal Normal Normal Mild ↓PaO2 in pulse oximetry Calcification in lateral view Intracardiac mass Echocardiography Histologic diagnosis (biopsy) Syncope, Weight loss
Mitral Stenosis[39] – + + – +/- +/- +/- Diastolic murmur Normal Normal Normal Mild ↓PaO2 in pulse oximetry Left atrial enlargement, Mitral annular calcification Secondary pulmonary hemosiderosis Velocity-encoded cine-magnetic resonance imaging (VEC-MRI) Echocardiography Dizziness, Hemoptysis
Vascular disease Arterial disorders Acrocyanosis[40] + – +/- – – + – Normal Anemia, Leukocytosis ↓O2, ↑CO2 Hypercalcemia ↓PaO2 in pulse oximetry Normal Normal – Clinical findings Brittle nails, Telangiectasia
Arterial embolism[41] + – + – + +/- – Normal Normal Normal Hyperkalemia ↓PaO2 in pulse oximetry Normal Normal Transesophageal echocardiography (TEE) Clinical findings Headache, Decreased sensation
Raynaud’s Phenomenon[42] + – – – – + – Normal Polycythemia ↓O2 Normal Mild ↓PaO2 in pulse oximetry Normal Normal – Clinical findings Sensitivity to cold, Decreased sensation
Venous disorders Superior vena cava obstruction[43] + – +/- – +/- +/- + Normal Polycythemia ↓O2 Normal ↓PaO2 in pulse oximetry Superior mediastinal widening, Right hilar prominence Thrombosis, Mediastinal mass or lymphadenopathy, Associated lung mass – Chest CT scan Headache,

Facial swelling

Venous stasis[44] + – – – – +/- + Normal Polycythemia ↓O2 Hypercalcemia Normal Normal Normal Color-flow duplex ultrasound Color-flow duplex ultrasound Leg swelling, Pain during walking,

Leg ulcers

Disease Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation CBC ABG Electrolytes Other X-ray CT scan Other Gold standard Additional findings
Hematologic diseases Methemoglobinemia[45] – + + +/- + – – Wheezing Anemia, Methemoglobinemia Normal PaO2, ↑SaO2, “Saturation gap” Normal ↓SaO2 in pulse oximetry Normal Normal Echocardiography for ruling out other causes Co-oximetry, ABG paired with pulse oximetry. Serum methemoglobin levels Headache, Altered mental status, Delirium, Seizure, Coma
Polycythemia[46] + + + +/- +/- + – Normal ↑RBC, ↑WBC, ↑HGB, ↑Plt ↓O2 Hyperkalemia ↑Leukocyte alkaline phosphatase, ↑Ferritin, ↑Erythropoietin AVM, COPD, pulmonary hypertension Normal Abdominal ultrasound or renal vascular studies for ruling out renal artery stenosis RBC mass (RCM) and plasma volume measurement Itchiness, Headache. Dizziness. Blurred vision
Neurological disease Breath-holding spells[47] – + + – +/- – – Wheezing Hypochromic microcytic anemia ↓O2 Hypocalcemia, Hypokalemia Iron deficiency Ruling out foreign body aspiration Normal EEG monitoring Clinical findings Fainting, Twitching muscles, Seizure
Seizure[48] – + + +/- – – – Normal Normal ↓O2, ↑CO2 Hyponatremia, Hypo/Hypercalcemia ↑CPK, ↑LDH, Normal Normal EEG EEG Fainting, Tonic-clonic movements
Coma[49] – + – – – – +/- Wheezing Normal ↓O2, ↑CO2 Normal – Underlying disease Underlying disease – Glasgow Coma Scale (GCS) Depressed brainstem reflexes, Agonal breathing
Head trauma[50] – + + – – – – Normal Normal ↓O2, ↑CO2 Normal – Skull fracture Intracranial hemorrhage MRI CT scan Nausea, Hypertension, Bradycardia,Tachypnea
Miscellaneous High altitude exposure[51] +/- + + – +/- + – Wheezing Polycythemia ↓O2, ↓CO2, Respiratory alkalosis Hyperphosphatemia, Hypercalcemia, Hyponatremia, Hypokalemia, Hypomagnesemia Decreased bicarbonate Central interstitial edema Pulmonary consolidation – Hypoxic challenge test Dizziness, Coma, Death
Septic shock[52] + – + + +/- – – Rales, crackles, Wheeze, Pleural friction rub Leukocytosis with neutrophilia ↓O2, ↑CO2, Metabolic acidosis Hyperkalemia ↑ESR, ↑CRP Consolidation Pulmonary infiltration Echocardiography Blood culture Chills, Hypothermia, Loss of consciousness
Smoke inhalation[53] +/- + + – + – – Wheezing Anemia, Carboxyhemoglobin ↓O2, ↑CO2, Respiratory acidosis Normal CO-oximetry Diffuse opacities Pulmonary infiltration Pulmonary function testing Bronchoscopy Cough, Hoarseness, Hemoptysis, Headache, Fainting
Cold exposure[54] + – +/- – – – – Normal Leukopenia, ↑RBC ↓O2, ↑CO2, Metabolic acidosis Hypokalemia, Hypocalcemia Hyperglycemia, ↑CK Normal Normal – Clinical findings Confusion, Tachycardia/Bradycardia, Coma

References

  1. ↑ Cherry, James D. (2008). “Croup”. New England Journal of Medicine. 358 (4): 384–391. doi:10.1056/NEJMcp072022. ISSN 0028-4793.
  2. ↑ Abdallah C (2012). “Acute epiglottitis: Trends, diagnosis and management”. Saudi J Anaesth. 6 (3): 279–81. doi:10.4103/1658-354X.101222. PMC 3498669. PMID 23162404.
  3. ↑ Qureshi A, Behzadi A (2008). “Foreign-body aspiration in an adult”. Can J Surg. 51 (3): E69–70. PMC 2496600. PMID 18682760.
  4. ↑ Liston SL, Gehrz RC, Siegel LG, Tilelli J (August 1983). “Bacterial tracheitis”. Am. J. Dis. Child. 137 (8): 764–7. PMID 6869336.
  5. ↑ Spicuzza L, Caruso D, Di Maria G (2015). “Obstructive sleep apnoea syndrome and its management”. Ther Adv Chronic Dis. 6 (5): 273–85. doi:10.1177/2040622315590318. PMC 4549693. PMID 26336596.
  6. ↑ Kim V, Criner GJ (2013). “Chronic bronchitis and chronic obstructive pulmonary disease”. Am J Respir Crit Care Med. 187 (3): 228–37. doi:10.1164/rccm.201210-1843CI. PMC 4951627. PMID 23204254.
  7. ↑ Peroni DG, Boner AL (September 2000). “Atelectasis: mechanisms, diagnosis and management”. Paediatr Respir Rev. 1 (3): 274–8. doi:10.1053/prrv.2000.0059. PMID 12531090.
  8. ↑ Lee JS, Im JG, Ahn JM, Kim YM, Han MC (August 1992). “Fibrosing alveolitis: prognostic implication of ground-glass attenuation at high-resolution CT”. Radiology. 184 (2): 451–4. doi:10.1148/radiology.184.2.1620846. PMID 1620846.
  9. ↑ Simonetti AF, Viasus D, Garcia-Vidal C, Carratalà J (2014). “Management of community-acquired pneumonia in older adults”. Ther Adv Infect Dis. 2 (1): 3–16. doi:10.1177/2049936113518041. PMC 4072047. PMID 25165554.
  10. ↑ Litonjua AA (June 2009). “Childhood asthma may be a consequence of vitamin D deficiency”. Curr Opin Allergy Clin Immunol. 9 (3): 202–7. doi:10.1097/ACI.0b013e32832b36cd. PMID 19365260.
  11. ↑ “Cystic fibrosis – Genetics Home Reference”.
  12. ↑ Qureshi H, Sharafkhaneh A, Hanania NA (2014). “Chronic obstructive pulmonary disease exacerbations: latest evidence and clinical implications”. Ther Adv Chronic Dis. 5 (5): 212–27. doi:10.1177/2040622314532862. PMC 4131503. PMID 25177479.
  13. ↑ Olalekan, Adebimpe Wasiu; Oluwaseun, Faremi Ayodeji; Oladele, Hassan Abdul-Wasiu; Akeem, Adeyemi Damilare (2015). “Evaluation of electrolyte imbalance among tuberculosis patients receiving treatments in Southwestern Nigeria”. Alexandria Journal of Medicine. 51 (3): 255–260. doi:10.1016/j.ajme.2014.10.003. ISSN 2090-5068.
  14. ↑ Shaw J, Marshall T, Morris H, Hayton C, Chaudhuri N (2017). “Idiopathic pulmonary fibrosis: a holistic approach to disease management in the antifibrotic age”. J Thorac Dis. 9 (11): 4700–4707. doi:10.21037/jtd.2017.10.111. PMC 5721024. PMID 29268540.
  15. ↑ Yen CM, Lin CL, Lin MC, Chen HY, Lu NH, Kao CH (2016). “Pneumoconiosis increases the risk of congestive heart failure: A nationwide population-based cohort study”. Medicine (Baltimore). 95 (25): e3972. doi:10.1097/MD.0000000000003972. PMC 4998335. PMID 27336897.
  16. ↑ Hartwig MG, D’Amico TA (June 2010). “Thoracoscopic lobectomy: the gold standard for early-stage lung cancer?”. Ann. Thorac. Surg. 89 (6): S2098–101. doi:10.1016/j.athoracsur.2010.02.102. PMID 20493989.
  17. ↑ Ochiai R (2015). “Mechanical ventilation of acute respiratory distress syndrome”. J Intensive Care. 3 (1): 25. doi:10.1186/s40560-015-0091-6. PMC 4456061. PMID 26045965.
  18. ↑ Bĕlohlávek J, Dytrych V, Linhart A (2013). “Pulmonary embolism, part I: Epidemiology, risk factors and risk stratification, pathophysiology, clinical presentation, diagnosis and nonthrombotic pulmonary embolism”. Exp Clin Cardiol. 18 (2): 129–38. PMC 3718593. PMID 23940438.
  19. ↑ Khurshid I, Downie GH (2002). “Pulmonary arteriovenous malformation”. Postgrad Med J. 78 (918): 191–7. PMC 1742331. PMID 11930021.
  20. ↑ Doshi HM, Robinson S, Chalhoub T, Jack S, Denison A, Gibson G (2009). “Massive spontaneous hemothorax during the immediate postpartum period”. Tex Heart Inst J. 36 (3): 247–9. PMC 2696501. PMID 19568398.
  21. ↑ Chanatry BJ (1992). “Acute hemothorax owing to pulmonary arteriovenous malformation in pregnancy”. Anesth. Analg. 74 (4): 613–5. PMID 1554132.
  22. ↑ Hoeper MM, Ghofrani HA, Grünig E, Klose H, Olschewski H, Rosenkranz S (2017). “Pulmonary Hypertension”. Dtsch Arztebl Int. 114 (5): 73–84. doi:10.3238/arztebl.2017.0073. PMC 5331483. PMID 28241922.
  23. ↑ Pettiford BL, Luketich JD, Landreneau RJ (February 2007). “The management of flail chest”. Thorac Surg Clin. 17 (1): 25–33. doi:10.1016/j.thorsurg.2007.02.005. PMID 17650694.
  24. ↑ Luh SP (2010). “Review: Diagnosis and treatment of primary spontaneous pneumothorax”. J Zhejiang Univ Sci B. 11 (10): 735–44. doi:10.1631/jzus.B1000131. PMC 2950234. PMID 20872980.
  25. ↑ Macris MP, Ott DA, Cooley DA (1992). “Complete atrioventricular canal defect: surgical considerations”. Tex Heart Inst J. 19 (3): 239–43. PMC 326195. PMID 15227445.
  26. ↑ Safi LM, Liberthson RR, Bhatt A (September 2016). “Current Management of Ebstein’s Anomaly in the Adult”. Curr Treat Options Cardiovasc Med. 18 (9): 56. doi:10.1007/s11936-016-0478-2. PMID 27439413.
  27. ↑ Bailliard F, Anderson RH (2009). “Tetralogy of Fallot”. Orphanet J Rare Dis. 4: 2. doi:10.1186/1750-1172-4-2. PMC 2651859. PMID 19144126.
  28. ↑ Yoo BW, Park HK (2013). “Pulmonary stenosis and pulmonary regurgitation: both ends of the spectrum in residual hemodynamic impairment after tetralogy of Fallot repair”. Korean J Pediatr. 56 (6): 235–41. doi:10.3345/kjp.2013.56.6.235. PMC 3693041. PMID 23807889.
  29. ↑ Stein P (March 2007). “Total anomalous pulmonary venous connection”. AORN J. 85 (3): 509–20, quiz 521–4. doi:10.1016/S0001-2092(07)60123-9. PMID 17352891.
  30. ↑ Martins P, Castela E (2008). “Transposition of the great arteries”. Orphanet J Rare Dis. 3: 27. doi:10.1186/1750-1172-3-27. PMC 2577629. PMID 18851735.
  31. ↑ Van Praagh R (1987). “Truncus arteriosus: what is it really and how should it be classified?”. Eur J Cardiothorac Surg. 1 (2): 65–70. PMID 2856609.
  32. ↑ “Patent Ductus Arteriosus – National Library of Medicine – PubMed Health”.
  33. ↑ Inamdar AA, Inamdar AC (2016). “Heart Failure: Diagnosis, Management and Utilization”. J Clin Med. 5 (7). doi:10.3390/jcm5070062. PMC 4961993. PMID 27367736.
  34. ↑ Maganti K, Rigolin VH, Sarano ME, Bonow RO (2010). “Valvular heart disease: diagnosis and management”. Mayo Clin Proc. 85 (5): 483–500. doi:10.4065/mcp.2009.0706. PMC 2861980. PMID 20435842.
  35. ↑ “Myocardial Infarction (Heart Attack): Symptoms – National Library of Medicine – PubMed Health”.
  36. ↑ Werdan K, Ruß M, Buerke M, Delle-Karth G, Geppert A, Schöndube FA; et al. (2012). “Cardiogenic shock due to myocardial infarction: diagnosis, monitoring and treatment: a German-Austrian S3 Guideline”. Dtsch Arztebl Int. 109 (19): 343–51. doi:10.3238/arztebl.2012.0343. PMC 3364528. PMID 22675405.
  37. ↑ Marian AJ, Braunwald E (September 2017). “Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy”. Circ. Res. 121 (7): 749–770. doi:10.1161/CIRCRESAHA.117.311059. PMID 28912181.
  38. ↑ Hoffmeier A, Sindermann JR, Scheld HH, Martens S (2014). “Cardiac tumors–diagnosis and surgical treatment”. Dtsch Arztebl Int. 111 (12): 205–11. doi:10.3238/arztebl.2014.0205. PMC 3983698. PMID 24717305.
  39. ↑ Kannan M, Vijayanand G (2010). “Mitral stenosis and pregnancy: Current concepts in anaesthetic practice”. Indian J Anaesth. 54 (5): 439–44. doi:10.4103/0019-5049.71043. PMC 2991654. PMID 21189882.
  40. ↑ Das S, Maiti A (2013). “Acrocyanosis: an overview”. Indian J Dermatol. 58 (6): 417–20. doi:10.4103/0019-5154.119946. PMC 3827510. PMID 24249890.
  41. ↑ Lyaker MR, Tulman DB, Dimitrova GT, Pin RH, Papadimos TJ (2013). “Arterial embolism”. Int J Crit Illn Inj Sci. 3 (1): 77–87. doi:10.4103/2229-5151.109429. PMC 3665125. PMID 23724391.
  42. ↑ Block JA, Sequeira W (June 2001). “Raynaud’s phenomenon”. Lancet. 357 (9273): 2042–8. doi:10.1016/S0140-6736(00)05118-7. PMID 11438158.
  43. ↑ Cohen R, Mena D, Carbajal-Mendoza R, Matos N, Karki N (2008). “Superior vena cava syndrome: A medical emergency?”. Int J Angiol. 17 (1): 43–6. PMC 2728369. PMID 22477372.
  44. ↑ Fan CM (2005). “Venous pathophysiology”. Semin Intervent Radiol. 22 (3): 157–61. doi:10.1055/s-2005-921949. PMC 3036287. PMID 21326688.
  45. ↑ Ashurst J, Wasson M (July 2011). “Methemoglobinemia: a systematic review of the pathophysiology, detection, and treatment”. Del Med J. 83 (7): 203–8. PMID 21954509.
  46. ↑ Spivak JL (February 2002). “The optimal management of polycythaemia vera”. Br. J. Haematol. 116 (2): 243–54. PMID 11841424.
  47. ↑ Goldman RD (2015). “Breath-holding spells in infants”. Can Fam Physician. 61 (2): 149–50. PMC 4325862. PMID 25676645.
  48. ↑ Goldenberg MM (2010). “Overview of drugs used for epilepsy and seizures: etiology, diagnosis, and treatment”. P T. 35 (7): 392–415. PMC 2912003. PMID 20689626.
  49. ↑ Brown EN, Lydic R, Schiff ND (2010). “General anesthesia, sleep, and coma”. N Engl J Med. 363 (27): 2638–50. doi:10.1056/NEJMra0808281. PMC 3162622. PMID 21190458.
  50. ↑ McAllister TW (2011). “Neurobiological consequences of traumatic brain injury”. Dialogues Clin Neurosci. 13 (3): 287–300. PMC 3182015. PMID 22033563.
  51. ↑ Parati G, Agostoni P, Basnyat B, Bilo G, Brugger H, Coca A, Festi L, Giardini G, Lironcurti A, Luks AM, Maggiorini M, Modesti PA, Swenson ER, Williams B, Bärtsch P, Torlasco C (January 2018). “Clinical recommendations for high altitude exposure of individuals with pre-existing cardiovascular conditions”. Eur. Heart J. doi:10.1093/eurheartj/ehx720. PMID 29340578.
  52. ↑ Hotchkiss RS, Moldawer LL, Opal SM, Reinhart K, Turnbull IR, Vincent JL (2016). “Sepsis and septic shock”. Nat Rev Dis Primers. 2: 16045. doi:10.1038/nrdp.2016.45. PMC 5538252. PMID 28117397.
  53. ↑ Rehberg S, Maybauer MO, Enkhbaatar P, Maybauer DM, Yamamoto Y, Traber DL (2009). “Pathophysiology, management and treatment of smoke inhalation injury”. Expert Rev Respir Med. 3 (3): 283–297. doi:10.1586/ERS.09.21. PMC 2722076. PMID 20161170.
  54. ↑ Marriott, Bernadette (1996). Nutritional needs in cold and in high-altitude environments : applications for military personnel in field operations. Washington, D.C: National Academy Press. ISBN 0-309-05484-2.


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Epidemiology and Demographics

Epidemiology and Demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]

Overview

Epidemiology and Demographics

Cyanotic heart disease account for approximately 15 percent of all CHD cases and one-third of potentially fatal forms of congenital heart disease.[1]

References

  1. ↑ Wren C, Reinhardt Z, Khawaja K (2008). “Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations”. Arch Dis Child Fetal Neonatal Ed. 93 (1): F33–5. doi:10.1136/adc.2007.119032. PMID 17556383.


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Risk Factors

Risk Factors

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

Risk Factors

  • Chemical exposure
  • Genetic and chromosomal syndromes, such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, and Ellis-van Creveld syndrome
  • Infections (such as rubella) during pregnancy
  • Poorly controlled blood sugar levels in women who have diabetes during pregnancy
  • Some prescription and over-the-counter medications and street drugs used during pregnancy

References


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Screening

Screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with:

  • [Condition 1]
  • [Condition 2]
  • [Condition 3]

References


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Natural History, Complications and Prognosis

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: Keri Shafer, M.D. [2], Atif Mohammad, M.D.; Kalsang Dolma, M.B.B.S.[3]

Overview

Natural History

Complications

The outlook depends on the specific disorder.

Complications of cyanotic heart disease include:

  • Abnormal heart rhythms and sudden death
  • Chronic high blood pressure in the blood vessels of the lung
  • Heart failure
  • Infection in the heart
  • Stroke
  • Brain Abscess
  • Thrombosis/Hemorrhage
  • Renal problems/gout
  • Scoliosis: 3 times more common in these patients
  • Gallstones: Due to increased RBC turnover

Prognosis

References


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Diagnosis

Diagnosis

Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings| | Electrocardiogram | Chest X Ray | Echocardiography or Ultrasound | CT | MRI | Other Imaging Findings | Other Imaging Findings| Other Diagnostic Studies

Treatment

Treatment

Medical Therapy | Interventions| Surgery | Primary Prevention | Secondary Prevention| Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case Studies

Case#1


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