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Pulmonary atresia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  : Muhammad Waqas, M.D.[2]

Synonyms and keywords:

Overview

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

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Xyz from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Interventions

Surgery

Primary Prevention

Secondary Prevention

References


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Historical Perspective

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

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

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

Overview

There is no established system for the classification of [disease name].

OR

[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].

OR

[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].

OR

Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.

OR

If the staging system involves specific and characteristic findings and features: According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].

OR

The staging of [malignancy name] is based on the [staging system].

OR

There is no established system for the staging of [malignancy name].

Classification

There is no established system for the classification of [disease name].

OR

[Disease name] may be classified according to [classification method] into [number] subtypes/groups:

  • [Group1]
  • [Group2]
  • [Group3]
  • [Group4]

OR

[Disease name] may be classified into [large number > 6] subtypes based on:

  • [Classification method 1]
  • [Classification method 2]
  • [Classification method 3]

[Disease name] may be classified into several subtypes based on:

  • [Classification method 1]
  • [Classification method 2]
  • [Classification method 3]

OR

Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.

OR

If the staging system involves specific and characteristic findings and features:

According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].

OR

The staging of [malignancy name] is based on the [staging system].

OR

There is no established system for the staging of [malignancy name].

References

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Pathophysiology

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

Overview

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR


[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Pathophysiology

Physiology

The normal physiology of [name of process] can be understood as follows:

Pathogenesis

  • The exact pathogenesis of [disease name] is not completely understood.

OR

  • It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
  • [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
  • Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
  • [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
  • The progression to [disease name] usually involves the [molecular pathway].
  • The pathophysiology of [disease/malignancy] depends on the histological subtype.

Genetics

[Disease name] is transmitted in [mode of genetic transmission] pattern.

OR

Genes involved in the pathogenesis of [disease name] include:

  • [Gene1]
  • [Gene2]
  • [Gene3]

OR

The development of [disease name] is the result of multiple genetic mutations such as:

  • [Mutation 1]
  • [Mutation 2]
  • [Mutation 3]

Associated Conditions

Conditions associated with [disease name] include:

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

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

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Causes

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

Overview

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Causes

  • ymptom/manifestation] include [cause1], [cause2], and [cause3].
  • [Cause] is a life-threatening cause of [disease].

Common Causes

Common causes of [disease name] may include:

  • [Cause1]
  • [Cause2]
  • [Cause3]


OR


  • [Disease name] is caused by an infection with [pathogen name].
  • [Pathogen name] is caused by [pathogen name].

Less Common Causes

Less common causes of [disease name] include:

  • [Cause1]
  • [Cause2]
  • [CauseCauses by OrganList the causes of the disease in alphabetical order:
  • Cause 1
  • Cause 2
  • Cause 3
  • Cause 4
  • Cause 5
  • Cause 6
  • Cause 7
  • Cause 8
  • Cause 9
  • Cause 10

References

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Differentiating Xyz from other Diseases

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

Overview

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Differentiating [Disease name] from other Diseases

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3].

OR

As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].

Differentiating [disease name] from other diseases on the basis of [symptom 1], [symptom 2], and [symptom 3]

On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6].

Diseases Clinical manifestations Para-clinical findings Gold standard Additional findings
Symptoms Physical examination
Lab Findings Imaging Histopathology
Symptom 1 Symptom 2 Symptom 3 Physical exam 1 Physical exam 2 Physical exam 3 Lab 1 Lab 2 Lab 3 Imaging 1 Imaging 2 Imaging 3
Differential Diagnosis 1
Differential Diagnosis 2
Differential Diagnosis 3
Diseases Symptom 1 Symptom 2 Symptom 3 Physical exam 1 Physical exam 2 Physical exam 3 Lab 1 Lab 2 Lab 3 Imaging 1 Imaging 2 Imaging 3 Histopathology Gold standard Additional findings
Differential Diagnosis 4
Differential Diagnosis 5
Differential Diagnosis 6

References

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Epidemiology and Demographics

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

Overview

Epidemiology and Demographics

Incidence

  • The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
  • In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.

Prevalence

  • The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
  • In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
  • The prevalence of [disease/malignancy] is estimated to be [number] cases annually.

Case-fatality rate/Mortality rate

  • In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate/mortality rate of [number range]%.
  • The case-fatality rate/mortality rate of [disease name] is approximately [number range].

Age

  • Patients of all age groups may develop [disease name].
  • The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
  • [Disease name] commonly affects individuals younger than/older than [number of years] years of age.
  • [Chronic disease name] is usually first diagnosed among [age group].
  • [Acute disease name] commonly affects [age group].

Race

  • There is no racial predilection to [disease name].
  • [Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].

Gender

  • [Disease name] affects men and women equally.
  • [Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.

Region

  • The majority of [disease name] cases are reported in [geographical region].
  • [Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].

Developed Countries

Developing Countries

References

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Risk Factors

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

Overview

There are no established risk factors for [disease name].

OR

The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.

Risk Factors

There are no established risk factors for [disease name].

OR

The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Common Risk Factors

  • Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
  • Common risk factors in the development of [disease name] include:
    • [Risk factor 1]
    • [Risk factor 2]
    • [Risk factor 3]

Less Common Risk Factors

  • Less common risk factors in the development of [disease name] include:
    • [Risk factor 1]
    • [Risk factor 2]
    • [Risk factor 3]

References

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Screening

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

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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Diagnosis

Diagnosis

Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI 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

Epidemiology and demographics
  • While there is no difference in the incidence of Pulmonary atresia in male or female, it is found that pulmonary atresia with VSD ( PA-VSD ) is slightly more prevalent in males than in females. [1]

1) The prevalence of Pulmonary Atresia with VSD is estimated to be around 0.07 per 1000 live breath. and 2.5-3.4 % among all congenital heart diseases.[3]

2) The overall incidence of PA-IVSD is under estimated as most of the fetus are spontaneously aborted due to the underlying other congenital malformations or are diagnosed on routine antenatal ultrasound and results in elective termination.

– The reported incidence is 6-8 per 100,000 live births and 1-3% of all congenital heart disease. [4][5]

Classification

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [2], Cafer Zorkun, M.D., Ph.D. [3]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [4]

Overview

Pulmonary atresia can be classified into two forms: with intact ventricular septum and with ventricular septal defect. Additionally, pulmonary atresia with intact ventricular septum can be further classified into type I or type II depending largely on the complexity of the cardiac lesion as characterized by one of two patterns of pathophysiology.

Classification

There are two forms of pulmonary atresia.[1]

References

  1. 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.


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Natural history, Complications, and Prognosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [2], Cafer Zorkun, M.D., Ph.D. [3]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [4]

Prognosis

  • The outcome varies for every child. Studies has shown that the survival rate mainly is dependant on the degree of the right ventricular outflow tract obstruction and extent of the right ventricular dilatation/hypertrophy.[1]
  • Right Ventricular hypertrophy can be a key predictor of fetal mortality and neonatal outcome. The retrospective studies have shown right ventricular hypertrophy in 50 % of fetuses who died during the neonatal period compared to those who survived it.[1]
  • If the condition is left uncorrected it is fatal, but the prognosis has greatly improved over the years for babies with pulmonary atresia due to advancement in medicine. Most cases of pulmonary atresia can be helped with surgery. If the patient’s right ventricle is exceptionally small, many surgeries will be needed in order to help stimulate normal circulation of blood to the heart.
  • If uncorrected, babies with this type of congenital heart disease will only survive for the first few days of life while the fetal shunts between left and right circulations remain patent. It is recommended to screen the fetuses at the second trimester via Echocardiographic ultrasound and those with positive findings should only be delivered at the tertiary care setup to minimize the poor outcome.[2]
  • The long term prognosis of corrected defect is excellent and the children will go on to lead relatively normal, uncomplicated healthy. Children with pulmonary atresia will need to be seen regularly throughout their lifetime by a cardiologist to be sure that their heart is functioning properly. Due to their increased risk of endocarditis, children diagnosed with pulmonary atresia should have amoxicillin before any type of dental work or other types of surgeries to help prevent this infection from occurring.[3]

[4]

References

  1. 1.0 1.1 Todros T, Paladini D, Chiappa E, Russo MG, Gaglioti P, Pacileo G; et al. (2003). “Pulmonary stenosis and atresia with intact ventricular septum during prenatal life”. Ultrasound Obstet Gynecol. 21 (3): 228–33. doi:10.1002/uog.63. PMID 12666215.
  2. Shinebourne EA, Rigby ML, Carvalho JS (2008). “Pulmonary atresia with intact ventricular septum: from fetus to adult: congenital heart disease”. Heart. 94 (10): 1350–7. doi:10.1136/hrt.2006.108936. PMID 18801793.
  3. Day MD, Gauvreau K, Shulman S, Newburger JW (2009). “Characteristics of children hospitalized with infective endocarditis”. Circulation. 119 (6): 865–70. doi:10.1161/CIRCULATIONAHA.108.798751. PMID 19188508.
  4. Garrocho-Rangel A, Echavarría-García AC, Rosales-Bérber MA, Flores-Velázquez J, Pozos-Guillén A (2017). “Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review”. Med Oral Patol Oral Cir Bucal. 22 (4): e458–e466. doi:10.4317/medoral.21864. PMC 5549532. PMID 28624838.


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Causes

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

Overview

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Causes

Life-threatening Causes

  • Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of disease name, however complications resulting from untreated disease name is common.
  • Life-threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
  • [Cause] is a life-threatening cause of [disease].

Common Causes

Common causes of [disease name] may include:

  • [Cause1]
  • [Cause2]
  • [Cause3]


OR


  • [Disease name] is caused by an infection with [pathogen name].
  • [Pathogen name] is caused by [pathogen name].

Less Common Causes

Less common causes of [disease name] include:

  • [Cause1]
  • [Cause2]
  • [Cause3]

Genetic Causes

  • [Disease name] is caused by a mutation in the [gene name] gene.

Causes by Organ System

Cardiovascular No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect No underlying causes
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic No underlying causes
Hematologic No underlying causes
Iatrogenic No underlying causes
Infectious Disease No underlying causes
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary No underlying causes
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes


Causes in Alphabetical Order

List the causes of the disease in alphabetical order:

  • Cause 1
  • Cause 2
  • Cause 3
  • Cause 4
  • Cause 5
  • Cause 6
  • Cause 7
  • Cause 8
  • Cause 9
  • Cause 10

References

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Diagnosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Tests | Electrocardiogram | Chest X Ray | MRI | CT | Echocardiography | Other Imaging Findings | Other Diagnostic Studies

Treatment

Treatment

References

References

External links


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