Pentalogy of Cantrell: Difference between revisions
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{{Infobox medical condition | |||
| name = Pentalogy of Cantrell | |||
| image = [[File:MRI_of_a_fetus_with_pentalogy_of_Cantrell.jpg|250px]] | |||
| caption = MRI of a fetus with Pentalogy of Cantrell | |||
| synonyms = Thoraco-abdominal syndrome | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Ectopia cordis]], [[Omphalocele]], [[Diaphragmatic hernia]], [[Pericardial defect]], [[Sternal cleft]] | |||
| complications = [[Cardiac anomalies]], [[Respiratory distress]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]], [[Environmental factors]] | |||
| diagnosis = [[Prenatal ultrasound]], [[MRI]] | |||
| differential = [[Beckwith-Wiedemann syndrome]], [[Amniotic band syndrome]] | |||
| treatment = [[Surgical repair]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = High mortality rate in severe cases | |||
}} | |||
'''Pentalogy of Cantrell''' is a rare congenital disorder, characterized by a combination of five defects involving the diaphragm, abdominal wall, pericardium, heart, and lower sternum. The condition was first described by American radiologist James Cantrell in 1958. | '''Pentalogy of Cantrell''' is a rare congenital disorder, characterized by a combination of five defects involving the diaphragm, abdominal wall, pericardium, heart, and lower sternum. The condition was first described by American radiologist James Cantrell in 1958. | ||
==Etiology== | ==Etiology== | ||
The exact cause of Pentalogy of Cantrell is unknown. However, it is believed to be due to a disruption in the development of the midline embryonic structures during the early stages of pregnancy. This disruption could be due to genetic or environmental factors, or a combination of both. | The exact cause of Pentalogy of Cantrell is unknown. However, it is believed to be due to a disruption in the development of the midline embryonic structures during the early stages of pregnancy. This disruption could be due to genetic or environmental factors, or a combination of both. | ||
==Clinical Features== | ==Clinical Features== | ||
The five defects associated with Pentalogy of Cantrell include: | The five defects associated with Pentalogy of Cantrell include: | ||
# Defect in the diaphragm, the muscle that separates the chest and abdominal cavities. | # Defect in the diaphragm, the muscle that separates the chest and abdominal cavities. | ||
# Defect in the lower sternum, the bone that forms the middle of the front of the rib cage and helps protect the heart and lungs. | # Defect in the lower sternum, the bone that forms the middle of the front of the rib cage and helps protect the heart and lungs. | ||
| Line 12: | Line 29: | ||
# Defect in the pericardium, the sac that surrounds the heart. | # Defect in the pericardium, the sac that surrounds the heart. | ||
# Heart malformations, which can vary in severity and type. | # Heart malformations, which can vary in severity and type. | ||
The severity of these defects can vary widely among individuals, and not all five defects may be present in every case. | The severity of these defects can vary widely among individuals, and not all five defects may be present in every case. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Pentalogy of Cantrell can be challenging due to the rarity of the condition and the variability in the presentation of symptoms. It is often diagnosed through a combination of physical examination, imaging studies such as ultrasound or MRI, and genetic testing. | Diagnosis of Pentalogy of Cantrell can be challenging due to the rarity of the condition and the variability in the presentation of symptoms. It is often diagnosed through a combination of physical examination, imaging studies such as ultrasound or MRI, and genetic testing. | ||
==Treatment== | ==Treatment== | ||
Treatment for Pentalogy of Cantrell is typically surgical and depends on the severity and type of defects present. The goal of treatment is to correct the defects and improve the function of the affected organs. | Treatment for Pentalogy of Cantrell is typically surgical and depends on the severity and type of defects present. The goal of treatment is to correct the defects and improve the function of the affected organs. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Pentalogy of Cantrell varies depending on the severity of the defects and the success of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead normal lives. | The prognosis for individuals with Pentalogy of Cantrell varies depending on the severity of the defects and the success of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead normal lives. | ||
==See Also== | ==See Also== | ||
* [[Congenital disorders]] | * [[Congenital disorders]] | ||
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* [[Heart defects]] | * [[Heart defects]] | ||
* [[Abdominal wall defects]] | * [[Abdominal wall defects]] | ||
[[Category:Congenital disorders]] | [[Category:Congenital disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Cardiac defects]] | [[Category:Cardiac defects]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:08, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Pentalogy of Cantrell | |
|---|---|
| |
| Synonyms | Thoraco-abdominal syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Ectopia cordis, Omphalocele, Diaphragmatic hernia, Pericardial defect, Sternal cleft |
| Complications | Cardiac anomalies, Respiratory distress |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history, Environmental factors |
| Diagnosis | Prenatal ultrasound, MRI |
| Differential diagnosis | Beckwith-Wiedemann syndrome, Amniotic band syndrome |
| Prevention | N/A |
| Treatment | Surgical repair |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | High mortality rate in severe cases |
Pentalogy of Cantrell is a rare congenital disorder, characterized by a combination of five defects involving the diaphragm, abdominal wall, pericardium, heart, and lower sternum. The condition was first described by American radiologist James Cantrell in 1958.
Etiology[edit]
The exact cause of Pentalogy of Cantrell is unknown. However, it is believed to be due to a disruption in the development of the midline embryonic structures during the early stages of pregnancy. This disruption could be due to genetic or environmental factors, or a combination of both.
Clinical Features[edit]
The five defects associated with Pentalogy of Cantrell include:
- Defect in the diaphragm, the muscle that separates the chest and abdominal cavities.
- Defect in the lower sternum, the bone that forms the middle of the front of the rib cage and helps protect the heart and lungs.
- Defect in the anterior abdominal wall, which protects the organs within the abdomen.
- Defect in the pericardium, the sac that surrounds the heart.
- Heart malformations, which can vary in severity and type.
The severity of these defects can vary widely among individuals, and not all five defects may be present in every case.
Diagnosis[edit]
Diagnosis of Pentalogy of Cantrell can be challenging due to the rarity of the condition and the variability in the presentation of symptoms. It is often diagnosed through a combination of physical examination, imaging studies such as ultrasound or MRI, and genetic testing.
Treatment[edit]
Treatment for Pentalogy of Cantrell is typically surgical and depends on the severity and type of defects present. The goal of treatment is to correct the defects and improve the function of the affected organs.
Prognosis[edit]
The prognosis for individuals with Pentalogy of Cantrell varies depending on the severity of the defects and the success of treatment. With early diagnosis and appropriate treatment, many individuals with this condition can lead normal lives.
