Pulmonary arterial aneurysm with CATCH 22 syndrome--a case report.
O Kinoshita1, T Mizoue, A Kusama
1First Department of Internal Medicine, Shinshu University School of Medicine, and Cardiovascular Center, Marunouchi Hospital, Matsumoto, Japan. kinos@cocoa.ocn.ne.jp
Angiology
|November 22, 2001
Summary
This case highlights an adult with CATCH 22 syndrome and a pulmonary arterial aneurysm, a rare presentation. Early differentiation from other thoracic lesions is crucial for timely diagnosis and management.
Area of Science:
- Genetics
- Cardiology
- Radiology
Background:
- CATCH 22 syndrome, a genetic disorder from 22q11 chromosome deletion, typically presents with congenital heart defects.
- This syndrome often leads to early mortality, making adult cases exceptionally rare.
Observation:
- An adult patient with CATCH 22 syndrome presented with a pulmonary arterial aneurysm.
- Chest radiography revealed a large lesion requiring differentiation from lung cancer, mediastinal tumors, or aortic aneurysms.
Findings:
- The case demonstrates an unusual adult manifestation of CATCH 22 syndrome.
- Pulmonary arterial aneurysm as a presenting feature in an adult with 22q11 deletion syndrome is noted.
Implications:
- This presentation expands the known clinical spectrum of CATCH 22 syndrome into adulthood.
- Highlights the importance of considering genetic syndromes in adult patients with complex thoracic findings.
Related Concept Videos
01:30Pulmonary Hypertension: Classification and Pathogenesis
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
There are various classifications for PH, each relating to different underlying causes and also...
01:30Aneurysm I: Introduction
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
01:29Pulmonary Embolism II: Diagnostic Studies and Interprofessional Care
Diagnosing Pulmonary EmbolismDiagnosing pulmonary embolism (PE) involves clinical assessment and advanced imaging tests. The preferred diagnostic tool is the spiral (helical) CT scan or CT angiography (CTA), which uses intravenous contrast media to visualize the pulmonary vasculature and identify emboli.A ventilation-perfusion (V/Q) scan is an alternative for patients unable to receive contrast media. This scan includes both perfusion and ventilation scanning. Perfusion scanning involves...
01:08Pneumothorax II: Pathophysiology
Pneumothorax means the presence of air in the pleural space — the thin potential gap between the visceral and parietal pleura. This condition disrupts the normal pressure balance that keeps the lungs inflated, leading to partial or complete collapse of the affected lung.Normal physiologyUnder normal conditions, the pleural space maintains a slightly negative intrapleural pressure, which keeps the lungs expanded against the chest wall. This negative pressure creates a delicate balance between...
01:18Pulmonary Edema II: Pathophysiology
Pulmonary edema is the accumulation of fluid in the interstitial and alveolar spaces of the lungs, impairing gas exchange and oxygen delivery. It may be cardiogenic or noncardiogenic, but both reduce oxygenation and lung compliance.Cardiogenic Pulmonary EdemaCardiogenic edema results from increased hydrostatic pressure in pulmonary capillaries, usually due to left ventricular dysfunction from myocardial infarction, heart failure, or valvular disease. Ineffective cardiac pumping causes blood to...