Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding familial thoracic aortic aneurysm is limited due to its rarity and the absence of a clearly defined genetic basis. As this condition affects a relatively small population, comprehensive clinical studies have not been extensively conducted. Additionally, the variability in clinical presentation makes it challenging to establish standardized guidelines. Despite these limitations, ongoing research aims to deepen our understanding and improve management strategies.
The clinical picture of familial thoracic aortic aneurysm includes several cardiovascular manifestations. The most common features (80-99% prevalence) are mucoid extracellular matrix accumulation and aortic root aneurysm. Other significant symptoms include cardiomegaly, aortic regurgitation, and coronary artery atherosclerosis, which occur in 30-79% of cases. Patients may also experience exertional dyspnea and paroxysmal dyspnea, indicating compromised cardiac function. These symptoms underscore the need for careful cardiovascular assessment and management.
To navigate familial thoracic aortic aneurysm, consider consulting a cardiologist with expertise in genetic cardiovascular disorders. They can provide tailored management plans and monitor your condition effectively. Additionally, you may benefit from genetic counseling to discuss potential hereditary implications. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer new insights into your condition.
Currently, there are two active clinical trials investigating familial thoracic aortic aneurysm. These trials may provide insights into potential treatment options and management strategies. For further details on these studies, you can visit ClinicalTrials.gov and search for 'aortic aneurysm, familial thoracic 1'. Participation in clinical trials can be an important avenue for accessing cutting-edge therapies and contributing to the broader understanding of this condition.
Actionable guidance for navigating care for aortic aneurysm, familial thoracic 1
To navigate familial thoracic aortic aneurysm, consider consulting a cardiologist with expertise in genetic cardiovascular disorders. They can provide tailored management plans and monitor your condition effectively. Additionally, you may benefit from genetic counseling to discuss potential hereditary implications. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer new insights into your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding familial thoracic aortic aneurysm is limited due to its rarity and the absence of a clearly defined genetic basis. As this condition affects a relatively small population, comprehensive clinical studies have not been extensively conducted. Additionally, the variability in clinical presentation makes it challenging to establish standardized guidelines. Despite these limitations, ongoing research aims to deepen our understanding and improve management strategies.
The clinical picture of familial thoracic aortic aneurysm includes several cardiovascular manifestations. The most common features (80-99% prevalence) are mucoid extracellular matrix accumulation and aortic root aneurysm. Other significant symptoms include cardiomegaly, aortic regurgitation, and coronary artery atherosclerosis, which occur in 30-79% of cases. Patients may also experience exertional dyspnea and paroxysmal dyspnea, indicating compromised cardiac function. These symptoms underscore the need for careful cardiovascular assessment and management.
To navigate familial thoracic aortic aneurysm, consider consulting a cardiologist with expertise in genetic cardiovascular disorders. They can provide tailored management plans and monitor your condition effectively. Additionally, you may benefit from genetic counseling to discuss potential hereditary implications. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer new insights into your condition.
Currently, there are two active clinical trials investigating familial thoracic aortic aneurysm. These trials may provide insights into potential treatment options and management strategies. For further details on these studies, you can visit ClinicalTrials.gov and search for 'aortic aneurysm, familial thoracic 1'. Participation in clinical trials can be an important avenue for accessing cutting-edge therapies and contributing to the broader understanding of this condition.
Actionable guidance for navigating care for aortic aneurysm, familial thoracic 1
To navigate familial thoracic aortic aneurysm, consider consulting a cardiologist with expertise in genetic cardiovascular disorders. They can provide tailored management plans and monitor your condition effectively. Additionally, you may benefit from genetic counseling to discuss potential hereditary implications. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer new insights into your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding familial thoracic aortic aneurysm is limited due to its rarity and the absence of a clearly defined genetic basis. As this condition affects a relatively small population, comprehensive clinical studies have not been extensively conducted. Additionally, the variability in clinical presentation makes it challenging to establish standardized guidelines. Despite these limitations, ongoing research aims to deepen our understanding and improve management strategies.
The clinical picture of familial thoracic aortic aneurysm includes several cardiovascular manifestations. The most common features (80-99% prevalence) are mucoid extracellular matrix accumulation and aortic root aneurysm. Other significant symptoms include cardiomegaly, aortic regurgitation, and coronary artery atherosclerosis, which occur in 30-79% of cases. Patients may also experience exertional dyspnea and paroxysmal dyspnea, indicating compromised cardiac function. These symptoms underscore the need for careful cardiovascular assessment and management.
To navigate familial thoracic aortic aneurysm, consider consulting a cardiologist with expertise in genetic cardiovascular disorders. They can provide tailored management plans and monitor your condition effectively. Additionally, you may benefit from genetic counseling to discuss potential hereditary implications. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer new insights into your condition.
Currently, there are two active clinical trials investigating familial thoracic aortic aneurysm. These trials may provide insights into potential treatment options and management strategies. For further details on these studies, you can visit ClinicalTrials.gov and search for 'aortic aneurysm, familial thoracic 1'. Participation in clinical trials can be an important avenue for accessing cutting-edge therapies and contributing to the broader understanding of this condition.
Actionable guidance for navigating care for aortic aneurysm, familial thoracic 1
To navigate familial thoracic aortic aneurysm, consider consulting a cardiologist with expertise in genetic cardiovascular disorders. They can provide tailored management plans and monitor your condition effectively. Additionally, you may benefit from genetic counseling to discuss potential hereditary implications. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer new insights into your condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.