{"@context":"https://schema.org","@graph":[{"@type":"MedicalScholarlyArticle","@id":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3#article","headline":"Familial Patterns of Thoracic Aortic Aneurysms","name":"Familial Patterns of Thoracic Aortic Aneurysms","url":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3","inLanguage":"en","datePublished":"Thu, 01 Apr 1999 00:00:00 GMT","dateCreated":"Fri, 10 Oct 2025 00:00:00 GMT","abstract":"HYPOTHESIS: To provide evidence that genetic factors contribute to the development of thoracic aortic aneurysms (TAA) by demonstrating familial patterns of the disease. DESIGN: Retrospective review. SETTING: University hospital. PATIENTS AND METHODS: We sought to identify familial patterns of TAA from a database of 598 patients evaluated or treated for TAA at the Yale Center for Thoracic Aortic Disease, New Haven, Conn, from January 1985 to August 1998. Of the 598 patients, 45 patients had a diagnosis of Marfan syndrome and 553 patients had no known history of any collagen vascular disorder. Of the 553 patients in the latter category, 398 patients had confirmed TAA, 66 had TAA with concomitant aortic dissections, and 89 had aortic dissections. From the group of 464 patients with TAA with or without concomitant aortic dissections, 2 interviewers attempted to contact 150 randomly selected patients for telephone screening to determine the presence of familial patterns of aortic disease. Fifteen of these patients were lost to follow-up. Complete medical and family histories of the remaining 135 patients (85 men, 50 women) were reviewed. Of the 135 individuals screened, 26 (18 men, 8 women) (19.3%) were found to belong to multiplex pedigrees. These 26 patients with familial nonsyndromic TAA were compared with the remaining 109 patients with sporadic TAA and the 45 patients with Marfan syndrome-associated TAA. MAIN OUTCOME MEASURES: Groups were examined for statistical differences in age and aortic size at the time of diagnosis, growth rates of TAA, and rates of concomitant diseases. Nonsyndromic family pedigrees were analyzed and potential modes of inheritance were determined. RESULTS: The mean age at presentation for patients with familial nonsyndromic TAA (56.8 years) was significantly younger than the mean age of presentation in sporadic cases (64.3 years, P< or =.03), and significantly older than that of patients with Marfan syndrome (24.8 years, P< or =.001). Patients with a family history of aortic aneurysms had faster growth rates (0.22 cm/y) compared with patients with sporadic TAA (0.03 cm/y) (P< or =.001) and patients with Marfan syndrome (0.10 cm/y) (P< or =.04). Familial nonsyndromic TAA in patients with a concomitant aortic dissection had a growth rate of 0.33 cm/y, which was greater than that of patients with sporadic TAA (0.10 cm/y) and patients with Marfan syndrome (0.08 cm/y) with associated aortic dissection. This growth of 0.33 cm/y was significantly faster than the overall growth rate estimate of aneurysms in patients with aortic dissection (0.14 cm/y) (P< or =.05). Ten pedigrees (38.5%) showed direct father to son transmission, consistent with an autosomal dominant mode of inheritance. Six family pedigrees (23.1%) suggested an autosomal dominant or X-linked mode of inheritance. Seven pedigrees (26.9%) suggested a recessive mode of inheritance; 2 an autosomal recessive mode, and 5 an X-linked recessive or autosomal recessive mode. The remaining 3 pedigrees displayed more complex modes of inheritance. CONCLUSIONS: This study supports the role of genetic factors influencing familial aggregation of TAA. Thoracic aortic aneurysms in association with multiplex pedigrees represent a new risk factor for aneurysm growth. Pedigree analysis suggests genetic heterogeneity. The primary mode of inheritance seems to be autosomal dominant, but X-linked dominant and recessive modes are also evident.","description":"HYPOTHESIS: To provide evidence that genetic factors contribute to the development of thoracic aortic aneurysms (TAA) by demonstrating familial patterns of the disease. DESIGN: Retrospective review. SETTING: University hospital. PATIENTS AND METHODS: We sought to identify familial patterns of TAA from a database of 598 patients evaluated or treated for TAA at the Yale Center for Thoracic Aortic Disease, New Haven, Conn, from January 1985 to August 1998. Of the 598 patients, 45 patients had a diagnosis of Marfan syndrome and 553 patients had no known history of any collagen vascular disorder. Of the 553 patients in the latter category, 398 patients had confirmed TAA, 66 had TAA with concomitant aortic dissections, and 89 had aortic dissections. From the group of 464 patients with TAA with or without concomitant aortic dissections, 2 interviewers attempted to contact 150 randomly selected patients for telephone screening to determine the presence of familial patterns of aortic disease. Fifteen of these patients were lost to follow-up. Complete medical and family histories of the remaining 135 patients (85 men, 50 women) were reviewed. Of the 135 individuals screened, 26 (18 men, 8 women) (19.3%) were found to belong to multiplex pedigrees. These 26 patients with familial nonsyndromic TAA were compared with the remaining 109 patients with sporadic TAA and the 45 patients with Marfan syndrome-associated TAA. MAIN OUTCOME MEASURES: Groups were examined for statistical differences in age and aortic size at the time of diagnosis, growth rates of TAA, and rates of concomitant diseases. Nonsyndromic family pedigrees were analyzed and potential modes of inheritance were determined. RESULTS: The mean age at presentation for patients with familial nonsyndromic TAA (56.8 years) was significantly younger than the mean age of presentation in sporadic cases (64.3 years, P< or =.03), and significantly older than that of patients with Marfan syndrome (24.8 years, P< or =.001). Patients with a family history of aortic aneurysms had faster growth rates (0.22 cm/y) compared with patients with sporadic TAA (0.03 cm/y) (P< or =.001) and patients with Marfan syndrome (0.10 cm/y) (P< or =.04). Familial nonsyndromic TAA in patients with a concomitant aortic dissection had a growth rate of 0.33 cm/y, which was greater than that of patients with sporadic TAA (0.10 cm/y) and patients with Marfan syndrome (0.08 cm/y) with associated aortic dissection. This growth of 0.33 cm/y was significantly faster than the overall growth rate estimate of aneurysms in patients with aortic dissection (0.14 cm/y) (P< or =.05). Ten pedigrees (38.5%) showed direct father to son transmission, consistent with an autosomal dominant mode of inheritance. Six family pedigrees (23.1%) suggested an autosomal dominant or X-linked mode of inheritance. Seven pedigrees (26.9%) suggested a recessive mode of inheritance; 2 an autosomal recessive mode, and 5 an X-linked recessive or autosomal recessive mode. The remaining 3 pedigrees displayed more complex modes of inheritance. CONCLUSIONS: This study supports the role of genetic factors influencing familial aggregation of TAA. Thoracic aortic aneurysms in association with multiplex pedigrees represent a new risk factor for aneurysm growth. Pedigree analysis suggests genetic heterogeneity. The primary mode of inheritance seems to be autosomal dominant, but X-linked dominant and recessive modes are also evident.","author":[{"@type":"Person","name":"Michael A. Coady","url":"https://synapsesocial.com/authors/A5111528182"}],"isPartOf":{"@type":"Periodical","name":"Archives of Surgery","url":"https://synapsesocial.com/journals/6896392638e66137c435325e"},"publisher":{"@type":"Periodical","name":"Archives of Surgery","url":"https://synapsesocial.com/journals/6896392638e66137c435325e"},"sourceOrganization":[{"@type":"Organization","name":"Yale University","url":"https://synapsesocial.com/institutions/68924f578807423d81a6dc94"}],"isBasedOn":"https://doi.org/10.1001/archsurg.134.4.361","identifier":[{"@type":"PropertyValue","propertyID":"DOI","value":"10.1001/archsurg.134.4.361"},{"@type":"PropertyValue","propertyID":"OpenAlex","value":"https://openalex.org/W2006036905"}],"sameAs":["https://doi.org/10.1001/archsurg.134.4.361","https://openalex.org/https://openalex.org/W2006036905"],"citationCount":370,"keywords":"Adolescent, Elderly"},{"@type":"MedicalWebPage","@id":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3#webpage","url":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3","name":"Familial Patterns of Thoracic Aortic Aneurysms","about":{"@id":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3#article"},"mainContentOfPage":{"@id":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3#article"},"medicalAudience":[{"@type":"MedicalAudience","audienceType":"Clinician"},{"@type":"MedicalAudience","audienceType":"Researcher"}],"inLanguage":"en","isPartOf":{"@type":"WebSite","@id":"https://synapsesocial.com#website","url":"https://synapsesocial.com","name":"Synapse"},"lastReviewed":"Fri, 10 Oct 2025 00:00:00 GMT"},{"@type":"BreadcrumbList","@id":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3#breadcrumbs","itemListElement":[{"@type":"ListItem","position":1,"name":"Synapse","item":"https://synapsesocial.com"},{"@type":"ListItem","position":2,"name":"Explore","item":"https://synapsesocial.com/explore"},{"@type":"ListItem","position":3,"name":"Familial Patterns of Thoracic Aortic Aneurysms","item":"https://synapsesocial.com/papers/6a0aaf2e48609dcc0aac94d3"}]}]}

Familial Patterns of Thoracic Aortic Aneurysms

Discussion

Member takes

Implication

Key Points

Cite This Study

Familial Patterns of Thoracic Aortic Aneurysms

Discussion

Member takes

Implication

Key Points

Cite This Study