Familial dissecting aortic aneurysm. A report of three cases within two generations.

Hanley, William; Jones, Nick

doi:10.1136/hrt.29.6.852

Cited by 35 publications

(7 citation statements)

References 12 publications

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“…In 1967, Hanley and Jones [19] reported on familial nonsyndromic TAAD, noting that the patients, two sisters and a brother, did not fit the diagnostic criteria of Marfan syndrome. This was followed by numerous additional reports on single families or small collections of families with nonsyndromic TAAD [20•].…”

Section: Mutations Causing Thoracic Aortic Aneurysms and Dissectionsmentioning

confidence: 98%

Novel Genetic Mechanisms for Aortic Aneurysms

Tromp

Kuivaniemi

Hinterseher

et al. 2010

Curr Atheroscler Rep

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Aortic aneurysms occur in the thoracic and abdominal sections of the aorta and are a deadly late-age-at-onset disease with complex pathobiology. Currently, the number of published genome-wide analyses including microarray-based expression profiling, DNA linkage studies, and genetic association studies is still limited and it is difficult to make generalizations about the disease pathogenesis or genetic risk factors contributing to aortic aneurysms, but it appears that thoracic aortic aneurysms differ in many ways from abdominal aortic aneurysms. Characterization of diseases at the molecular level is likely to lead to more accurate diagnoses and the use of "genomic nosology" of disease. The biggest future challenge will be to translate the genomic information to the clinic and improve our understanding of the disease processes, help us to develop better diagnostic tools, and lead to the design of new ways to manage aortic aneurysms in the era of personalized medicine.

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Section: Mutations Causing Thoracic Aortic Aneurysms and Dissectionsmentioning

confidence: 98%

Novel Genetic Mechanisms for Aortic Aneurysms

Tromp

Kuivaniemi

Hinterseher

et al. 2010

Curr Atheroscler Rep

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“…Our report may provide further evidence that other genetic factors predispose to ascending aortic dilatation and dissection [8]. Autosomal dominant inheritance, already suggested by others, is the most likely transmission pattern in our family [6, 7, 8]. …”

Section: Commentmentioning

confidence: 79%

“…Biochemical collagen analysis in both sisters was normal and did thus not permit to conclude to a specific collagen disorder. This family may relate to the so-called idiopathic familial cystic medial necrosis or Erdheim’s disease [6]whose underlying biochemical abnormality still remains to be discovered. Familial occurrence in the absence of established connective tissue disorders is rare but several families with young patients have been described [4, 5, 6, 7].…”

Section: Commentmentioning

confidence: 99%

“…This family may relate to the so-called idiopathic familial cystic medial necrosis or Erdheim’s disease [6]whose underlying biochemical abnormality still remains to be discovered. Familial occurrence in the absence of established connective tissue disorders is rare but several families with young patients have been described [4, 5, 6, 7]. Our report may provide further evidence that other genetic factors predispose to ascending aortic dilatation and dissection [8].…”

Section: Commentmentioning

confidence: 99%

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Early-Onset Familial Dilatation of the Ascending Aorta

Beghetti

Steinmann²,

Didier³

et al. 1999

Cardiology

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“…14 Similar studies have also shown evidence for familial aortic pathology in the absence of the Marfan syndrome. [15][16][17] Despite the subtle genetic differences between connective-tissue disorders and familial TAA/dissection syndrome, the common denominator among many of these genetic conditions is breakdown of the elastic fiber milieu, involving chromosomal loci 5q13-14 and 11q23.2-q24. 18,19 Annuloaortic ectasia refers to the process in which elastolysis occurs in the aortic annulus.…”

Section: Aortic Dissectionmentioning

confidence: 99%

Acute Aortic Syndromes and Thoracic Aortic Aneurysm

Ramanath

Sundt

et al. 2009

Mayo Clinic Proceedings

196

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Acute and chronic aortic diseases have been diagnosed and studied by physicians for centuries. Both the diagnosis and treatment of aortic diseases have been steadily improving over time, largely because of increased physician awareness and improvements in diagnostic modalities. This comprehensive review discusses the pathophysiology and risk factors, classification schemes, epidemiology, clinical presentations, diagnostic modalities, management options, and outcomes of various aortic conditions, including acute aortic dissection (and its variants intramural hematoma and penetrating aortic ulcers) and thoracic aortic aneurysms. Literature searches of the PubMed database were conducted using the following keywords: aortic dissection, intramural hematoma, aortic ulcer, and thoracic aortic aneurysm. Retrospective and prospective studies performed within the past 20 years were included in the review; however, most data are from the past 15 years. and studied by physicians for centuries. Descriptions of such pathologic conditions of the aorta as aneurysm and dissection date back as early as the 2nd century during the time of Galen, whose discoveries were largely made through studies of apes. More "recent" reports were described by Vesalius in 1557, followed by Nichols in 1732, who detailed the process of aortic dissection. In 1761, Morgagni reported detailed pathologic features of a patient with a ruptured aorta. 1 However, our true understanding of aortic pathology began with the dissertation by Shennan 2 in 1934, which included a description of penetrating atheromatous plaques of the thoracic aorta. His report was followed by the first successful management of aortic dissection by DeBakey in 1955. 1 Since then, our knowledge of the pathologic conditions of the aorta has grown considerably and continues to evolve with ongoing research into the pathophysiology of these conditions, technological advances in the modes of detection, and improved therapeutic options. Clinical databases, such as the International Registry of Acute Aortic Dissection (IRAD), the largest current registry for acute aortic syndromes, have also contributed tremendously to our knowledge of acute aortic pathology.For the practicing clinician, knowledge of aortic disease is paramount because patients with aortic conditions contribute significantly to the overall mortality from cardiovascular disease. This review discusses the pathophysiology, epidemiology, presentation, diagnosis, and therapeutic options for several forms of acute and chronic aortic pathology: aortic dissection (including its variants intramural hematoma [IMH] and penetrating atheromatous aortic ulcer) and thoracic aortic aneurysm (TAA). Literature searches were performed of the PubMed database using the following key words: aortic dissection, intramural hematoma, aortic ulcer, and thoracic aortic aneurysm. Retrospective and prospective studies conducted within the past 15 years, along with some data from years prior, were included in this review.

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Familial dissecting aortic aneurysm. A report of three cases within two generations.

Cited by 35 publications

References 12 publications

Novel Genetic Mechanisms for Aortic Aneurysms

Novel Genetic Mechanisms for Aortic Aneurysms

Early-Onset Familial Dilatation of the Ascending Aorta

Acute Aortic Syndromes and Thoracic Aortic Aneurysm

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