Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Byard, Roger W.

doi:10.1111/1556-4029.13466

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…The age range for aortic dissection in pregnancy is 22 to 39 years with those at highest risk having an aortic root diameter of > 40 mm (as in the present case), a previous dissection and/ or Marfan syndrome [3,4]. Additional risk factors include other connective tissue and genetic disorders such as Loeys-Dietz, Ehlers-Danlos, and Turner syndromes, anatomical anomalies such as bicuspid aortic valve and aortic coarctation, acute myocardial infarction, heavy smoking, obesity, and/or cocaine use [5][6][7][8]. A further group of familial aortopathies has been identified which are known as heritable thoracic aortic aneurysm and dissection (h-TAAD).…”

Section: Discussionmentioning

confidence: 63%

Pregnancy-associated aortopathy and sudden postpartum death

Byard

2023

Forensic Sci Med Pathol

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A 39-year-old woman who had undergone an uncomplicated elective cesarean section for a low-lying placenta collapsed and died the following day. At autopsy, there was dissection of an aneurysmally-dilated thoracic aorta with 400 mls of fluid and clotted blood in the pericardial sac. There were no features of Marfan syndrome or other connective tissue disorders. Histology revealed thinning of the aortic wall with fragmentation of elastic fibers and no inflammation. Vessels elsewhere were normal. This case demonstrates a rare complication of pregnancy that may not present until after delivery with unexpected collapse and sudden death. Predisposing factors include an increased cardiac output, reduction in systemic vascular resistance, an increase in left ventricular muscle mass, and alterations in serum progesterone and estrogen levels which may cause structural changes to the aortic wall. The possibility of syndromic and familial connective tissue disorders should also be considered.

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Section: Discussionmentioning

confidence: 63%

Pregnancy-associated aortopathy and sudden postpartum death

Byard

2023

Forensic Sci Med Pathol

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“…Histological examination showed extensive breakage of elastic fibers in the aortic and pulmonic walls (Figure 1J). Molecular genetic testing ultimately confirmed the diagnosis of Loeys‐Dietz syndrome(LDS) typeIIdue to a genetic mutation in TGFBR2 3 …”

Section: Figurementioning

confidence: 95%

“…Molecular genetic testing ultimately confirmed the diagnosis of Loeys-Dietz syndrome(LDS) typeIIdue to a genetic mutation in TGFBR2. 3…”

mentioning

confidence: 99%

Imaging appearance of atypical aortic dissection in a 7‐year‐old boy with Loeys‐Dietz syndrome

Xia

Cheng

et al. 2022

J of Clinical Ultrasound

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Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments

Galante,

Bedeschi,

Beltrami

et al. 2024

Int J Legal Med

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Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of inherited diseases. These disorders show genetic mutations with loss of function of primary components of connective tissue, such as collagen and elastic fibers. There are more than 200 conditions that involve hereditary connective tissue disorders, while the most known are Marfan syndrome, Osteogenesis Imperfecta, and Ehlers-Danlos syndromes. These disorders need continuous updates, multidisciplinary skills, and specific methodologic evaluations sharing many medicolegal issues. Marfan syndrome and Ehlers-Danlos syndromes show a high risk of early sudden death. As a consequence of this, postmortem genetic testing can identify novel genotype–phenotype correlations which help the clinicians to assess personalized cardiovascular screening programs among the ill subjects. Genetic testing is also essential to identify children suffering from Osteogenesis Imperfecta, especially when a physical abuse is clinically suspected. However, this is a well-known clinical problem even though there are still challenges to interpret genetic data and variants of unknown significance due to the current extensive use of new genetic/genomic techniques. Additionally, the more significant applications and complexities of genomic testing raise novel responsibilities on the clinicians, geneticists, and forensic practitioners as well, increasing potential liability and medical malpractice claims. This systematic review provides a detailed overview on how multidisciplinary skills belonging to clinicians, medicolegal consultants, radiologists, and geneticists can cooperate to manage HCTDs from autopsy or clinical findings to genetic testing. Thus, technical aspects need to be addressed to the medicolegal community since there is no consensus works or guidelines which specifically discuss these issues.

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Manifestations and Medicolegal Significance of Loeys–Dietz Syndrome

Cited by 4 publications

References 34 publications

Pregnancy-associated aortopathy and sudden postpartum death

Pregnancy-associated aortopathy and sudden postpartum death

Imaging appearance of atypical aortic dissection in a 7‐year‐old boy with Loeys‐Dietz syndrome

Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments

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