Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome

Tokue, Masahide; Hara, Hidehiko; Kurosawa, Kenji; Nakamura, Masato

doi:10.1136/bcr-2017-220786

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…To the best of our knowledge, there is no previous description of intramyocardial hemorrhage in acute myopericarditis in the absence of concomitant pathology. Only two cases of intramyocardial bleeding were reported in the literature due to vascular Ehlers-Danlos syndrome [6] and thrombotic thrombocytopenic purpura [5] . Intramyocardial haemorrhage in the context of acute myocardial infarction is widely reported.…”

Section: Discussionmentioning

confidence: 99%

Intramyocardial haemorrhage: a rare sequela of acute myopericarditis

2021

IJCR

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INTRODUCTION Acute myopericarditis is an inflammatory disease of myocardium and pericardium. The disease has variable presentation ranging from mildly symptomatic cases to severe disease manifested by cardiomyopathy with associated risk of sudden cardiac death. However, the association with intramyocardial hemorrhage (IMH) has not been previously described. CASE REPORT We describe an IMH detected by cardiac magnetic resonance imaging, in a patient with classical ‘de novo’ myopericarditis. To the best of the authors’ knowledge, this has not been previously described in patients without associated haematological or connective tissue disorders. CONCLUSION The adverse prognostic signal of IMH in acute myocardial infarction may also be reflected by IMH in acute myopericarditis and lead to adverse ventricular remodeling. The pathophysiology of IMH in myopericarditis is unknown and warrants further exploration.

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Section: Discussionmentioning

confidence: 99%

Intramyocardial haemorrhage: a rare sequela of acute myopericarditis

2021

IJCR

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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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