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Type A aortic dissection in pregnant patients with fibrillin-1 gene mutations: Two case reports and a literature review.

ABSTRACT: In acute aortic dissection (AD) in pregnancy, increased cardiovascular stress due to pregnancy is an important factor leading to an emergent aortic event. It is rare but often results in a devastating event for both the pregnant patient and the foetus. Two cases of acute AD (Stanford type A) in pregnant females are presented in the present study. The patients were diagnosed via echocardiography, and the diagnosis was confirmed with computed tomography angiography prior to aortic surgery. Up to 50% of ADs in pregnancy occur in patients with fibrillin-1 (FBN1) gene mutations. The FBN1 gene was sequenced in both patients, and notable, novel pathogenic mutations of FBN1 were identified in both patients. A literature review was also performed on available diagnostic imaging and other measurements regarding AD during pregnancy. The authors suggest that the relevant content may have important clinical implications in raising disease awareness, arranging test rationally and choosing an intervention method.

SUBMITTER: Lei Y

PROVIDER: S-EPMC6257332 | biostudies-other | 2018 Dec

REPOSITORIES: biostudies-other

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Type A aortic dissection in pregnant patients with fibrillin-1 gene mutations: Two case reports and a literature review.

Lei Yuanli Y Jiang Zhelong Z Chen Jiaozhen J Wang Dongsheng D Hong Guangliang G Chen Shouquan S

Experimental and therapeutic medicine 20180919 6

In acute aortic dissection (AD) in pregnancy, increased cardiovascular stress due to pregnancy is an important factor leading to an emergent aortic event. It is rare but often results in a devastating event for both the pregnant patient and the foetus. Two cases of acute AD (Stanford type A) in pregnant females are presented in the present study. The patients were diagnosed via echocardiography, and the diagnosis was confirmed with computed tomography angiography prior to aortic surgery. Up to 5 ...[more]

PMID: 30542390

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Project description:BackgroundHuntington's disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5-10% of cases, they manifest before the age of 21. This is then referred to as juvenile Huntington's disease. According to the small number of cases reported in the literature, the course of juvenile Huntington's disease significantly differs from adult onset and shows significant interpatient variability, making every case unique.Case presentationOur study aims to highlight the complexity and diversity of rare juvenile Huntington's disease. We report cases of two Caucasian patients with chronic tics referred to the Huntington's Disease Competence Center of Vilnius University Hospital Santaros Klinikos with suspicion of juvenile Huntington's disease due to the appearance of chronic motor tics, and behavior problems. The diagnosis of juvenile Huntington's disease was confirmed on both clinical and genetic grounds. In both cases described, the patients developed symptoms in all three main groups: motor, cognitive, and psychiatric. However, the first patient was experiencing more severe psychiatric symptoms; in the second case, motor symptoms (rigidity, tremor) were more prominent. In both cases, apathy was one of the first symptoms and affected patients' motivation to participate in treatment actively. These two case descriptions serve as an important message for clinicians seeing patients with chronic tics and gradually worsening mood and behavior, indicating the need to investigate them for rare genetic disorders.ConclusionsDescription of these two clinical cases of juvenile Huntington's disease provides insight into how differently it manifests and progresses in young patients and the difficulties the patients and their families face. There were different but painful ways for families to accept the diagnosis. Because the disease inevitably affects the patient's closest ones, it is crucial to also provide adequate psychological and social support to all the family members. Establishment of multidisciplinary specialist centers for Huntington's disease, as demonstrated by our experience, not only allows timely diagnosis and treatment plans but also ensures thorough disease management and care for patients and systematic support for their families.

Dataset Information

Type A aortic dissection in pregnant patients with fibrillin-1 gene mutations: Two case reports and a literature review.

Publications

Type A aortic dissection in pregnant patients with fibrillin-1 gene mutations: Two case reports and a literature review.

Similar Datasets

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