Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)

Matsumoto, Tae; Watanabe, Atsushi; Migita, Makoto; Gocho, Yoshihiro; Hayakawa, Jun; Ogawa, Satoshi; Shimada, Takashi; Fukunaga, Yoshitaka

doi:10.1272/jnms.73.285

Cited by 23 publications

(8 citation statements)

References 8 publications

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“…Investigations for neuromuscular disorders were proposed but have not yet been carried out. Neuromuscular disorders have been previously identified in patients with TTC [20,21], and due to the clinical presentation it cannot be excluded that the described patient also suffered from a mild neuromuscular disorder.…”

Section: Discussionmentioning

confidence: 87%

Assault-induced Takotsubo cardiomyopathy associated with persisting anterograde amnesia and myopathy

et al. 2010

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Takotsubo cardiomyopathy is characterized by transient left ventricular dysfunction, electrocardiographic changes, and minimal release of myocardial enzymes that mimic acute myocardial infarction in patients without coronary artery disease. Takotsubo cardiomyopathy is frequently triggered by emotional or physical stress and occurs primarily in post-menopausal women. The pathomechanism of Takotsubo cardiomyopathy is, so far, unknown. Stress-induced amnesia is probably induced by perturbation of the hippocampal function. Assault-induced Takotsubo cardiomyopathy associated with amnesia has not been reported so far. In a 77-year-old Caucasian female, hospitalized because of confusion, anterograde amnesia, and hypertension after she had been assaulted by a female who sneaked up to her when she was unlocking the door of her apartment, Takotsubo cardiomyopathy was diagnosed based on clinical findings, electrocardiography, echocardiography, and coronary angiography. Follow-up after 8 weeks showed a regression of electrocardiographic and echocardiographic abnormalities; the amnesia for the assault, however, remained unchanged. This case shows that Takotsubo cardiomyopathy may be triggered by emotional stress induced during an assault. Assault-induced stress may not only induce Takotsubo cardiomyopathy but also amnesia for some of the events that occurred during the act.

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Section: Discussionmentioning

confidence: 87%

Assault-induced Takotsubo cardiomyopathy associated with persisting anterograde amnesia and myopathy

et al. 2010

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“…CCA is phenotypically related to MFS, including tall stature, marfanoid habitus, arachnodactyly, camptodactyly, kyphoscoliosis and pectus excavatum [ 22 ]. However, CCA patients have crumpled appearance of ear helix and multiple joint contractures (especially elbow, knee and finger joints), and usually do not produce the ocular and life-threatening cardiovascular complications observed in MFS [ 23 , 24 ]. CCA can be distinguished from MFS genetically because CCA is caused by the mutation of the FBN2 gene, whereas MFS is caused by the FBN1 gene defects.…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Deng

Lü

et al. 2016

PLoS ONE

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Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. The aim of this study is to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly by exome sequencing. The clinical features of patients in this family are consistent with CCA. A novel missense mutation, c.3769T>C (p.C1257R), in the fibrillin 2 gene (FBN2) was identified responsible for the genetic cause of our family with CCA. The p.C1257R mutation occurs in the 19th calcium-binding epidermal growth factor-like (cbEGF) domain. The amino acid residue cysteine in this domain is conserved among different species. Our findings suggest that exome sequencing is a powerful tool to discover mutation(s) in CCA. Our results may also provide new insights into the cause and diagnosis of CCA, and may have implications for genetic counseling and clinical management.

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“…For example, Su et al reported that approximately one-third of 28 Taiwan patients with CCA had congenital heart disease (10), and Matsumoto et al described the case of a CCA newborn boy who developed transient cardiomyopathy with LV noncompaction-like structures (6). In addition, two CCA Western families (1, 11) and one Japanese family (N. Takeda, unpublished data 2014) with exon 32 deletions of the FBN2 gene were reported to be affected by progressive aortic root dilatation and/or dissection.…”

Section: Discussionmentioning

confidence: 99%

“…However, there is currently only one published case of cardiomyopathy complicated by CCA (6), in which a newborn boy presented with a transient dilated left ventricular chamber composed of noncompaction-like structures that improved spontaneously. We herein present a sporadic case of CCA without FBN1 or FBN2 gene mutations complicated by severe dilated cardiomyopathy (DCM).…”

Section: Introductionmentioning

confidence: 99%

Congenital Contractural Arachnodactyly without <i>FBN1</i> or <i>FBN2</i> Gene Mutations Complicated by Dilated Cardiomyopathy

et al. 2015

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Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy. The patient did not have any mutations in the FBN1 or FBN2 genes, which are most commonly associated with Marfan syndrome and CCA, respectively. Although whether these two diseases are caused by a mutation(s) in the same gene or two different genes remains unknown, this case provides new clinical insight into the cardiovascular management of CCA.

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Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)

Cited by 23 publications

References 8 publications

Assault-induced Takotsubo cardiomyopathy associated with persisting anterograde amnesia and myopathy

Assault-induced Takotsubo cardiomyopathy associated with persisting anterograde amnesia and myopathy

Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Congenital Contractural Arachnodactyly without <i>FBN1</i> or <i>FBN2</i> Gene Mutations Complicated by Dilated Cardiomyopathy

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