Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations

Surmacz, Rafał; Franaszczyk, Maria; Pyda, Małgorzata; Płoski, Rafał; Bilińska, Zofia T.; Bobkowski, Waldemar

doi:10.20452/pamw.4365

Cited by 2 publications

(3 citation statements)

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“…[ 52 ] Through autosomal recessive transmission, compound heterozygotic DSP variants are associated with an early-onset of nonsyndromic DCM. [ 53 ] Heliö et al [ 54 ] reported a DSP c.6310delA (p.Thr2104Glnfs∗12) variant in 17 individuals, 11 (65%) of whom fulfilled the DCM diagnostic criteria. Episodic myocardial injury in DSP cardiomyopathy contributes to progressive fibrosis that precedes the development of LV systolic dysfunction, an important difference when compared to typical DCM.…”

Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

“…However, mutations at the IDP, particularly those affecting the desmin-binding site of DSP, result in ARVC with predominant LV involvement and clinical overlaps with DCM [52] . Through autosomal recessive transmission, compound heterozygotic DSP variants are associated with an early-onset of nonsyndromic DCM [53] . Heliö et al [54] reported a DSP c.6310delA (p.Thr2104Glnfs∗12) variant in 17 individuals, 11 (65%) of whom fulfilled the DCM diagnostic criteria.…”

Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

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Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Yuan

Cheng

Wang

et al. 2021

Chinese Medical Journal

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Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion. It has been found that DSP regulates the transcription of adipogenic and fibrogenic genes, and maintains appropriate electrical conductivity by regulating gap junctions and ion channels. DSP is essential for normal myocardial development and the maintenance of its structural functions. Studies have suggested that DSP gene mutations are associated with a variety of hereditary cardiomyopathy, such as arrhythmia cardiomyopathy, dilated cardiomyopathy (DCM), left ventricular noncompaction, and is also closely associated with the Carvajal syndrome, Naxos disease, and erythro-keratodermia-cardiomyopathy syndrome with skin and heart damage. The structure and function of DSP, as well as the clinical manifestations of DSP-related cardiomyopathy were reviewed in this article.

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Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

Section: Dsp Cardiomyopathy Clinical Manifestationsmentioning

confidence: 99%

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Yuan

Cheng

Wang

et al. 2021

Chinese Medical Journal

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“…Mono-allelic dominant mutations in DSP have been associated with known cardiac disorders, like classic ARVC [15] and DCM [2,16], as well as sudden cardiac arrest [17] and sudden cardiac death [18]. Bi-allelic recessive DSP mutations cause Carvajal syndrome (syndromic form of DCM with palmoplantar keratoderma and woolly hair) [19][20][21] and familial nonsyndromic DCM [22]. Moreover, Smith et al proposed that the DSP cardiomyopathy is a distinct form of ACM, characterized by episodic myocardial injury and left ventricular fibrosis along with a high incidence of ventricular arrhythmias that precede systolic dysfunction [23].…”

Section: Introductionmentioning

confidence: 99%

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant

Chmielewski

Truszkowska

Kukla³

et al. 2020

Diagnostics

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Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy. During the course of DSP cardiomyopathy, episodes of acute myocardial injury may occur. While their mechanisms remain unclear, myocarditis has been postulated as an underlying cause. We report on an adolescent girl with arrhythmogenic biventricular cardiomyopathy and three acute myocarditis-like episodes in whom we found a novel truncating DSP variant accompanied by a known low penetrance R490K variant in the NLRP3. Upon family screening, other carriers of the DSP variant have been identified in whom only mild cardiac abnormalities were found. We hypothesized that the uncommon course of cardiomyopathy in the proband as well as striking discrepancies in the phenotype observed in her family may be explained by the co-existence of her low penetrance genetic autoinflammatory predisposition.

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Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations

Cited by 2 publications

References 0 publications

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant

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