The perfect storm? Histiocytoid cardiomyopathy and compound <i>CACNA2D1</i> and <i>RANGRF</i> mutation in a baby

Cataldo, Stefania; Annoni, G; Marziliano, Nicola

doi:10.1017/s1047951113002382

Cited by 9 publications

(8 citation statements)

References 6 publications

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“…The ablation target was the Purkinje tissue and anterior left bundle of His. One patient survived after a heart transplantation, and the other died of a cerebral haemorrhage after VAD therapy 9 , 10 . Our case was a successful ablation of PVCs triggering TdP at the earliest ventricular sites.…”

Section: Discussionmentioning

confidence: 75%

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Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report

Hirano

Aoki

Ichikawa

et al. 2019

European Heart Journal - Case Reports

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Background A short-coupled variant of torsade de pointes (ScTdP) is rare and resistant to medical treatment. There has not been a reported catheter ablation (CA) of a short-coupled premature ventricular contraction (PVC) triggering ScTdP in an infant. Case summary A neonate was referred to our hospital on the day of birth for Wolff–Parkinson–White syndrome, repeated episodes of supraventricular tachycardia, and a left ventricular non-compaction. She underwent CA of an accessory pathway at 72 days of age. On the 5th day after ablation, she had recurrent TdP episodes resistant to various antiarrhythmic drugs and received extracorporeal membrane oxygenation at 86 days of age. She underwent CA of PVCs triggering TdP at 122 days of age and a weight of 3.4 kg. Two types of PVCs triggering TdP were successfully ablated, which originated from the right ventricle (RV). Pre-potentials were recorded at the earliest ventricular activation sites of the targeted PVCs. After the ablation, she had no TdP episodes and the cardiac assist device was removed. However, she died of uncontrolled heart failure at 6 months of age. The histological findings were compatible with histiocytoid cardiomyopathy and abnormal cells were distributed throughout both ventricles. At the ablation site, fibrotic transmural lesions were noted in the RV wall. Discussion The PVCs triggering TdP were successfully ablated in a 4-month-old girl with histiocytoid cardiomyopathy. The PVCs were likely caused by triggered activity and associated with abnormal Purkinje cells.

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Section: Discussionmentioning

confidence: 75%

“…Those PVCs could arise from the Purkinje system. Ablation therapy has also been reported in two cases of histiocytoid cardiomyopathy and VT, but the outcomes were far from satisfactory 9 , 10 . The ablation target was the Purkinje tissue and anterior left bundle of His.…”

Section: Discussionmentioning

confidence: 99%

Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report

Hirano

Aoki

Ichikawa

et al. 2019

European Heart Journal - Case Reports

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“…Multiple genes, including CACNA2D1, DGKG, AK057298, TOP1, BC035080, PLCG1, ZHX3, LPIN3, and EMILIN3, are located in these two region pairs. CACNA2D1 has been found to be involved in cardiomyopathy pathway [21, 22]. Besides, ZHX3 is reported to be associated with left ventricle wall thickness [23].…”

Section: Resultsmentioning

confidence: 99%

Region-based interaction detection in genome-wide case-control studies

Zhang

Jiang

et al. 2019

BMC Med Genomics

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BackgroundIn genome-wide association study (GWAS), conventional interaction detection methods such as BOOST are mostly based on SNP-SNP interactions. Although single nucleotides are the building blocks of human genome, single nucleotide polymorphisms (SNPs) are not necessarily the smallest functional unit for complex phenotypes. Region-based strategies have been proved to be successful in studies aiming at marginal effects.MethodsWe propose a novel region-region interaction detection method named RRIntCC (region-region interaction detection for case-control studies). RRIntCC uses the correlations between individual SNP-SNP interactions based on linkage disequilibrium (LD) contrast test.ResultsSimulation experiments showed that our method can achieve a higher power than conventional SNP-based methods with similar type-I-error rates. When applied to two real datasets, RRIntCC was able to find several significant regions, while BOOST failed to identify any significant results. The source code and the sample data of RRIntCC are available at http://bioinformatics.ust.hk/RRIntCC.html.ConclusionIn this paper, a new region-based interaction detection method with better performance than SNP-based interaction detection methods has been proposed.

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“…12 RANGRF mutations were related to BS and histiocytoid cardiomyopathy in the literature. 12,13 AKAP9 encodes for a scaffolding protein (A-kinase anchor protein 9) and is related to LQTS, BS, cardiomyopathy, atrial fibrillation, severe ventricular arrhythmia, and SUD. [14][15][16] Case 2 (family 2, II:1) with SUD had 3 missense VUS in the KCND3, AKAP9, and KCNE1 genes.…”

Section: Discussionmentioning

confidence: 99%

“…RANGRF codes for Ran Guanin Nucleotide Release Factor and regulates the expression and function of the Nav1.5 cardiac sodium channel in humans 12 . RANGRF mutations were related to BS and histiocytoid cardiomyopathy in the literature 12,13 . AKAP9 encodes for a scaffolding protein (A-kinase anchor protein 9) and is related to LQTS, BS, cardiomyopathy, atrial fibrillation, severe ventricular arrhythmia, and SUD 14–16 …”

Section: Discussionmentioning

confidence: 99%

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy

Turkgenc,

Baydar,

Deniz

et al. 2023

Applied Immunohistochemistry &Amp; Molecular Morphology

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Sudden cardiac death is a sudden, unexpected death developed by one of the many different causes of cardiac arrest that occur within 1 hour of the onset of new symptoms. Sudden unexplained death (SUD) comprises a normal heart at postmortem examination and negative toxicological analysis. SUD often arises from cardiac genetic disease, particularly channelopathies. Channelopathies, or inherited arrhythmia syndromes, are a group of disorders characterized by an increased risk of sudden cardiac death, abnormal cardiac electrical function, and, typically, a structurally normal heart. They share an underlying genetic etiology where disease-causing genetic variants may lead to the absence or dysfunction of proteins involved in the generation and propagation of the cardiac action potential. Our study aimed to evaluate the importance of next-generation sequencing in the postmortem investigations of SUD cases. In this study, 5 forensic SUD cases were investigated for inherited cardiac disorders. We screened a total of 68 cardiac genes for the sibling of case 1, as well as case 2, and 51 genes for cases 3, 4, and 5. Of the 12 variants identified, 2 likely pathogenic variants (16.7%) were the TMEM43_ c.1000+2T>C splice site mutation and the SCN5A_ p.W703X nonsense mutation. The remaining 10 variants of uncertain significance were detected in the TRPM4, RANGRF, AKAP9, KCND3, KCNE1, DSG2, CASQ1, and SNTA1 genes. Irrespective of genetic testing, all SUD families require detailed clinical testing to identify relatives who may be at risk. Molecular autopsy and detailed premorbid clinical and family histories can survive family members of SUD cases.

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The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby

Cited by 9 publications

References 6 publications

Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report

Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report

Region-based interaction detection in genome-wide case-control studies

From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy

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