Systolic anterior motion of the posterior mitral leaflet in obstructive hypertrophic cardiomyopathy with Noonan syndrome

Source: Journal of Echocardiography - Category: Cardiology Source Type: research

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Conclusions: Our study revealed the human cardiac pathogenesis in patient-specific iPSC-CMs from NS patients carrying biallelic variants in LZTR1 and identified a unique disease-specific proteome signature. In addition, we identified the intronic CRISPR repair as a personalized and in our view clinically translatable therapeutic strategy to treat NS-associated HCM. PMID: 32623905 [PubMed - as supplied by publisher]
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
In this study, we implemented a hybrid computational drug repositioning framework by integrating transcriptomic and structure-based approaches to explore potential treatment options for NS and LS. Specifically, disease signatures were derived from the transcriptomic profiles of human induced pluripotent stem cells (iPSCs) from NS and LS patients and reverse correlated to drug transcriptomic signatures from CMap and L1000 projects on the basis that if disease and drug transcriptomic signatures are reversely correlated, the drug has the potential to treat that disease. The compounds that were ranked top based on their transc...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
AbstractA 4-year-old boy with Noonan syndrome accompanied by hypertrophic obstructive cardiomyopathy presented with refractory heart failure owing to severe left ventricular outflow obstruction and mitral regurgitation. He underwent mitral valve replacement and trans-mitral myectomy. The pathology of the resected myocardium was consistent with hypertrophic cardiomyopathy, and the mitral valve leaflets were severely degenerated. Compared with a control patient who is a non-syndromic 4-year-old boy with hypertrophic obstructive cardiomyopathy, mitral pathology was much more severe in Noonan syndrome. Regarding trans-mitral m...
Source: General Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
We present a case of double ‐chambered right ventricle (DCRV) complicated by hypertrophic obstructive cardiomyopathy (HOCM) inKRAS mutation ‐associated Noonan syndrome. The diagnosis was incidental and made during diagnostic testing for an intradural extramedullary tumour. Spinal compression, if not surgically treated, may cause paralysis of the extremities. We decided to pursue pharmacological therapy to control biventricular obstruc tions and reduce the perioperative complication rate. We initiated treatment with cibenzoline and bisoprolol; the doses were titrated according to the response. After 2 weeks, the peak pr...
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
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Source: Journal of Cardiovascular Medicine - Category: Cardiology Tags: Images in cardiovascular medicine Source Type: research
RASopathies are a group of rare genetic diseases caused by germline mutations in genes involved in the RAS–mitogen-activated protein kinase (RAS-MAPK) pathway. Whole-exome sequencing (WES) is a powerful approach for identifying new variants in coding and noncoding DNA sequences, including miRNAs. miRNAs are fine-tuning negative regulators of gene expression. The presence of variants in miRNAs could lead to malfunctions of regulation, resulting in diseases. Here, we identified 41 variants in mature miRNAs through WES analysis in five patients with previous clinical diagnosis of RASopathies syndromes. The pathways, bio...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Authors: Shoji Y, Ida S, Niihori T, Aoki Y, Okamoto N, Etani Y, Kawai M Abstract Noonan syndrome (NS) is a heterogeneous disorder with multiple congenital malformations. Recent advances in molecular and genetic approaches have identified a number of responsible genes for NS, most of which are components of the RAS/MAPK signaling pathway, and genotype-phenotype correlation analyses have been extensively performed; however, analysis of Japanese NS patients is limited. Here, we evaluated clinical characteristics in genetically diagnosed NS patients and their relationships to genotypes. A total of 48 clinically diagnos...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
ConclusionThis case demonstrates that sudden cardiac arrest in patients with secondary forms of hypertrophic cardiomyopathy is not necessarily protected by apparently favorable phenotypes and that events may be preceded by non-sustained ventricular tachycardia observed by Holter monitoring. Implantable cardioverter defibrillator implantation plays a critical role in both primary and secondary prevention in patients at high risk of out-of-hospital cardiac arrest.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
CONCLUSIONS: Taken together, our study identifies the molecular mechanisms by which NS RAF1 mutations cause HCM and reveals downstream effectors that could serve as therapeutic targets for treatment of NS, and perhaps other, more common, congenital HCM disorders as well. PMID: 31163979 [PubMed - as supplied by publisher]
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
Authors: Karnik R, Geiger M Abstract Noonan syndrome NS, a RASopathy, is commonly seen in association with cardiovascular abnormalities, with structural defects and/or cardiomyopathy present in 80-90-% of cases. Though a wide spectrum of cardiac pathology has been reported, pulmonary stenosis is the most common structural abnormality and more likely to be seen in PTPN11 mutations. Hypertrophic cardiomyopathy is the second most common and is more often associated with RAF1 mutations. Cardiac disease tends to be more progressive in infants and children with NS and therefore close cardiology follow-up is indicated. In...
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
More News: Cardiology | Cardiomyopathy | Heart | Hypertrophic Cardiomyopathy | Noonan Syndrome