Mother's heartbreak as one of her poorly twins received a new heart while the other is waiting
Mila Costa's identical two year olds, Benjamin and Enzo, have a heart defect, dilated cardiomyopathy. Doctors in Brazil gave Enzo a new heart and he has since bounced back.
We present two young patients (
ConclusionsWe describe a unique and novel cellular model that provides insight into the mitochondrial abnormalities present in DCMA and identifies SS-31 as a potential therapeutic for this devastating disease.
Nature Reviews Cardiology, Published online: 11 October 2019; doi:10.1038/s41569-019-0284-0In this Review, Rosenbaum and colleagues give a broad perspective on the genetic causes of dilated cardiomyopathy to provide a context for a discussion of the pragmatic use of genetic testing in heart failure clinics for patients presenting with new-onset dilated cardiomyopathy.
The time course for hemodynamic normalization after pediatric heart transplantation (HTx) has not been well characterized. We hypothesized that single ventricle patients would normalize later than those with dilated cardiomyopathy (DCM). Establishing the expected course based on the underlying pathophysiology will allow identification of patients who are outliers requiring further investigation.
Publication date: Available online 8 October 2019Source: Best Practice &Research Clinical Obstetrics &GynaecologyAuthor(s): Benjamin Wainwright, Rohit Bhan, Catherine Trad, Rebecca Cohen, Amit Saxena, Jill Buyon, Peter IzmirlyAbstractAutoimmune-mediated congenital heart block (CHB) is a severe manifestation of neonatal lupus in which conduction tissues of the fetal heart are damaged. This occurs due to passive transference of maternal Ro (SSA) and La (SSB) autoantibodies, and subsequent inflammation and fibrosis of the atrioventricular (AV) node. Notably, the disease manifests after the fetal heart has structurally...
Publication date: Available online 7 October 2019Source: Journal of Cardiology CasesAuthor(s): Genzou Takemura, Kenji Onoue, Takanori Arimoto, Tetsu Watanabe, Akiko Tsujimoto, Chihiro Takada, Hideshi Okada, Tomoya Nakano, Yasuhiro Sakaguchi, Nagisa Miyazaki, Takatomo Watanabe, Hiromitsu Kanamori, Shinji Ogura, Yoshihiko Saito, Takako Fujiwara, Hisayoshi Fujiwara, Yasuaki HottaAbstractWe encountered an unfamiliar finding during electron microscopic examination of an endomyocardial biopsy obtained from a 55-year-old woman suffering from heart failure due to dilated phase hypertrophic cardiomyopathy. Many cardiomyocytes conta...
In conclusion, AF seems to have a higher prevalence in the general population than previously thought, and is mostly associa ted with hypertension, cardiomyopathy and rheumatic heart disease in SSA. It is associated with a high incidence of heart failure and stroke. The management of AF is suboptimal in SSA, especially with a low uptake of oral anticoagulation.This article is protected by copyright. All rights reserved.
Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We evaluated FLNC variants in arrhythmogenic cardiomyopathy (ACM) and investigated the disease mechanism at a molecular level.
Conclusions: We demonstrate that Cronos titin is expressed in developing human cardiomyocytes and is able to support partial sarcomere formation in the absence of full-length titin. Further, Cronos titin is necessary for proper sarcomere function in hiPSC-CMs. Additional investigation is necessary to understand the molecular mechanisms of this novel isoform and how it contributes to human cardiac disease. PMID: 31587567 [PubMed - as supplied by publisher]
Conclusions: We report the identification of a novel mutation in RBM20 by WES in a large pedigree with DCM. PMID: 31583969 [PubMed - as supplied by publisher]