- Mind the Gap: Genetic Variation and Personalized Therapies for Cardiomyopathies. [Journal Article]
- LGLifestyle Genom 2018 Sep 19; :1-3
- Inherited cardiomyopathies are cardiovascular disorders that are one of the leading causes of death and are strongly associated with genetic mutations. These include hypertrophic, dilated, restrictiv...
Inherited cardiomyopathies are cardiovascular disorders that are one of the leading causes of death and are strongly associated with genetic mutations. These include hypertrophic, dilated, restrictive, as well as arrhythmogenic right ventricular cardiomyopathies. Among the patients presenting with these specific forms of cardiomyopathies, there is significant phenotypic, genotypic, and environmental heterogeneity. Over the years, the identification of the underlying mutations common to specific forms of cardiomyopathies have facilitated clinic diagnosis. However, the variation between patient genetics and phenotypes highlights the need for improved understanding of these diseases and the development of innovative treatments. To better understand the diseases, researchers are capitalizing on two innovative technologies: cardiac reprogramming and gene editing using CRISPR-Cas9. Deriving cardiomyocytes from patient blood samples and gene editing allows for the efficient generation of cellular and animal models that allow researchers to model the disease more accurately. In addition, the recent advances in high throughput drug screening allows for the efficient testing of patient-derived cardiomyocytes for patient-specific susceptibility to various drugs that are currently approved. In addition, this technology can facilitate the development of new pharmacological compounds for the treatment of specific cardiomyopathies. Overall, the recent technological advances in molecular medicine now presents an opportunity to gain unprecedented insight into solving the complex issue of inherited cardiomyopathies. These techniques pave the way for the new generation of personalized medicine in treating cardiovascular diseases.
- Endomyocardial Fibrosis With End-Stage Heart Failure as a Consequence of a Myeloproliferative Neoplasm With Hypereosinophilia. [Journal Article]
- CJCan J Cardiol 2018; 34(9):1233.e13-1233.e15
- Hypereosinophilic syndrome is characterized by an overproduction of eosinophils that infiltrate and damage multiple organs. Cardiac dysfunction occurs frequently and is a main cause of morbidity and ...
Hypereosinophilic syndrome is characterized by an overproduction of eosinophils that infiltrate and damage multiple organs. Cardiac dysfunction occurs frequently and is a main cause of morbidity and mortality. We describe the case of a middle-aged man diagnosed with a myeloproliferative neoplasm associated with hypereosinophilia and treated with imatinib. He was diagnosed with cardiac involvement by hypereosinophilic syndrome at a late stage, with an established restrictive cardiomyopathy. Because of end-stage heart failure, he successfully received a heart transplant. This disease might not be considered a contraindication for heart transplantation.
- Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. [Journal Article]
- JTJ Transl Med 2018 Aug 30; 16(1):241
- CONCLUSIONS: This study provides an overview of the genetic aberrations in this cohort of Chinese IC patients and demonstrates the power of next generation sequencing in IC. Genetic results can provide precise clinical diagnosis and guidance regarding medical care for some individuals.
- Diastolic dysfunction evaluated by cardiac magnetic resonance: the value of the combined assessment of atrial and ventricular function. [Journal Article]
- EREur Radiol 2018 Aug 20
- CONCLUSIONS: Analysis of LV and LA V/t curves by CMR may be useful for the evaluation of DD.• Combined atrial and ventricular volume/time curves allow evaluation of diastolic function. • Atrial emptying fraction allows distinction between impaired relaxation and restrictive/pseudo-normal filling. • Isovolumetric pulmonary vein transit ratio allows distinction between restrictive and pseudo-normal filling.
- Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. [Journal Article]
- EJEur J Heart Fail 2018 Aug 02
- CONCLUSIONS: Ile68Leu ATTRm is a cause of familial amyloidotic cardiomyopathy endemic in central-northern Italy and presents as hypertrophic/restrictive cardiomyopathy quite similar to ATTRwt. Male preponderance is present in affected patients but not in unaffected mutation carriers. Age-adjusted survival is similar to ATTRwt.
- [Beneficial Effects of Restrictive Annuloplasty on Subvalvular Geometry in Patients with Functional Mitral Regurgitation and Advanced Cardiomyopathy]. [Journal Article]
- KGKyobu Geka 2018; 71(7):496-504
- CONCLUSIONS: RMA procedure partially relieved leaflet tethering, evidenced by decreased tethering distances and IPMD;the latter was the main determinant of MR. These beneficial effects might be mainly attributed to post-RMA reverse LV remodeling, potentially offsetting the negative effect of augmented PLA in selected patients.
- Immunoglobulin Light Chain Amyloidosis: 2018 Update on Diagnosis, Prognosis, and Treatment. [Journal Article]
- AJAm J Hematol 2018 Jul 24
- CONCLUSIONS: N-terminal pro-brain natriuretic peptide (NT-proBNP), serum troponin T, and difference between involved and uninvolved immunoglobulin free light chain values are used to classify patients into four groups of similar size; median survivals are 94.1, 40.3, 14.0, and 5.8 months.
- [What gnaws at the heart and gets on the nerves]. [Journal Article]
- IInternist (Berl) 2018 Jul 23
- Transthyretin is a transport protein for thyroxine and retinol-binding protein, which is mainly produced in the liver. Hereditary transthyretin-related amyloidosis (ATTR) is caused by one of more tha...
Transthyretin is a transport protein for thyroxine and retinol-binding protein, which is mainly produced in the liver. Hereditary transthyretin-related amyloidosis (ATTR) is caused by one of more than 120 point mutations in the transthyretin gene and inherited as an autosomal dominant disorder. The mutations cause a reduction in the stability of the tetrameric structure and dissociation into dimers and monomers as the rate-limiting step in amyloid formation is promoted. Clinical symptoms are related to the specific mutation, the age of onset, the ethnic background and environmental factors. The nerves, heart, eyes and intestines are paticularly affected. In general, two different age peaks are observed. An accumulation occurs at the age of 25-35 years with predominantly neurological symptoms. The second peak occurs between the ages of 55 and 65 years and is commonly associated with cardiac involvement with or without polyneuropathy. Characteristic for the nerve involvement are the symmetrical small fiber polyneuropathy and an autonomous polyneuropathy. The typical picture of cardiac involvement is biventricular hypertrophy with diastolic dysfunction finally resulting in restrictive cardiomyopathy. In addition to the symptomatic treatment for the alleviation of individual organ disorders, for many years liver transplantation was the only causal therapy of ATTR amyloidosis. Since 2011 tafamidis, a highly selective transthyretin stabilizer, has been the first drug approved for treatment of ATTR resulting in reduction of the progression of polyneuropathic symptoms. Other therapeutic approaches to reduce amyloid formation (patisiran and inotersen) effectively reduce transthyretin blood levels, leading to a reduction in polyneuropathy and improved quality of life. The approval is expected in 2018.
- BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy. [Journal Article]
- MGMol Genet Metab Rep 2018; 15:65-66
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- Endomyocardial fibrosis (EMF) is a rare disease in North America but common in the tropical and subtropical regions of the developing world. It is characterized by fibrosis of the left ventricular an...
Endomyocardial fibrosis (EMF) is a rare disease in North America but common in the tropical and subtropical regions of the developing world. It is characterized by fibrosis of the left ventricular and right ventricular endocardium which cause restrictive cardiomyopathy. In endemic areas of Africa, endomyocardial fibrosis is an important cause of heart failure accounting for up to 20% of the cases. Currently, the exact etiology and pathogenesis of the disease remain unknown. However, its pathology resembles conditions such as eosinophilic cardiomyopathy and hypereosinophilic syndrome. As a result, EMF is sometimes considered part of a single disease process that also includes Loffler endocarditis (eosinophilic endomyocardial fibrosis).