collection
MENU ▼
Read by QxMD icon Read
search

Heritable Cardiomyopathies

shared collection
7 papers 0 to 25 followers
https://www.readbyqxmd.com/read/27617087/arrhythmogenic-cardiomyopathy-electrical-and-structural-phenotypes
#1
Deniz Akdis, Corinna Brunckhorst, Firat Duru, Ardan M Saguner
This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes...
August 2016: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/26582592/genetic-testing-and-genetic-counseling-in-patients-with-sudden-death-risk-due-to-heritable-arrhythmias
#2
Katherine G Spoonamore, Stephanie M Ware
Sudden cardiac death due to heritable ventricular arrhythmias is an important cause of mortality, especially in young healthy individuals. The identification of the genetic basis of Mendelian diseases associated with arrhythmia has allowed the integration of this information into the diagnosis and clinical management of patients and at-risk family members. The rapid expansion of genetic testing options and the increasing complexity involved in the interpretation of results creates unique opportunities and challenges...
March 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27681577/update-on-hypertrophic-cardiomyopathy-and-a-guide-to-the-guidelines
#3
Srijita Sen-Chowdhry, Daniel Jacoby, James C Moon, William J McKenna
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment...
November 2016: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/27576561/genotype-phenotype-associations-in-dilated-cardiomyopathy-meta-analysis-on-more-than-8000-individuals
#4
Elham Kayvanpour, Farbod Sedaghat-Hamedani, Ali Amr, Alan Lai, Jan Haas, Daniel B Holzer, Karen S Frese, Andreas Keller, Katrin Jensen, Hugo A Katus, Benjamin Meder
AIMS: Routine genetic testing in Dilated Cardiomyopathy (DCM) has recently become reality using Next-Generation Sequencing. Several studies have explored the relationship between genotypes and clinical phenotypes to support risk estimation and therapeutic decisions, however, most studies are small or restricted to a few genes. This study provides to our knowledge the first systematic meta-analysis on genotype-phenotype associations in DCM. METHODS AND RESULTS: We retrieved PubMed/Medline literature on genotype-phenotype associations in patients with DCM and mutations in LMNA, PLN, RBM20, MYBPC3, MYH7, TNNT2 and TNNI3...
August 30, 2016: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/27339497/the-diagnosis-and-evaluation-of-dilated-cardiomyopathy
#5
REVIEW
Alan G Japp, Ankur Gulati, Stuart A Cook, Martin R Cowie, Sanjay K Prasad
Dilated cardiomyopathy (DCM) is best understood as the final common response of myocardium to diverse genetic and environmental insults. A rigorous work-up can exclude alternative causes of left ventricular (LV) dilation and dysfunction, identify etiologies that may respond to specific treatments, and guide family screening. A significant proportion of DCM cases have an underlying genetic or inflammatory basis. Measurement of LV size and ejection fraction remain central to diagnosis, risk stratification, and treatment, but other aspects of cardiac remodeling inform prognosis and carry therapeutic implications...
June 28, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27109894/pharmacological-treatment-of-hypertrophic-cardiomyopathy-current-practice-and-novel-perspectives
#6
REVIEW
Enrico Ammirati, Rachele Contri, Raffaele Coppini, Franco Cecchi, Maria Frigerio, Iacopo Olivotto
Hypertrophic cardiomyopathy (HCM) is entering a phase of intense translational research that holds promise for major advances in disease-specific pharmacological therapy. For over 50 years, however, HCM has largely remained an orphan disease, and patients are still treated with old drugs developed for other conditions. While judicious use of the available armamentarium may control the clinical manifestations of HCM in most patients, specific experience is required in challenging situations, including deciding when not to treat...
September 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/26884609/complexities-of-genetic-testing-in-familial-dilated-cardiomyopathy
#7
Matthew J Wolf, Dagny Noeth, Chidambaram Rammohan, Svati H Shah
No abstract text is available yet for this article.
February 2016: Circulation. Cardiovascular Genetics
1
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"