Genetics should inform care in noncompaction cardiomyopathy

February 14, 2018

(HealthDay)—Genetic stratification should play a role in clinical care of patients with noncompaction cardiomyopathy (NCCM), according to a study published in the Feb. 20 issue of the Journal of the American College of Cardiology.

Jaap I. van Waning, M.D., from Erasmus Medical Center in the Netherlands, and colleagues compared clinical features and major adverse cardiac events (MACE) during follow-up among 327 unrelated NCCM patients (adults and children) in three categories: with a genetic mutation (32 percent of patients); probably genetic, familial cardiomyopathy, without a mutation (16 percent); or sporadic, no family history, without a mutation (52 percent).

The researchers found that MYH7, MYBPC3, and TTN were the most common mutations (71 percent) found in genetic NCCM. For genetic patients, the risk of having reduced left ventricular systolic dysfunction was higher compared with the probably genetic and sporadic cases; the highest risk was seen in with multiple mutations and TTN mutations. Children more frequently had mutations, which were associated with MACE. Sporadic NCCM was more likely in adults. Patients with MYH7 mutations had low risk for MACE.

"NCCM is a heterogeneous condition, and genetic stratification has a role in ," the authors write. "Distinguishing genetic from nongenetic NCCM complements prediction of outcome and may lead to management and follow-up tailored to genetic status."

Explore further: Mutations common in pancreatic CA, history of other cancers

More information: Abstract/Full Text (subscription or payment may be required)
Editorial (subscription or payment may be required)

Related Stories

Mutations common in pancreatic CA, history of other cancers

February 7, 2018
(HealthDay)—A substantial proportion of individuals with pancreatic cancer and a history of other hereditary breast and ovarian cancer (HBOC)- or Lynch syndrome (LS)-related cancers have mutations in a prostate cancer susceptibility ...

Diagnostic mutations ID'd in chronic kidney disease patients

December 5, 2017
(HealthDay)—About one-quarter of adults with chronic kidney disease (CKD) of unknown cause or familial nephropathy or hypertension have diagnostic mutations, which can be identified with whole-exome sequencing (WES), according ...

Genetic predisposition to breast cancer due to non-brca mutations in ashkenazi Jewish women

July 20, 2017
Genetic mutations in BRCA1 and BRCA2 increase the risk of breast and ovarian cancer in Ashkenazi Jewish women. A new article published by JAMA Oncology examines the likelihood of carrying another cancer-predisposing mutation ...

Visit-to-visit SBP variability not linked to major cardiac events

June 23, 2015
(HealthDay)—Inadequate blood pressure (BP) control, but not visit-to-visit variability of systolic BP, is associated with major adverse cardiac events (MACE) among patients with hypertension and coronary artery disease ...

Internists play a vital role in identifying patients for genetic counseling for cancer risk

October 30, 2017
Patients at high risk for familial cancer, history of cancer at a young age, or history of multiple cancer occurrences may be referred to genetic counseling for genetic testing from the primary care office, which makes internists ...

A new genetic marker accounts for up to 1.4 percent of cases of hereditary colon cancer

October 11, 2017
Researchers from the Bellvitge Biomedical Research Institute (IDIBELL) have found a new genetic marker that would explain up to 1.4 percent of inherited colon cancer cases not related to mutations currently associated with ...

Recommended for you

Surgery involving ultrasound energy found to treat high blood pressure

May 23, 2018
An operation that targets the nerves connected to the kidney has been found to significantly reduce blood pressure in patients with hypertension, according to the results of a clinical trial led in the UK by Queen Mary University ...

To have or not to have... your left atrial appendage closed

May 22, 2018
Each year in the U.S., more than 300,000 people have heart surgery. To reduce risk of stroke for their patients, surgeons often will close the left atrial appendage, which is a small sac in the left side of the heart where ...

Natural antioxidant bilirubin may improve cardiovascular health

May 18, 2018
Bilirubin, a yellow-orange pigment, is formed after the breakdown of red blood cells and is eliminated by the liver. It's not only a sign of a bruise, it may provide cardiovascular benefits, according to a large-scale epidemiology ...

New algorithm more accurately predicts life expectancy after heart failure

May 17, 2018
A new algorithm developed by UCLA researchers more accurately predicts which people will survive heart failure, and for how long, whether or not they receive a heart transplant. The algorithm would allow doctors to make more ...

New genes found that determine how the heart responds to exercise

May 17, 2018
A new study by researchers at Queen Mary University of London and University College London (UCL) has discovered 30 new gene locations that determine how the heart responds to and recovers from exercise.

Novel therapy inhibits complement to preserve neurons and reduce inflammation after stroke

May 16, 2018
A team of investigators at the Medical University of South Carolina (MUSC) has developed a novel therapy for ischemic (clot-caused) stroke and has shown in a preclinical model that it locally inhibits complement at and around ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.