Tag: genotype

LGE Seen on MRI Top Risk Factor for HCM

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To date, risk assessment in patients with hypertrophic cardiomyopathy (HCM) has largely focused on whether there is a need for an implantable defibrillator by evaluating an individual patient’s short term risk of sudden death, but has not looked at the long term risks of heart failure and other adverse outcomes over time.

A recent retrospective study by European HCM specialists asked the question of whether the addition of advanced imaging could assist in pinpointing patients at high risk of heart failure and/or other serious HCM complications over time. 

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One Size Does NOT Fit All: Treatments Differ by Stage in HCM

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There are distinct stages of HCM and treatments will vary according to the stage. Therefore, it is important, according to a recent article in the Netherlands Heart Journal, for patients to seek treatment from teams experienced in the the treatment of HCM.  These professionals are able to recognize transitions in the course of the disease as they occur, and then implement necessary changes in treatment.

In this thorough overview of HCM and its treatment, Dr. Iacopo Olivotto and his colleagues in the Netherlands observe that HCM is seen infrequently by community cardiologists (as compared to more common heart conditions like coronary artery disease). Hence, one of the major difficulties in HCM practice has been identification of patients at highest risk.

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What Are the First Signs of HCM?

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A study published today by Dr. Carolyn Ho, of Boston’s Brigham and Women’s Hospital, and colleagues, including Australia’s Christopher Semsarian, found that there are several factors which appear to stand out in young people who later go on to develop HCM.

The children/adolescents/young adults who participated in the study all carried at least one gene associated with HCM, and were members of families with strong histories of HCM. None of the 38 young people had clinical manifestations of HCM at the beginning of the study period, while 4 went on to develop HCM by the end of the study.  In collecting the data analyzed in the study, the test results of the 4 individuals with HCM were compared to the 34 individuals that did not have HCM at the end of the study.

The factors associated with the development of overt HCM, as identified by the researchers, were: abnormal left ventricular relaxation and higher ejection fraction, EKG changes, longer mitral valve leaflets, higher NT-proBNP concentrations and troponin values.

In the conclusion, the authors acknowledged the need for further research and investigation in order to better understand the natural course and evolution of the disease.

Lack of Diversity in Gene Samples May Cause False HCM Diagnosis

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A recent study published in The New England Journal of Medicine concluded that individuals of African descent found to carry genes previously identified with HCM did not, in fact, have the disease.  Thus, the article highlighted the importance of including diverse populations when sequencing genomes for genetic diseases so as to avoid false diagnoses.

The New York Times also picked up this story, focusing its article on the negative repercussions that can result from a false positive genetic test for HCM.

In connection with the findings, National Public Radio interviewed three people, including Dr. Isaac Kohane, one of the researchers who published the findings of the lack of diversity in the HCM genetic panel, as well as New York City HCM patient Tarika Mingo.  Finally, NPR spoke to veteran HCM expert Dr. Barry Maron, who noted a potential concern that athletes may have been erroneously disqualified from sports participation solely on the basis of false positive genetic testing results.

See also this story in the Wall Street Journal.

HCM GENOTYPE DOESN’T INFLUENCE ATRIAL FIBRILLATION

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openclipart.org 6/25/16

 

In the April edition of the American Journal of Cardiology, Italian HCM experts published their findings which indicate that  an individual patient’s HCM causing gene does not influence chances of developing atrial fibrillation and shouldn’t influence the management strategies for the condition.