Risk Assessment in HCM Children

A recent study published in the European Journal of Preventative Cardiology found that a 12-lead electrocardiogram (EKG) was not useful as a screening tool to determine which children were at increased risk of sudden death and therefore, a candidate to receive an implantable defibrillator. 

The full article can be found here.

Kids with HCM

A recent study published in the European Heart Journal using data collected from the SHaRe Registry found that while childhood onset HCM (15% of all HCM) is far less common than adult onset HCM, it is often more serious.

Children with HCM are more likely to have sarcomere mutations, have a higher risk of ventricular arrhythmias, and are twice as likely as adults to require advanced interventions like ventricular assist devices, heart transplant or other advanced heart failure therapies. 

When Do You Screen Your Kids For HCM?

A recent study published in Circulation suggests that clinical testing of kids who are first degree family members of HCM patients (i.e. siblings and children of those who have already been diagnosed with HCM) could be improved by starting testing at a younger age. And, genetic testing should further improve diagnosis and treatment for this group.

Continue reading “When Do You Screen Your Kids For HCM?”

Are HCM Kids With MYH7 Gene at Increased Risk?

A recent Canadian study found that children with HCM who carry a single mutation in the MYH7 gene or who have multiple HCM-causative genetic mutations are at increased risk of major adverse cardiac events when compared to children who carry a single mutation in another gene.

Of the 98 gene positive children in this study, those with a MYH7 mutation or those with multiple mutations were more likely to need a myectomy or an ICD or to experience a sudden cardiac arrest or a heart transplant when compared to children with other HCM causative mutations.

The article also suggests that current screening protocols which recommend clinical and genetic screening for HCM beginning at age 12 may be insufficient.

Positive HCM Outlook for Gene + Kids

A study at the University of Amsterdam recently published in the Journal of Pediatrics found that most kids carrying a gene for HCM will not go on to develop HCM during their childhood.  

The same study also found that gene positive children without overt signs of the disease are at relatively low risk for cardiac events.

The study included 119 children, positive for at least one HCM gene, with a median age of 12.1 years.  8 of these children (6.7%) received a HCM diagnosis within the time span of the study [which varied from 3.1 to 10.7 years].  1 of the 8 diagnosed children suffered a cardiac event which necessitated implantation of an implantable cardioverter defibrillator or ICD.

The study did caution, however, that because severe hypertrophy and cardiac events may develop, it is important to refine risk stratification and long term follow up procedures for gene positive kids.

Severe Pediatric Cardiomyopathy Causing Gene Identified

 

 

A recent article in Science Daily discussed findings of geneticists in the Netherlands which revealed the existence of  a mutation in the gene alpha-kinase 3 (ALPK3) which, if inherited from both parents, may cause severe cardiomyopathy in children.

Cardiomyopathy U.K. recently featured this story on their website.

See here for study.