HCM Research

The Relation of Cardiovascular Disease and HCM in the Aging Process.

Dr. Mathew Maurer has received funding from the National Institute on Aging to evaluate age related changes in cardiovascular physiology. His goal is to understand what leads to the higher prevalence and incidence of cardiovascular disease in older individuals. His work has focused on the following cardiovascular syndromes —

  1. Syncope (fainting), falls and their relationship to disordered blood pressure regulation and
  2. Heart failure in the setting of a normal ejection fraction,
  3. Hypertrophic Cardiomyopathy and
  4. Cardiac amyloidosis.

This research may help us understand the mechanism that leads to manifestations of HCM in the elderly.

Infantile Cardiomyopathy: Genetic Traits

In 2011, Wendy Chung, MD, PhD received a $100,000 grant from the Children's Cardiomyopathy Foundation to identify new genes for infantile cardiomyopathy. When dealing with infants with cardiomyopathy, it is particularly challenging to determine the cause of cardiomyopathy in a family. The reason: less is known about the cause of cardiomyopathy in infants compared to older children and adults. Identifying the cause of cardiomyopathy is particularly important for infants since their prognosis is on average worse and because families are often considering having additional children and would like to better understand the risk of having another similarly affected child. This CCF sponsored multi-center study will be looking at infants with cardiomyopathy using the most advanced genetic methods including exome sequencingto analyze all 20,000 of our genes.

We will focus on families with more than one affected infant without an identifiable genetic cause since these families are most likely to have an underlying novel genetic basis. Identification of new genes for infantile cardiomyopathy should help us to establish new targets for treatment, clarify the prognosis for families, and provide reproductive options for families who hope to have healthy children in the future.

Stem-Cell Research: Understanding the Evolution of HCM

Jonathan Lu, MD, PhD, has received grants from the Paul Marks Scholars Fund, Legato Gender-Specific Medicine, and New York State (NYSTEM) to study the molecular mechanisms and potential treatment for genetic arrhythmias. Dr. Lu's laboratory will utilize a new form of personalized stem cells that can be derived from a patient's skin sample in order to develop human cardiomyocyte models of genetic heart disease, including HCM.

While researchers know a good deal about the genes that are defective in HCM patients, we know little about the downstream events that lead to hypertrophy of the heart muscle and the predisposition for sudden cardiac death. This is largely due to the lack of access to renewable human cardiomyocytes from patients with HCM. A recent seminal discovery has made it possible to reprogram patient skin cells into stem cells. Subsequently, the stem cells can be directed to become cardiomyocytes.

If skin samples are taken from patients with HCM, this paradigm will permit us to directly study the patient's heart cells in the laboratory. These studies may lead to new insights in the pathogenesis of HCM at the cellular and molecular level, potentially resulting in novel treatment for this debilitating disease.