U-M doctors lead research studies on rare heart diseases

February 28 is Rare Disease Day

researcher blog

Researchers at University of Michigan are leading the way in identifying and developing treatment for rare cardiac diseases.

Rare diseases affect almost 25 million Americans. Worldwide, there are more than 6,000 rare diseases. The University of Michigan Frankel Cardiovascular Center is a leader in treating many rare heart diseases. As an academic hospital, U-M researchers are at the forefront of studies aimed at identifying and treating unique cardiac diseases.

According to Dr. Santhi Ganesh, a specialist in cardiology and genetics at the University of Michigan, “Our doctors take a collaborative, multidisciplinary approach to research projects as we share knowledge.”

Dr. Ganesh believes that more rare diseases are being identified because of advancements in the study of genetics and new technologies. “It’s important that we continue to fund research into the study of rare diseases. We need to keep up in this important area.”

Although there are many others, here are just some of the studies U-M cardiologists are currently involved with:


Amyloidosis is a disorder caused by deposits of an abnormal protein (amyloid) in the heart tissue, making it hard for the heart to work properly.

  • Study Title: ATTR-ACT Study – ATTR Amyloid Cardiomyopathy Tafamidis Study
  • Principal Investigator: Dr. Scott Hummel

Fibromuscular Dysplasia and Arterial Aneurysms

Fibromuscular dysplasia is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected.

Pulmonary Hypertension

Pulmonary hypertension is high blood pressure in the pulmonary arteries in the lungs.

Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy is an abnormal thickening of the heart muscle.

Marfan’s Syndrome

Marfan’s syndrome is a connective tissue disorder that can affect the aorta. Connective tissue is found throughout the body and holds the body together, supporting muscles, ligaments and skin, while also helping to control the way the body grows.

Take the next steps:

Frankel-informal-vertical-sigThe University of Michigan Samuel and Jean Frankel Cardiovascular Center is a top-ranked heart and heart surgery program among Michigan hospitals. To learn more, visit our website at umcvc.org.