Study shows some heart patients implanted with a VAD have better survival and are more likely to receive a heart transplant – News

A UAB study including more than 20,000 recipients of ventricular assist devices showed that patients diagnosed with familial dilated cardiomyopathy had better clinical outcomes compared to other DCM diagnoses.

Naman Shetty, MD, researcher in the Division of Cardiovascular Diseases.
Photography: Carolyn Walsh
Researchers at the University of Alabama at Birmingham Marnix E. Heersink School of Medicine published a study in Circulation showing that among recipients of a ventricular assist device, patients with a particular form of cardiomyopathy dilated cardiomyopathy known as familial dilated cardiomyopathy have better clinical outcomes compared to other forms of the disease.

Familial dilated cardiomyopathy is a genetic form of heart disease that occurs when the heart muscle in at least one chamber of the heart becomes thinner and weaker, making it harder for the heart to pump blood as efficiently as possible. habit. Over time, this condition can lead to heart failure.

“Dilated cardiomyopathy affects about one in 250 people,” said Naman Shetty, MD, a researcher in the Division of Cardiovascular Diseases and the paper’s first author. “Of these, familial DCM accounts for approximately half of DCM cases. The recent increase in the widespread availability of genetic testing has led to increased awareness of familial DCM in the community.

Shetty says many patients with DCM develop end-stage heart failure requiring a specialized device called a ventricular assist device, or VAD, to help transfer blood from the heart to the rest of the body. Prior to this study, Shetty says, it was unclear what happened to familial DCM patients receiving VAD compared to other causes of DCM.

The research team analyzed data from more than 20,000 VAD recipients from the Interagency Registry for Mechanically Assisted Circulatory Support to characterize and assess clinical outcomes in familial DCM patients. Extensive follow-up of VAD recipients as part of INTERMACS allowed researchers to assess and compare the outcomes of familial DCM patients with other DCM diagnoses. They found that family recipients of DCM VAD were younger and had an approximately 30% lower risk of death and a 50% higher chance of receiving a heart transplant. Additionally, these patients also had a lower rate of adverse events after receiving VAD compared to other DCM diagnoses.

Arora insidePankaj Arora, MD, director of the UAB Cardiogenomics Clinic.“These findings have major implications for these patients with this inherited heart disease,” said Pankaj Arora, MD, lead author of the paper and director of the UAB Cardiovascular Institute’s Cardiogenomics Clinic. “If patients with familial DCM receive VAD, our research shows that they have favorable outcomes, and many of them may eventually get a heart transplant compared to other causes of DCM.”

Researchers say familial DCM can be caused by a wide range of inherited genetic variations. Arora says diagnosing familial DCM can be difficult because individuals with this genetic variation have varying degrees of severity and can skip generations.

“Some patients with familial DCM may not develop any symptoms; but they can pass on the pathogenic genetic variations to their offspring, which could lead to this disease,” Arora said. “We also found that certain genetic variations that can lead to this disease are more common in the black population. By identifying these genetic changes in the patient and their family members, we have the potential to reduce racial disparities through earlier access to healthcare for this disease.

To help treat this condition, UAB’s Cardiogenomic Medicine Clinic provides free genetic testing to family members once healthcare providers identify a pathogenic change in one of the genes that can cause DCM. .

The UAB Cardiogenomics Clinic uses a patient’s genetic history to help develop a personalized cardiovascular treatment plan based on their genetic results. The clinic – one of only two of its kind in the Southeast – offers a wide range of cardiology healthcare services for people of all ages and those with all types of heart disease in the Southeast. the United States. Make an appointment today by visiting or by calling 205-975-2313.