Mousumi Moulik, MBBS

Director, Pediatric Cardiovasular Genetics Clinic

Early in her medical career, Mousumi Moulik, MD came face to face with the toll that inherited heart diseases can take on patients and their families.

“I had a patient ­– a teenage girl – who had had a cardiac arrest,” she recalls.

The girl’s life was saved because someone who was with her had successfully performed cardiopulmonary resuscitation.

The girl was diagnosed with long QT syndrome (LQTS), a condition that causes the heart to beat irregularly and can result in fatal arrhythmias. She was also found to have inherited a faulty gene that causes LQTS. After receiving an implantable defibrillator, which detects an erratic heartbeat and shocks the heart back to normal rhythm, she could look forward to living a normal lifespan.

A diagnosis of a serious inherited heart condition often comes without any warning signs, says Dr. Moulik, who directs the Pediatric Cardiovascular Genetics Clinic at UPMC Children’s Hospital of Pittsburgh.

“Many of these disorders are completely asymptomatic in the early stages, so a child can seem perfectly healthy” until he or she suffers a cardiac arrest or suddenly develops symptoms of severe heart failure.

In addition to LQTS, other heart conditions that may be inherited include cardiomyopathy (chronic disease of the heart muscle that prevents the heart from efficiently pumping blood to the rest of the body, causing heart failure) and familial hypercholesterolemia (extremely high cholesterol levels that can lead to blocked arteries, heart attacks, and strokes at an early age).

“When an individual in a family is diagnosed with one of these diseases, it’s important to perform genetic testing to determine if a faulty gene is the cause,” explains Dr. Moulik. “Once we have identified the faulty gene, the next steps are to screen the rest of the family to identify others who are also at risk and determine the pattern of disease inheritance in the family.”

Dr. Moulik, who joined UPMC Children’s Hospital in 2017, is also an assistant professor of pediatric cardiology at the University of Pittsburgh School of Medicine. After graduating from medical school in her native India, she completed an internship at Michael Reese Medical Center of the University of Illinois in Chicago, followed by a residency in pediatrics at Baylor College of Medicine in Houston and a fellowship in pediatric cardiology at Baylor and Texas Children’s Hospital. From 2007 to 2017 she was an assistant professor of pediatric cardiology at the University of Texas McGovern School of Medicine, also in Houston. She is board certified in both pediatrics and pediatric cardiology.

The Pediatric Cardiovascular Genetics Clinic is designed to be family centric, she says, recognizing that the identification of an inherited heart disorder in one family member can be a traumatic experience for the entire family.

“When a child is diagnosed with – for example – cardiomyopathy, it often turns out that in either the mother’s or the father’s family there were several close relatives who died in their 30s or 40s of what was deemed to be a heart attack,” says Dr. Moulik. “These individuals most likely had inherited the same faulty gene and died of complications of cardiomyopathy that was never diagnosed.”

In addition to partnering with the Heart Institute at UPMC Children’s to provide a full range of diagnostic, treatment, and preventive services for heart disease, the clinic offers genetic and psychological counseling to help families come to terms with the knowledge that their genes harbor an inherited disease.

As well as seeing patients and directing the cardiovascular genetics clinic, Dr. Moulik directs a research lab at UPMC Children’s, where she and her colleagues are working to unravel the genetics of cardiomyopathy and understand how the disease originates and develops.

Dr. Moulik also works with the Center for Rare Disease Therapy at UPMC Children’s to diagnose and treat patients with rare inherited heart conditions. She appreciates the Center’s multidisciplinary and family-centric approach to care.

“I have been impressed by the willingness of clinicians from many different specialties to work together as a team for the benefit of the patient,” she says.