People with ventricular septal defect (VSD), the most common congenital heart disease, die much earlier than researchers and doctors had thought. A researcher says that these people have previously unrecognised excess mortality, and more research is needed to detect early signs that something is wrong, thereby enabling early intervention.
For many years, researchers and doctors assumed that people with VSD have roughly the same life expectancy as other people. However, new research refutes this.
The researchers investigated the life expectancy of people with VSD, and the results surprisingly show considerably shorter life expectancy.
“VSD is usually considered a simple congenital heart disease if it is detected and correctly treated in childhood, and we therefore also thought that most people with VSD have low rates of complications and the same life expectancy as everyone else. We were therefore surprised to find that their life expectancy is so much lower,” explains a researcher involved in the study, Filip Eckerström, MD, PhD, Rigshospitalet, Copenhagen and Sahlgrenska University Hospital, Göteborg, Sweden.
The research has been published in the European Heart Journal.
Hole in the heart wall impairs blood circulation
VSD is a congenital heart disease in which there is a hole in the wall separating the pumping chambers (ventricles) of the heart.
VSD changes how blood flows through the heart and lungs, resulting in a pressure and volume overload of the lung circulation.
A small hole may cause no problems, but a large hole requires surgery early in life to prevent serious complications such as heart failure and early death.
“VSD is the most common congenital heart disease, and we usually identify cases of VSD before or just after birth, by recognising a murmur or by fetal echocardiography. Therefore, detecting VSD later in life is somewhat rare. Doctors today are also very good at providing optimal treatment, including surgery if necessary, and the long-term outcome is unproblematic in the vast majority of cases,” says Filip Eckerström.
40 years of data
The researchers investigated the life expectancy of a nationwide cohort of people with VSD in Denmark compared with that of the general population.
To achieve this, the researchers retrieved data from the Danish Civil Registration System and nationwide medical registries, including the Danish National Patient Registry and the Danish Register of Causes of Death.
The researchers extracted data for all cases of VSD diagnosed from 1977 to 2018 and compared the life expectancy of 9,136 people with VSD with that of an age- and sex-matched control group of 90,823 people without congenital heart disease.
Life expectancy reduced by 10 years
The results show that people born with VSD had 10 years lower life expectancy than the general population.
Of the people with VSD, 85% survive to 60 years versus 94% for the general population. The differences in the percentages surviving to 80 years were further increased.
The data also show that the differences in survival between people with VSD and the general population begin to increase drastically after about 40 years of age.
Filip Eckerström says that the much lower life expectancy of people with VSD surprised the researchers.
“However, there is a historical context, and today we have significantly improved VSD detection and treatment. Some people may not have received optimal treatment in the past, and this may account for their lower survival rates today,” explains Filip Eckerström.
His theory is supported by the fact that people diagnosed with VSD after 1990 have improved survival compared with people diagnosed with VSD before 1990. The survival advantage applies to both those who have had surgery for VSD and those who still have a small unrepaired VSD.
“We have improved VSD detection and subsequent treatment around the time of diagnosis in childhood and the management of VSD-related complications later in life, but we speculate whether the excess mortality is solely related to disturbances in blood circulation or whether having VSD involves some still unknown effects involving other organ systems,” says Filip Eckerström.
Monitoring people with VSD more closely
Filip Eckerström has several take-home messages.
First, people with VSD generally do very well, both those who have received surgery and those who have been managed conservatively, but there is hitherto uncontemplated excess mortality, especially among those who have not had surgery.
“Our data restrict us from delineating whether people with a small unrepaired VSD would have benefitted from having the defect closed in terms of improved survival,” says Filip Eckerström.
He elaborates that the study suggests that VSD should not be considered a simple congenital heart disease but that instead the focus on regular follow-up should be increased, possibly from about 40 years of age and onwards, to detect early signs of VSD-related complications, such as cardiac arrhythmia and heart failure.
“The long-term outcome of these people is not uncomplicated, and their survival is lower than we had thought. Although VSD is simple in anatomy and to treat, this study and another of our recently published studies show that, when they reach a higher age, approximately 40 years, they develop more cardiac complications than the general population, which may fully or partly explain their increased risk of dying. More research is needed into how we ensure in the future that being born with VSD does not necessarily mean a shorter life,” concludes Filip Eckerström.
