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The Impact of Integration of a Genetic Clinic Into a Pediatric Cardiac Unit
Ayman Elfky1, Yasser A Bhat2, Abdulrahman Almesned2
1Pediatric Cardiology, Prince Sultan Cardiac Center, Al Hasa, SAU.
Insights
Genetic assessment is valuable for diagnosing congenital heart disease (CHD) and pediatric cardiomyopathies (CMs). A dedicated genetic clinic aids in understanding disease, family education, and genetic counseling for these complex conditions.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Genetic and environmental factors contribute to 20-30% of congenital heart disease (CHD) cases.
- The genetic basis of childhood cardiomyopathies (CMs) remains incompletely understood.
- Known genetic causes include aneuploidy, single gene defects, copy number variations, and inherited patterns.
Purpose of the Study:
- To evaluate the utility of genetic assessment in diagnosing pediatric patients with CHD and CMs.
- To highlight the role of a genetic clinic in family counseling for these conditions.
- To inform the development of genetic investigation protocols in pediatric cardiology.
Main Methods:
- Retrospective analysis of 285 patients under 18 years old evaluated between December 2010 and February 2019.
- Inclusion criteria encompassed syndromic CHD, CHD with extracardiac anomalies or developmental delay, hypertrophic and dilated CMs, aortic root/ascending aorta dilation, family history of CHD, suspected channelopathies, and interrupted aortic arch.
- Patients were referred to a cardiogenetics clinic within a pediatric cardiology department.
Main Results:
- The most frequent referral reason was CM (46.3%), specifically hypertrophic CM (24%) and dilated CM (20%).
- Genetic testing yielded positive results in 26.7% of patients.
- The most common genetic finding was the *ELAC2* gene mutation, associated with familial infantile hypertrophic CM, identified in 19 cases (23.5%).
Conclusions:
- Establishing a genetic clinic within pediatric cardiology units is beneficial.
- Genetic clinics improve understanding of CHD pathophysiology, enhance family education, and facilitate genetic counseling.
- Standardized protocols are needed to define which congenital heart conditions warrant genetic investigation.
Background:
Previously published studies suggest that genetic or environmental causes can be observed in 20-30% of congenital heart disease (CHD) patients, which include aneuploidy, single gene defects, pathological copy number variations, and de novo autosomal dominant and recessive inheritance. Moreover, the genetic background of childhood cardiomyopathies (CMs) has not been elucidated well.
Objective:
The study highlights the value of genetic assessment in diagnosing and family counseling for CHD and pediatric CM patients referred to the genetic clinic in a pediatric cardiology department.
Methods:
The study involved patients less than 18 years of age attending the cardiogenetic clinic in the pediatric cardiology department between December 2010 and February 2019. The following patient categories who had genetic evaluation were included: CHD in the presence of a syndromic phenotype, patients with CHD having extracardiac congenital anomalies or delayed development, hypertrophic and dilated CM patients, patients with dilated aortic root and ascending aorta, significant CHD in siblings or first-degree relatives, suspected channelopathies; and interrupted aortic arch abnormalities.
Results:
A total of 285 patients were evaluated in the cardiogenetic clinic. The mean age was 20.2 months, with a range of 0-168. Females and males constituted 153 (53.7%) and 132 (46.3%), respectively. The most common cause of referral to the genetic clinic was the presence of CM (N=134 (46.3%)): hypertrophic CM in 24% and dilated CM in 20% of cases. Seventy-six patients (26.7%) had positive genetic results. The most common genetic abnormality was familial infantile hypertrophic CM-causing gene ELAC2 in 19 (23.5%) cases.
Conclusion:
It may be beneficial for any pediatric cardiology unit to provide an established genetic clinic. Using a genetic clinic will enhance understanding of CHD pathophysiology, family education, and genetic counseling. Agreement on a well-written protocol and the way forward to specify what congenital heart conditions require genetic investigation should be clarified.
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