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Delayed recognition of haemodynamically relevant congenital heart disease
1Department of Paediatric Cardiology, University Children's Hospital, 3010 Berne, Switzerland. Jean.Pierre.Pfammatter@insel.ch
Insights
Delayed diagnosis of congenital heart defects affects 10% of pediatric patients. Early recognition is crucial, as other cardiac findings besides murmurs were present in delayed cases, indicating missed diagnostic opportunities.
Area of Science:
- Pediatric Cardiology
- Congenital Heart Disease Diagnosis
- Medical Outcomes
Background:
- Delayed recognition of congenital heart defects (CHDs) can negatively impact long-term outcomes in children.
- Accurate and timely diagnosis is essential for effective management of pediatric heart conditions.
Purpose of the Study:
- To determine the proportion of pediatric patients with delayed diagnosis of CHD within a large treatment cohort.
- To identify clinical indicators present in cases of delayed CHD diagnosis.
Main Methods:
- A prospective study was conducted over three years.
- Evaluated 323 pediatric patients requiring surgical or catheter intervention for CHD.
- Examined patients with delayed diagnosis for specific clinical cardiac findings beyond systolic murmurs.
Main Results:
- 10% (32 out of 323) of pediatric patients experienced delayed diagnosis of their heart defects.
- The rate of delayed diagnosis was similar for both cyanotic (7/72) and acyanotic (25/251) heart defects.
- Seven patients with delayed diagnosis developed complications, but no mortality was linked to the delay.
Conclusions:
- A significant percentage of pediatric patients undergoing intervention for heart disease were diagnosed late.
- Clinical findings other than systolic murmurs were consistently observed in patients with delayed diagnoses, suggesting potential for earlier detection.
Unlabelled:
Delayed recognition of congenital heart defects may have a serious impact on the long-term outcome of the children affected. It was the aim of the present study, to evaluate the proportion of children with delayed cardiac diagnosis out of a large cohort of consecutive paediatric patients requiring treatment for congenital heart disease. A prospective study was performed over a 3-year period. Of all 323 paediatric patients requiring surgical (n = 291) or catheter interventional (n = 32) treatment for congenital heart disease, patients with delayed diagnosis of their cardiac defects were observed and especially examined for the presence of clinical cardiac findings other than systolic murmurs, not recognized as such prior to referral. Of all the patients, 32 (10%) had delayed diagnosis of heart defects. Surprisingly, the proportion of late diagnoses was not different in the group of patients with cyanotic heart disease where 7/72 patients were referred with delay, compared to 25 delayed referrals among 251 children with acyanotic heart defects. Of the 32 patients with delayed diagnosis, 7 had complications due to delayed referral, but there was no mortality associated with late diagnosis.
Conclusion:
A substantial proportion of all paediatric patients requiring intervention for heart disease were diagnosed with relevant delay. In all study patients with late diagnosis, clinical cardiac findings other than systolic murmurs were present that should have alerted the physician on the possible presence of underlying heart disease.