How often are heart diseases correctly diagnosed antemortem in children with fatal illnesses? A retrospective review of medical and autopsy recordsS Karande1, P Vaideeswar2, T More1
1 Department of Pediatrics, Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai, Maharashtra, India
2 Department of Pathology (Cardiovascular & Thoracic Division), Seth G.S. Medical College & K.E.M. Hospital, Parel, Mumbai, Maharashtra, India
Correspondence Address: Source of Support: None, Conflict of Interest: None DOI: 10.4103/jpgm.jpgm_608_23
Source of Support: None, Conflict of Interest: None
Keywords: Congenital heart defects, diagnostic errors, heart failure, medical audit, transthoracic echocardiography
Heart diseases comprise all pathological conditions, congenital or acquired, involving the heart including its structural and functional abnormalities, and range from asymptomatic to life-threatening. Congenital heart disease (CHD) occurs in around 8/1,000 live births., However, the prevalence of acquired heart disease in children, even in a developed country like United States, is largely unknown. Discrepancies between clinical and autopsy diagnoses persist despite progress in medical skills and technology. Hence, we conducted the present study to analyze the level of discrepancy between clinical and autopsy diagnosis of heart diseases in children.
After taking permission from our institutional ethics committee (EC/08/2021 dated 3rd April 2021), we extracted the autopsy records for patients aged 1 day to 12 years diagnosed with heart diseases (by gross and histopathological examination) over six years (January 2014 to December 2019). The medical records of these patients were then retrieved from the medical record department and reviewed to check whether a clinical diagnosis of heart disease was considered antemortem by the treating physician(s). After a thorough review of each patient's clinical data, autopsy diagnosis, and the cause of death in the autopsy report, the discrepancy was evaluated as per the Goldmann classification [Table S1][Additional file 1]. Data are presented as absolute numbers and percentages for discrete variables and as medians for continuous variables. The study protocol was registered with the clinical trials registry of India (CTRI/2021/05/033714) prospectively.
The total number of pediatric autopsies performed during the study period was 323, and in 118/323 (36.5%) cases a heart disease was confirmed. The median age of the 118 heart disease cases was 10 months (IQR 30); 62 males vs. 56 females (male: female ratio 1.1:1). A clinical diagnosis of heart disease was considered in 98/118 (83.1%) cases; and in 83/118 (70.3%) the recommended first-line of investigation, a transthoracic echocardiogram (TTE) had been done.
Our analyses revealed that in only 45/118 (38.1%) cases the clinical diagnosis of heart disease was also confirmed on autopsy to be directly related to death (Class V; no discrepancy) [Table S2][Additional file 2]. In all these 45 cases, a clinical diagnosis of heart disease was considered and a TTE had confirmed the diagnosis.
In 9/118 (7.6%) cases, the discrepancy was major (Class I) wherein if the correct diagnosis had been done clinically, it would have changed patient management and might have resulted in cure or prolonged survival [Table 1]. In 6 of these 9 Class I discrepancy cases, a clinical diagnosis of heart disease was considered and a TTE had been done [Table 1]. In eight of these nine Class I discrepancy cases, a clinical diagnosis of coarctation of aorta (CoA) was missed, although a TTE had been done in five of them [Table 1]. In one case a diagnosis of incomplete Kawasaki disease (KD) was missed as a single TTE had not detected any coronary artery abnormalities.
In 37/118 (31.4%) cases, the discrepancy was major (Class II) as a missed accurate clinical diagnosis of heart disease would have not changed therapy nor impacted survival [Table S3][Additional file 3]. Of these 24 cases were admitted in a critical condition and had received appropriate resuscitative management or treatment. CoA, anomalous origin of left coronary artery from pulmonary artery (ALCAPA), left ventricular non-compaction cardiomyopathy, supracardiac total anomalous pulmonary venous return (TAPVR), acute viral myocarditis and Ebstein anomaly were the prominent missed Class II diagnoses in the present study. Further clinical and autopsy details of the 37 cases are shown in [Table S3].
In 19/118 (16.1%) cases, the discrepancy was minor (Class III) and the missed accurate clinical diagnosis of heart disease was not directly related to death but related to the terminal disease process, namely, post-cardiac surgery in a majority of 13 cases. Further clinical and autopsy details of the 19 cases are shown in [Table S4][Additional file 4].
In 8/118 (6.8%) cases, the discrepancy was minor (Class IV) and the missed clinical diagnosis of heart disease was not directly related to death nor the terminal disease process. Further clinical and autopsy details of the 8 cases are shown in [Table S5][Additional file 5].
To our knowledge, no study has analyzed the level of discrepancy between clinical and autopsy diagnosis of heart disease in children. Our results reiterate that CoA and KD are Class I missed diagnosis, especially in infants and toddlers. Routine evaluation of lower limb pulses and the use of pulse oximeter to measure oxygen saturation (SpO2) and thorough TTE screening of the aortic arch are urgently needed to avoid oversight of CoA. Also, it is important to reiterate that to confirm diagnosis of KD, it might not be necessary to detect coronary artery dilation or aneurysms on TTE. Children suspected of having KD should be monitored with serial echocardiography in order to detect a possible enlargement of the coronary artery diameters, even if Z-scores are within the normal range.
There are limitations to the present study. It is a single-center study wherein documentation had been completed by different attending physicians and pathologists. Moreover, an autopsy is usually requested when the cause of death is uncertain. This might have led to a false high incidence of major diagnostic errors detected in the present study.
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Conflicts of interest
Dr Sunil Karande is the Editor of the Journal of Postgraduate Medicine.