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 Table of Contents  
Year : 2022  |  Volume : 10  |  Issue : 1  |  Page : 51-55

Unrepaired congenital heart diseases in adults – Detection rate and diagnostic errors

1 Department of Pediatric Cardiology, NSCB Medical College, Jabalpur, Madhya Pradesh, India
2 Department of Neonatology, NSCB Medical College, Jabalpur, Madhya Pradesh, India
3 Department of Cardiology, NSCB Medical College, Jabalpur, Madhya Pradesh, India
4 Senior Resident, Department of Pediatric Cardiology, Narayana Hrudayala, Bengaluru, Karnataka, India

Date of Submission01-Dec-2021
Date of Decision21-Dec-2021
Date of Acceptance27-Dec-2021
Date of Web Publication13-Apr-2022

Correspondence Address:
Dr. Pradeep Kumar Jain
Department of Paediatric Cardiology, Super Speciality Hospital, NSCB Medical College, Jabalpur - 482 003, Madhya Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/heartindia.heartindia_100_21

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Context: There are very few data about the unrepaired congenital heart disease (CHD) in adults. There are high chances of errors in diagnosis of CHD in adult population due to various reasons. If proper diagnosis is made, many of these CHDs are amenable to surgery leading to improved quality of life.
Aims: Primary objective of the study was to know the detection rate of unrepaired CHD in adults. We have also reported common errors done while making the diagnosis of CHD in adults.
Subjects and Methods: This was a retrospective observational study conducted from March 2020 to September 2021. Patients more than 18 years old who came for transthoracic echocardiogram (TTE) for any reason were included, and the detection rate of unrepaired CHD was calculated. Simultaneously, we have also checked for any errors in reports done outside our center and classified them based on their effect on management.
Results: During the study period, 6675 TTEs were done in the study population, out of which 89 (1.33%) were detected with unrepaired CHD. Acyanotic CHD was detected in 81 (91%), whereas the rest 8 (9%) had cyanotic CHD. Forty-one patients had echocardiography report done outside, out of which 25 (61%) had discrepancies. Discrepancies were more in complex CHD.
Conclusions: Cardiologists or echocardiographers should follow systematic approach and place special emphasis on identifying congenital heart diseases. Many potential lesions are amenable to surgery and near-complete correction leading to improved duration and quality of life.

Keywords: Adult, congenital heart disease, echocardiography, errors

How to cite this article:
Jain PK, Athwani VK, Kinare AB, Kanaparthi S, Mishra VA, Siddiqui S. Unrepaired congenital heart diseases in adults – Detection rate and diagnostic errors. Heart India 2022;10:51-5

How to cite this URL:
Jain PK, Athwani VK, Kinare AB, Kanaparthi S, Mishra VA, Siddiqui S. Unrepaired congenital heart diseases in adults – Detection rate and diagnostic errors. Heart India [serial online] 2022 [cited 2022 Dec 2];10:51-5. Available from: https://www.heartindia.net/text.asp?2022/10/1/51/343063

  Introduction Top

Congenital heart disease (CHD) is a common term used for any kind of heart disease present since birth. Recently, the live birth incidence of CHD has been reported to be <1% in many studies.[1],[2],[3] There are many data related to repaired CHD in adult patients from different parts of the world[4],[5] but very few about the unrepaired CHD in adults.[6] Among all adult patients with unrepaired CHD, left-to-right shunts such as atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA) are more common, whereas complex CHD is less common.[6],[7] Considering CHD being uncommon in adult age group and sharing symptoms with other common cardiac or respiratory conditions in adults, there are high chances of underdiagnosis. Murmur and cyanosis can be easily detected on clinical examination and are very significant clues toward the diagnosis of CHD in adults. Still, there are high chances of misdiagnosis due to lack of access to specialized health care. The data in the Indian subcontinent are lacking for unrepaired CHD in adults. This may be because of less expertise, poor orientation, and increased burden on cases. Hence, we have planned this study with the aim to detect the rate of unrepaired CHD in adults and to find out the diagnostic errors in echocardiogram done at nontertiary center.

  Subjects and Methods Top

This retrospective observational study was carried out in the department of cardiology at a tertiary care center in Central India from March 2020 to September 2021. Patients more than 18 years old who came for echocardiography for various reasons were included. Patients of repaired CHD, uncomplicated bicuspid aortic valve (BAV), and patent foramen ovale (PFO) were excluded. Informed consent was taken from all participants before doing echocardiography as a routine. Ethical approval was taken from the institutional committee of ethics.

The aim of the study was to detect unrepaired CHD in adults. The primary objective was to report the detection rate of unrepaired CHD in adults. The secondary objective was to compare any discrepancy in diagnosis of CHD on echocardiogram report done other than our center. Transthoracic echocardiogram (TTE) was performed by pediatric cardiologist also trained in adult echocardiogram using GE Vivid E95 Echo Machine with M5Sc adult probe. Demographic, clinical, relevant laboratory details, electrocardiogram, and chest radiograph were recorded for patients who were diagnosed with CHD. Wherever needed, findings of echocardiogram were confirmed with cardiac catheterization and cardiac imaging. Hypertension was defined as a condition wherein a person had elevated blood pressure (systolic pressure ≥130 mmHg or diastolic pressure ≥80 mmHg).[8] Detection rate is defined as the proportion of unrepaired CHD diagnosed in our study population.

Patients diagnosed with CHD who came with echocardiography report done outside were matched for discrepancy, if any and categorized as congruent if no discrepancy found; as discrepant (Minor 2A) if discrepancy not affecting management and as discrepant (Major 2B) if discrepancy affecting management.[9]

Statistical analysis

The data were collected and compiled into MS Excel spreadsheets. Continuous variables were summarized as mean and standard deviation, and categorical variables were summarized as proportion (%).

  Results Top

During the study period, 6675 TTEs were done in the study population, out of which 89 (1.33%) were detected with unrepaired CHD. The mean age of the patients was 35.9 ± 16.1 years. Male: Female ratio of unrepaired CHD patients was 39:50 (0.8:1). The major classification of CHD in our patients was summarized in [Table 1]. Out of 89 unrepaired CHD patients, 81 (91%) were acyanotic and eight (9%) were cyanotic CHD. Oldest patient (74 years) with unrepaired CHD was diagnosed with congenitally corrected transposition of great arteries (CCTGA). ASD was the most common acyanotic CHD followed by VSD and PDA. One patient had Lutembacher's syndrome (ASD with acquired mitral stenosis). Eisenmenger syndrome developed in eight acyanotic CHD patients (ASD-4, VSD-2, and PDA-2). Oldest patient (62 years) who developed Eisenmenger syndrome had large ASD and youngest patient (19 years) with Eisenmenger syndrome had large PDA. Complicated BAV with aortic stenosis (AS) was the most common obstructive lesion in our study group. The most common cyanotic CHD was tetralogy of Fallot (TOF). Rare CHDs detected in our patients were transitional atrio-ventricular-septal defect, arrhythmogenic right ventricular dysplasia, absent left pulmonary artery, aortopulmonary (AP) window, idiopathic dilatation of pulmonary artery, and classical mirror-image dextrocardia.
Table 1: Major classification of congenital heart disease and types of congenital heart disease

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Out of 89 patients, 41 had echocardiography report done outside before reporting our center. In this, 16 (39%) reports were congruent (no discrepancy), whereas 25 (61%) reports had discrepancies. Based on the categorization of discrepant reports, nine (36%) were categorized under 2A and the rest of 16 (64%) under 2B [Table 2]. Discrepancies in reports were less in patients with low complexity lesions such as ASD or VSD while major discrepancies were found in complex CHD [Table 3].
Table 2: Category of discrepant reports as major and minor

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Table 3: Major discrepancy in echocardiogram done outside

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  Discussion Top

Our study is of its first kind from India reporting adults living with unrepaired CHD. In present study, the detection rate of unrepaired CHD in adults is 1.33%. There are many reports related to adults living with repaired CHD from different parts of the world[4],[5] but very few for unrepaired CHD. Kwag et al.[10] reported detection rate of 1.03% in a population-based study in Korea, whereas Marelli et al.[3] found unrepaired CHD in 4.09 per 1000 adults. Sahasakul et al.[11] in 1990, Bunsiricomchai and Jakrapanichakul[12] in 2001, and Ratanasit et al.[6] in 2015 had reported detection rate of adult CHD ranging from 4% to 7.3% in hospital setting in Bangkok, Thailand.

Our study showed a female preponderance (56.2%) which is similar to previous reports by Marelli et al.[3] (57%) and Bunsiricomchai and Jakrapanichakul[12] (65.5%). However, few other studies did not show any gender difference as per prevalence.[7],[13] Pattern of CHD was the same in our study population as seen in previous studies.[6],[7] CHDs as ASD, VSD, PDA, and TOF were found in decreasing order. In our study, complicated BAV with AS and/or aortic regurgitation was the fifth most common CHD, unlike other studies where isolated pulmonary stenosis was the fifth most prevalent lesion.[6],[7]

In this study, we have seen discrepancy in 61% (25/41) of cases of adult CHD, whereas Stanger et al.[14] reported the discrepancy rate of 65.1%, and Hurwitz and Caldwell[15] found discrepancy in 48% of cases when echocardiogram was done by adult cardiologist in pediatric CHD. We did not find any study in adult CHD for discrepancy, to compare with our study.

ASD was the most common unrepaired CHD (40.4%) in concordance with the other reports where Ratanasit et al.[6] found ASD in 43%, whereas Giannakoulas et al.[4] seen in 33%. Most of the ASD patients are asymptomatic with insignificant findings in early age and usually develop symptoms related to volume overload of the right atrium (RA) and ventricle and/or increased pulmonary pressure in adulthood, which leads to it having the highest incidence among adult CHD cases.[16],[17] Two patients in their 30's with moderate size ASD had severe pulmonary hypertension. Evaluation of pulmonary hypertension in these two patients was done by cardiac catheterization and imaging both, but we did not find any cause. As per natural history, patients with large ASD develop eisenmenger syndrome in the fourth decade of life,[14] and we should rule out other causes of pulmonary hypertension if ASD patients develop Eisenmenger syndrome in early age, especially if the size of ASD is not large. We diagnosed four sinus venosus ASD. In these cases, two came with outside report, and both were incongruent. One was diagnosed with ostium secundum ASD and other as dilated RA, right ventricle (RV) with moderate pulmonary hypertension. As sinus venosus ASDs are invariably associated with partial anomalous pulmonary venous drainage and can be missed in usual echocardiographic views, special attention should be given in the presence of RA/RV dilatation.[15] In Lutembacher syndrome, patients remain less symptomatic and present late as high-pressure left atrium due to mitral stenosis has pop off to RA from ASD.[18]

One 59-year-old VSD patient was diagnosed earlier with severe rheumatic AR, whereas this was due to significant prolapse of the right coronary cusp into VSD. One small subpulmonic VSD was misdiagnosed as severe PS and in one perimembranous VSD patient had old healed vegetation on the tricuspid valve, which was missed earlier. Special attention is needed for associated echo findings in small VSDs such as aortic regurgitation, aortic valve prolapse, and vegetation as small VSD needs to be closed in the presence of these findings.[19]

PDA was the third most common defect in our study population. All patients with PDA were newly diagnosed in this study. Out of six PDA patients, four were small-to-moderate-sized PDA with no significant pulmonary hypertension and other two were large PDA with Eisenmengerization. Large PDA Eisenmengerise earlier than ASD or VSD as pulmonary artery is exposed to systemic pressure in both systole and diastole. In case of dilated RA/RV and severe pulmonary hypertension, PDA should be looked for. On clinical examination, reverse differential cyanosis helps in diagnosis of PDA in adults.[20]

BAV patients develop early valvar stenosis or regurgitation. There are also chances of progressive aortic dilatation due to aortic wall ectasia. These cases may be misdiagnosed as rheumatic disease as seen in our study [Table 3]. Isolated AS due to commissural fusion in BAV should be differentiated from rheumatic AS, which is usually associated with mitral valve involvement.[21] In two patients, coarctation of the aorta (COA) was missed and reported as left ventricular hypertrophy due to hypertension. Special emphasis on Doppler study of descending aorta must be given in cases of uncontrolled hypertension particularly in young adults.[22] The clinical examination provides important clue to diagnosis of CHD in adults. Continuous murmur on auscultation should be evaluated for all possible differentials on echocardiography. In our study, we have diagnosed two such cases one had restrictive proximal AP window and another had ruptured sinus of Valsalva aneurysm.[23]

Among cyanotic patients, TOF was the most common lesion. Many patients in the study had rare congenital heart defects who somehow reach their adulthood or older age. We have seen one case of TOF with absent pulmonary valve in a 22-year-old patient, which is very rare even in pediatric age group.[24] Two patients of idiopathic dilatation of pulmonary artery had dilated pulmonary arteries with normal size RA/RV and normal pulmonary artery pressure on echocardiography. The diagnosis was confirmed by cardiac catheterization and CT angiography study.[25]

Considering the number of cases detected over a short period of time and most of them if managed can have near-normal life expectancy with no significant morbidity, more emphasis should be given to detecting CHD while doing echocardiography. A population-based study will help as many of the patients were asymptomatic or detected during the evaluation of nonspecific symptoms. Considering congenital heart disease in adults who remained undiagnosed as rare entity, many of these patients were misdiagnosed on clinical or echocardiographic basis. According to recent advances in cardiac imaging techniques, most congenital defects can be detected in early life by pediatric cardiologists. However, commonly, some of CHDs are undetectable during childhood but diagnosed later in adolescents or adults.

  Conclusions Top

If cardiologists or echocardiographers are trained about anatomy, hemodynamics, and systematic approach to diagnose CHD, detection of these cases is quite possible at early age and misdiagnosis can be avoided.[5] Once definitive diagnosis is reached, proper treatment plan and repair of the congenital defect when possible leads to improved duration and quality of life. A multicentric study with large sample size is needed to quantify the exact burden of adult CHD in our country.

Ethical approval

Our institutional ethical committee approved the collection of retrospective data from the records for the publications.

Authors' contributions

PKJ,VKA,ABK,SK,VAM,SS - Concepts & Design, Definition of intellectual content, manuscript review; PKJ, VKA, ABK- Literature search; PKJ, SS- Clinical studies; PKJ, VAM, SS- Data acquisition; PKJ, VKA,SS- Data analysis; PKJ, VKA,SK- Manuscript preparation & editing.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

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