disease

Congenital Heart Disease (CHD), known locally in Indonesia as Penyakit Jantung Bawaan (PJB), remains one of the most significant challenges in pediatric medicine, characterized by structural abnormalities of the heart that are present from birth. While the precise etiology of many cases remains elusive, medical experts are increasingly identifying a range of modifiable risk factors and systemic barriers to care that contribute to high mortality rates in Indonesia. Dr. Rizky Adriansyah, MKed, a pediatric specialist and the Chairman of the Cardiology Coordination Unit of the Indonesian Pediatric Society (IDAI), recently emphasized that while direct cause-and-effect relationships are difficult to pinpoint, certain environmental and physiological factors during pregnancy play a pivotal role in the development of these defects.

Speaking during a specialized webinar, Dr. Rizky noted that the complexity of CHD stems from the intricate process of fetal heart formation, which occurs very early in the first trimester of pregnancy. Because the heart is one of the first organs to develop, any disruption during these critical weeks can lead to permanent structural issues. Although the medical community continues to research the genetic underpinnings of CHD, current preventative strategies focus heavily on managing maternal health and environmental exposures during the gestational period.

Primary Risk Factors and the Importance of Prenatal Care

In contemporary medical literature, three primary risk factors have emerged as significant contributors to the incidence of CHD. The first is maternal infection, specifically the Rubella virus. Rubella, or German measles, is known to be teratogenic, meaning it can interfere with normal fetal development. When a pregnant woman contracts Rubella, the virus can cross the placenta and disrupt the formation of the fetal heart valves and chambers. This underscores the vital importance of the Rubella vaccine, which should ideally be administered well before conception to ensure the mother has sufficient immunity.

The second critical factor is nutritional deficiency, particularly a lack of folic acid. Folic acid, a B-vitamin, is essential for DNA synthesis and cell growth. A deficiency during the earliest stages of pregnancy is strongly linked not only to neural tube defects but also to cardiac malformations. Medical professionals urge women of childbearing age to maintain a diet rich in folate and to take supplements as soon as they plan to conceive, as the window for heart development often closes before a woman even realizes she is pregnant.

The third factor involves the consumption of certain medications by the mother. Specifically, anti-seizure medications (anticonvulsants) have been flagged as potentially increasing the risk of cardiac defects. Dr. Rizky pointed out that while these medications may be necessary for the mother’s health, their use must be closely monitored and balanced by a healthcare provider. Other historical risk factors, such as maternal smoking and alcohol consumption, remain relevant; however, the medical community notes that many cases of CHD occur in children whose mothers did not engage in these behaviors, suggesting that the condition is often the result of a complex interplay between genetics and environment.

The Statistical Burden of Congenital Heart Disease in Indonesia

The impact of CHD on neonatal health in Indonesia is profound. According to national data from 2017, CHD is the second leading cause of death during the neonatal period, accounting for approximately 17 percent of all infant deaths, surpassed only by complications related to prematurity. This statistic highlights a major public health crisis, as the survival of these infants often depends on the speed and accuracy of their diagnosis and subsequent medical intervention.

Global data from the World Health Organization (WHO) aligns with these concerns, suggesting that approximately one out of every 100 newborns worldwide suffers from some form of CHD. Of these cases, an estimated 25 percent are classified as "critical" CHD. Critical CHD refers to defects that require surgery or catheter intervention within the first year of life—and often within the first few days or weeks—to ensure the infant’s survival. In the Indonesian context, this translates to roughly two to four cases of critical CHD for every 1,000 live births. Given Indonesia’s high birth rate, the absolute number of affected children is substantial, placing a heavy burden on the nation’s specialized cardiac centers.

Barriers to Effective Treatment and Diagnosis

Despite the prevalence of the condition, Dr. Rizky revealed a sobering reality: less than 50 percent of CHD cases in Indonesia are currently being handled or treated effectively. This gap in care is the result of a multi-faceted crisis involving geography, infrastructure, and human resources.

One of the primary obstacles is the uneven distribution of medical facilities. Most advanced cardiac centers capable of performing pediatric heart surgery are located in major urban hubs, particularly on the island of Java. For families living in remote provinces or on outer islands, accessing these facilities is a logistical and financial nightmare. Furthermore, there is a significant shortage of pediatric cardiologists and specialized cardiovascular surgeons. The ratio of specialists to the total population remains far below the levels recommended for a country of Indonesia’s size.

Beyond physical access, there is the issue of diagnostic tools. Many primary health centers (Puskesmas) and regional hospitals lack the echocardiography machines necessary to visualize heart defects. Even when the equipment is available, there may not be enough trained personnel to interpret the results accurately. This is compounded by a general lack of public awareness; many parents do not recognize the subtle signs of a heart defect, leading to late-stage presentations where the child’s condition has already deteriorated.

Clinical Manifestations and the Role of Early Screening

Recognizing the symptoms of CHD is crucial for early intervention. One of the most common clinical signs in infants is a failure to thrive, characterized by slow weight gain despite adequate feeding. In more severe or critical cases, infants may exhibit cyanosis (a bluish tint to the skin, lips, or fingernails caused by low oxygen levels), rapid breathing, or excessive sweating, especially during feeding.

Dr. Rizky emphasized that critical CHD can often be detected within the first 24 to 48 hours of life, or at the latest, within the first week. To improve detection rates, medical experts advocate for the use of pulse oximetry screening. This is a non-invasive, fast, and cost-effective test that measures the oxygen saturation in a newborn’s blood. By placing a sensor on the baby’s right hand and either foot, healthcare providers can identify low oxygen levels that might indicate a heart defect before the baby even shows outward symptoms.

In addition to pulse oximetry, the traditional stethoscope remains a vital tool. The presence of a heart murmur—an unusual sound heard between heartbeats—is often the first red flag. While not all murmurs indicate a serious problem, any "organic" or suspicious murmur in a newborn warrants an immediate referral for an echocardiogram.

Strengthening the Healthcare Referral System and Public Education

To combat the high mortality rate associated with CHD, there is a pressing need to empower frontline healthcare workers, including midwives and general practitioners. In many parts of Indonesia, midwives are the primary attendants at births. Dr. Rizky suggested that if midwives are trained to perform basic screenings like pulse oximetry—a process that takes less than five minutes—the rate of early detection could rise significantly.

The "Sehatkan Jantung Anak Indonesia" (Healthy Hearts for Indonesian Children) initiative, which includes educational content on platforms like YouTube, serves as a resource for both parents and medical professionals. By providing clear, accessible information on how to conduct screenings and what symptoms to watch for, these digital tools aim to bridge the information gap in remote areas.

The broader implication of failing to address CHD is not just the loss of young lives, but also the long-term economic and social cost. Children with untreated heart defects often face chronic health issues, reduced quality of life, and increased healthcare costs for their families and the state. Conversely, early intervention—whether through medication, catheter-based procedures, or open-heart surgery—can often lead to a full and productive life.

A Call for Systemic Reform and National Awareness

The challenge of Congenital Heart Disease in Indonesia requires a coordinated response from the government, the medical community, and the public. From a policy perspective, there must be a continued effort to decentralize specialized cardiac care and provide better incentives for medical specialists to work in underserved regions. Strengthening the National Health Insurance (JKN) scheme to cover the high costs of cardiac interventions is also essential to ensure that life-saving treatment is not a privilege of the wealthy.

Furthermore, public health campaigns must continue to emphasize the importance of the "Golden Period"—the window of time where medical intervention is most effective. Preventing CHD starts with maternal health, but saving a child born with the condition starts with a prompt diagnosis. As Dr. Rizky concluded, while prevention during pregnancy is the ideal, once a child is born with a heart defect, the focus must shift entirely to rapid detection and treatment.

By integrating simple screening methods like pulse oximetry into standard newborn care protocols across all Indonesian provinces, the healthcare system can begin to close the gap between the number of cases and the number of survivors. The goal is a future where no child’s life is cut short by a treatable heart condition simply because of where they were born or a lack of awareness regarding their symptoms. The ongoing efforts of the IDAI and other health organizations represent a critical step toward achieving that vision, but the road ahead remains long and requires sustained national commitment.