Pattern of Adult Congenital Heart Disease in aTertiary Care Hospital in Saudi Arabia

Methods: The clinical records of 30 patients referred to the Adult Congenital Heart Disease Program at a tertiary care hospital in Western Saudi Arabia were reviewed for the study. The patients were categorized into four groups based on their diagnoses: left to right shunt lesions; complex lesions; obstructive lesions; and arrhythmia. Following the diagnosis, four different type of treatments were provided to patients: 1) Interventional catheterization, 2) Surgery, 3) Medical treatment, or 4) No intervention.


Introduction
Congenital Heart Disease (CHD) causes the most frequent birth defect which, according to some researchers, has geographical variations in terms of the incidence rate and the type of heart defects. Although the most widely quoted incident rate of CHD in the world is 8/1000 live births, evidence from the literature indicates that the actual rate varies between 1.2-17 [1], with the rate in the Middle East being on the higher end at 12.23 [2].
As the growing number of patients with CHD is surviving well into their adulthood, the need for a regional center that specializes in the treatment of these patients who often require life-long follow up care has become imperative. The need for a specialized care facility for Adults with Congenital Heart Disease (ACHD) is especially urgent in the Middle East where patients often do not get diagnosed in a timely manner because of a late presentation to the health care system as well as a lack of availability to the medical resource. The treatment of individuals living with CHD is resource-intensive which causes a significant burden on health care costs. A careful planning in developing the necessary resources for this population, who often exhibit comorbidity, would ensure the maximum benefit of health care funding.
Examination of the type and pattern of patients with CHD being treated in Saudi Arabia would assist with collecting necessary information for addressing both the current and changing needs of this population and for developing health policies to provide direction in the health care system.
The purpose of this study was to describe the patient profile and the type of intervention provided to a group of individuals treated in a tertiary care facility in Saudi Arabia.

Methods
The clinical records of 30 patients referred to the Adult Congenital Heart Disease Program in a tertiary care hospital in Jeddah, Saudi Arabia, were reviewed for the study. The demographic data collected from each patient includes: age, sex, nationality, height and weight. Clinical data was also collected on the patient's diagnosis, presenting signs and symptoms, type of intervention performed, and the outcome of the intervention.

Results
The summary of the demographic characteristics of 30 patients is presented in Table 1. The subjects consisted of twelve males and eighteen females ranging in age from 14 to 59 years (mean: male=20, female=25). The mean height and weight were 164 cm and 55 kg, respectively, for males, and 154 cm and 51 kg for females. Although the patients were of diverse nationalities including Saudi, Yemen, Egyptian, Palestinian, Somalian and Sudanese, more than 50% of them were Saudis. The nationalities of two patients were unknown. The diagnosis and treatment options for each of the 30 patients were established following clinical examination, 2D transthoracic echocardiography, color Doppler, and cardiac catheterization. Each of the patient's diagnosis, presenting signs and symptoms and the type of the intervention received in the hospital are presented in Table  2. The data pertaining to the patients' age at each time of the diagnosis, the initial presentation to the hospital for treatment and the first intervention, are illustrated in Table 3. It was interesting to note that, in a few patients whose diagnosis of the CHD had been established relatively early in childhood allowing for a timely intervention, it still took them a mean of 13 years to seek treatment despite the severe limitation in activities they had been experiencing from their symptoms.
Following the examination of clinical data, patients were categorized into four groups based on the type of their diagnoses: the first group consisting of left to right shunts lesions (n=16); the second group consisting of complex lesions (n=7); the third group consisting of obstructive lesions (n=5); and the fourth group consisting of arrhythmia (n=2).

Left to right shunts
Sixteen out of thirty patients were affected with left to right shunt lesions. For some of the patients in this group, the congenital anomalies had been discovered either by accident or from a routine physical examination in school. Although not all patients were symptomatic, the primary presenting complaints of these patients were Shortness of Breath (SOB), exercise intolerance and fatigue. For example, a 25 year old male with a partial Atrioventricular Septal Defect (AVSD), who works as a National Guard Army Officer, had been suffering for fifteen years with easy fatigue that often forced him to take sick days from work. In two years prior to presenting to the hospital, his condition has progressively worsened and he had begun experiencing syncope, which would last approximately two minutes per episode. The episodes of syncope increased in frequency to the point where it would sometimes occur almost daily. Another patient, a 40year old female diagnosed with an Atrial Septal Defect (ASD), had had previous surgery to close the defect. Her husband, however, reported that the ASD reopened shortly after the intervention. By the time she entered the ACHD program at a tertiary care hospital thirteen years later, she had developed a severe pulmonary hypertension with an echocardiographic finding of a tricuspid valve regurgitation peak systolic pressure gradient of 86  For a 40-year old patient with ASD II, her existing condition of severe pulmonary hypertension and its associated bi-directional shunts precluded neither a cardiac catheterization nor a surgery. She was instead put on a medical treatment of Sildenafil and Furosemide-, with a possibility in future of surgery if she responded favorably to the treatment. One patient with a muscular Ventricular Septal Defect (VSD) did not require any intervention as the defect was considered to be too small to cause any hemodynamic problems. Two patients, one in need of a surgery for a perimembranous VSD and another in need of a cardiac catheterization for a muscular VSD, did not show up for the procedures.

Complex heart lesions
Seven patients belonged in the group of complex congenital heart lesions, which by definition, referred to individuals having three or more associated lesions. These individuals were severely limited in their activities by their CHD in comparison to patients in other categories. All patients exhibited cyanosis and suffered from SOB     Outlet Right Ventricle (DORV), VSD, pulmonary valve stenosis (PS) and sub-PS received the bi-directional Glenn procedure at age 10, however the follow-up history of the procedure was unknown. The fourth patient with levo-transposition of great arteries (L-TGA), DORV, VSD, and Valvar PS received a palliative Pulmonary Valvuloplasty at age 10, and although having had regular follow-up care, he has since been experiencing frequent episodes of symptomatic Paroxysmal Supraventricular Tachycardia (PSVT) that often required hospitalization to resolve it. The fifth patient with Tetralogy of Fallot (TOF) was diagnosed at the age of two months and subsequently had the BT Shunt performed at four months. The patient did not maintain regular follow-up care and, after seventeen years, has presented with a continuous and progressively worsening cyanosis. The sixth patient, also with TOF, was first seen at the age of eight months when apparently the first cardiac catheterization was performed. It is unclear, however, whether the procedure was diagnostic or interventional in nature. Nonetheless the patient fared relatively well until three years ago when she started to experience SOB with minimal exertion and easy fatigue.
The team members of the Adult Congenital Heart Disease Program agreed that all but two patients required surgical intervention. Of the two remaining patients, the patient with Ebstein's Anomaly who had developed a severe aortic regurgitation was considered to be too high a risk for a surgical procedure and therefore, was placed on a medical treatment instead.

Obstructive lesions
The obstructive lesions observed in five patients were in the form of either a severe PS or a Coarctation of Aorta (CoA). While all patients suffered from SOB, one of the patients experienced an additional symptom of syncope. Most of the patients were in NYHA class II. The mean peak pressure gradient across the obstruction prior to the intervention was 86 mmHg, which decreased to 25.6 mmHg following the intervention. The interventional catheterization of balloon valvuloplasty was performed on all patients including one patient who refused surgery and opted for a catheterization treatment instead. The Cristal Balloon was utilized in three patients with PS and one patient with CoA, while the Double Lumen Balloon was utilized in one patient with CoA.

Arrhythmia
Two patients were affected with arrhythmia. An 18-year old male developed an atrial flutter with 3:1 AV block following the resection of 8 × 5 cm myxoma in his left atrium. The other 17-year old male was diagnosed with Wolf-Parkinson-White Syndrome associated with increasing episodes of palpitation. Palpitation was occurring a few times a month and often required hospital treatment to resolve. Electrophysiology study revealed an easily inducible AVRT (atrial ventricular re-entry tachycardia) and atrial fibrillation with rapid ventricular response in the range of 250-300 bpm. Both patients underwent successful Radiofrequency Ablation Therapy.

Discussion
This study describes the clinical profile and treatment of selected patients referred to one of the few tertiary care centers capable of treating CHD in Saudi Arabia. The patients in this study were afflicted with congenital heart defects that varied in clinical complexity from mild to severe. All patients except one required either interventional catheterization or surgery to repair and/or hasten the symptomatic progression of the defects.
The most common types of CHD lesions observed in this study's participants were ASD and VSD of left-to-right shunt lesions. The high number of patients affected with ASD and VSD has previously been noted in different studies that reported the three most common defects as VSD, ASD, and TOF [1,[3][4][5]. The actual prevalence rate of patients born with ASD and VSD in the Middle East may be much higher than the observed number given that the patients included in the study were limited to those who had access to the tertiary regional health center. The high incidence of CHD in the Middle East could partly be attributed to some of the genetic causative factors such as autosomal recessive mutations [6]. More specifically, evidence suggests that the parental consanguinity, a commonly observed cultural practice in people of the Middle East, is one of the factors that increase the risk of CHD by two to three times [7][8][9].
The type of heart defects reported to be significantly associated with first-cousin consanguinity is: VSD, ASD, AVSD, PS, and PA [6]. However, it was unknown whether, or how many, of the study participants were offspring of parental consanguinity.
The number of patients with complex heart lesions was also relatively high and accounted for almost as many cases as ASD and VSD combined. Many of the patients with complex lesions were delayed in receiving first intervention attributable to being diagnosed relatively late in childhood. Even in those patients whose diagnosis had been established early after birth and therefore were in a position to receive the most optimal treatment available, it took them almost 10 years to seek treatment. By this time, they were severely limited in functional capacities and their congenital heart lesions too advanced to obtain a maximum benefit from the intervention. Some of the reasons for the delay in establishing a diagnosis or seeking necessary treatment may be due to the lack of available regional facilities or the patient's inability to access the facilities for economic reasons [10]. One of the patients in particular, for reasons unknown, failed to seek the required treatment for a prolonged period. By the time she sought treatment, the progress of the disease was far too advanced for treatment.

Conclusion
As individuals with CHD are now experiencing increased longevity as a result of advanced surgical and medical treatments, the issues of possible complications or residual lesions of repaired heart defects as well as the necessary long term follow-up care for those with complex congenital heart defect place a high demand for tertiary care centers equipped with highly trained specialists and staff with complex knowledge of CHD. An awareness of the importance on early diagnosis and treatment by the primary physician, along with the education of patients and family affected with congenital heart disease on the importance of the continued follow-up care in the center that specializes in adult congenital heart disease, cannot be over-emphasized.