Patterns of congenital heart disease in unoperated adults: a 20-year experience in a developing country

BACKGROUND: The number of patients with congenital cardiac disease reaching adulthood is increasing steadily. Many adults with such disease face both medical and surgical difficulties. HYPOTHESIS: This retrospective study was undertaken to assess the frequency and outcome of congenital heart disease (CHD) in unoperated adults. METHODS: The charts of all patients with unoperated CHD, who were admitted to a tertiary care center in Beirut, Lebanon, between 1980 and 2000 were reviewed. Of these, 206 patients (52% men, age at admittance 18-71 years [32.8 +/- 13.3 years]) with a diagnosis of CHD were evaluated. Atrial septal defect (ASD) was the most common cardiac malformation with a relative frequency of 53%, followed by ventricular septal defects (11%), tetralogy of Fallot (11%), aortic anomalies (7%), pulmonary stenosis (6%), and Ebstein anomaly (4%). Most patients were symptomatic upon presentation, with dyspnea on exertion being the most common presenting symptom. Twenty-seven patients (13%) had cyanotic CHD. Of 179 acyanotic patients, 113 (63%), and 17 of 27 cyanotic patients (63%) underwent surgical intervention. In-hospital surgical complications for the acyanotic group included cerebrovascular accident (2%) and heart block (1%). Total surgical mortality was 4 of 130 (3%). One patient with tetralogy of Fallot presented with endocarditis and died. CONCLUSION: Atrial septal defect is the most common defect reported in our experience; however, it occurs more frequently than that reported in the literature. Although most patients were symptomatic on presentation, their functional status was stable. Accordingly, their hospital course, whether managed medically or surgically, held a relatively low complication rate. This could be attributed to the uncomplicated nature of pathologies in our series. The surgical mortality and in-hospital complications were slighter higher than those reported for similar lesions if repaired during childhood. This study reflects the relative frequency of various cardiac malformations in selected patients with "grown up" congenital heart disease (GUCH) and their natural survival pattern.     

Two cases of pheochromocytoma associated with tetralogy of Fallot.

We report two cases of pheochromocytoma combined with tetralogy of Fallot who showed different clinical courses. Case 1 was a 45-year-old woman with a history of radical operation for tetralogy of Fallot at 20 years of age. She presented with sudden hypertensive attack, and was diagnosed with pheochromocytoma of the left adrenal gland. She was treated surgically, and her high plasma noradrenaline level normalized. Case 2 was a 41-year-old woman who had been suffering from severe cyanosis due to tetralogy of Fallot throughout her life. A palliative operation had been performed at 7 years of age, but a radical operation had not been performed. She has had resistant hypertension since 38 years of age. She was diagnosed as having pheochromocytoma of the left adrenal gland at 41 years of age, but surgery was not performed. She was pharmacologically treated with doxazosin, followed by bisoprolol. Her symptoms somewhat improved, although she continued to have high plasma levels of noradrenaline and adrenomedullin. The combination of pheochromocytoma with tetralogy of Fallot or cyanotic congenital heart disease is rare; however, pheochromocytoma and congenital heart disease might be related through chronic hypoxia and/or gene abnormalities. The presence of pheochromocytoma worsens the hemodynamic state in patients with congenital heart disease regardless of whether radical surgery for congenital heart disease had been performed. Differential diagnosis of pheochromocytoma could be paramount in congenital heart disease patients who show unexpected or unusual symptoms.     

Unrepaired Tetralogy of Fallot in an 85‐Year‐Old Man

Tetralogy of Fallot is the most common cyanotic congenital heart defect and accounts for about 5% of all congenital cardiopathies. The definitive treatment modality for tetralogy of Fallot is reparative surgery, which is recommended to be performed by the time of diagnosis. Without surgical repair, most patients would die during their childhood. In the past, survival data indicated that 66% of persons with tetralogy of Fallot not surgically treated lived until the age of 1, 49% lived until the age of 3, and 24% lived until the age of 10. We now present a rare case of a man with unrepaired tetralogy of Fallot who survived until the age of 85. He presented to our emergency room for dyspnea and palpitations due to a new‐onset high‐frequency atrial fibrillation and acute heart failure; transthoracic echocardiography showed the presence of tetralogy of Fallot. By consulting the scientific literature, we can say that this is the second patient who survived more than 80 years without surgical intervention.     

Tetralogy of Fallot and hypertrophic cardiomyopathy: a rare association

Tetralogy of Fallot is known as the most common cyanotic congenital heart disease and has a prevalence of 10% of all congenital heart diseases. Although many other heart anomalies may coexist, the association of tetralogy of Fallot and hypertrophic cardiomyopathy is extremely rare. We report this association in a 15-month-old female, cyanotic since birth, in her first hospital admission for diagnosis and treatment of recurring cyanotic crises. In addition, a review of the literature and of the problems related to the treatment is provided.     

Thrombus in Right Ventricular Outflow Tract: Unique Cause of Refractory Cyanotic Spell

Iron deficiency state in patients with cyanotic congenital heart disease can mimic as well as aggravate hyperviscosity symptoms. Correction of iron deficiency in these cases is expected to improve symptoms. We report an unexpected occurrence of refractory cyanotic spell in a child with tetralogy of Fallot due to thrombus in right ventricular outflow tract following intravenous iron sucrose therapy.     

Angeborene Herzfehler in Deutschland

The PAN study recorded a prevalence of 1.08% for congenital heart defects in live births throughout Germany. 61% of the cardiac defects were diagnosed as mild whereas severe lesions were diagnosed in 12%. The most common congenital heart defect was a ventricle septum defect, which occurred in more than 50% of the patients. The most frequent cyanotic cardiac defects were tetralogy of Fallot and transposition of the great arteries. A hypoplastic left heart syndrome was present in more than half of all univentricular hearts. Postnatal diagnosis is carried out relatively early in Germany in comparison to other contemporary nationwide studies. The prenatal detection rate for severe congenital heart defects was 43%. If a fetal echocardiography was performed the diagnosis was made prenatally in 93% of all duct-dependent cardiac defects.     

新鲜自体心包在心脏手术中应用的经验

目的介绍新鲜自体心包在心脏手术中应用的经验。 方法我院在321例心脏手术中应用了未经戊二醛处理的新鲜自体心包作为修复材料,应用范围广泛,包括先天性心脏病、风湿性心脏病和心脏肿瘤。 结果术后早期死亡20例,手术死亡率6.1%。并发症1例法乐四联症根治术后室间隔缺损残余漏,经二次手术修补治愈出院。3例室间隔缺损修补术后少量残余漏,随诊观察。全组75.7%的病人获得随诊,无术后溶血、栓塞、感染性心内膜炎、补片钙化及心包片瘤样膨出等并发症。 结论新鲜自体心包是心脏手术的优良修复材料。     

A population-based prospective evaluation of risk of sudden cardiac death after operation for common congenital heart defects

Objectives. This study sought to define 1) the risk of sudden death after operation for common congenital heart defects; and 2) factors associated with an increased risk of sudden death.Background. Although the prognosis for patients with congenital heart defects is improved by surgical treatment, they remain at a well recognized but poorly defined risk of late sudden death.Methods. This population-based study evaluated all patients <19 years old undergoing surgical treatment of common forms of congenital heart disease in the state of Oregon between 1958 and 1996. Patients were identified retrospectively through 1958, with prospective biannual follow-up beginning in 1982. The incidence and cause of late sudden death were evaluated for 3,589 patients surviving operation for the following defects: atrial, ventricular and atrioventricular septal defects; patent ductus arteriosus; pulmonary stenosis; aortic stenosis; coarctation of the aorta; tetralogy of Fallot; and d-transposition of the great arteries.Results. There were 41 unexpected late sudden deaths during 45,857 patient-years of follow-up, an overall event rate of 1/1,118 patient-years. Thirty-seven of the 41 late sudden deaths occurred in patients with aortic stenosis, coarctation, transposition of the great arteries or tetralogy of Fallot, an event rate of 1/454 patients-years. In contrast, only four sudden deaths occurred among the other defects, an event rate of 1/7,154 patient-years (p < 0.01). The risk of late sudden death increased incrementally 20 years after operation for tetralogy of Fallot, aortic stenosis and coarctation. However, risk was not dependent on patient age at operation or surgical era. The causes of sudden death were arrhythmia in 30 patients, circulatory (embolic or aneurysm rupture) in 7 and acute heart failure in 4.Conclusions. The risk of late sudden death for patients surviving operation for common congenital heart defects is 25 to 100 times greater than an age-matched control population. This increased risk is primarily represented by patients with cyanotic or left heart obstructive lesions. The risk of sudden death appears to be time dependent, increasing primarily after the second postoperative decade.     

Adult cyanotic congenital heart disease: surgical experience.

Cyanotic congenital heart diseases constitute about 10 percent of total congenital heart disease cases in adults in the developing world. Prolonged cyanosis and old age adversely affect the outcome of surgery, thus posing a challenge to the cardiac surgeons. This study was conducted to assess the feasibility, safety and outcome of surgery in this group of patients. From January 1991 to December 1997, a total of 303 patients, aged 14 to 54 years (mean 19.8 +/- 1.5 years) with diagnosis of various cyanotic congenital heart diseases were operated at our institute. There were 210 males (69.3%). Two hundred and forty-seven patients (81.5%) had tetralogy of Fallot's physiology, 51 patients (16.8%) had single ventricle physiology and five (1.6%) had other lesions. Sixty-six patients (21.7%) had pre-operative complications such as haemoptysis, epistaxis, cerebrovascular accidents, brain abscess and infective endocarditis. Sixty patients (19.8%) had previous palliative shunts and 26 patients (8.5%) had coil embolisation of major aortopulmonary collaterals prior to surgery; 229 patients (75.5%) underwent biventricular repair, 52 (17.1%) had univentricular repair, 22 (7.7%) had palliative shunts and one patient had open ligation of a major aortopulmonary collateral in addition. In-hospital mortality was 3.3 percent. Follow-up period ranged from five months to seven years (mean 4.2 +/- 1.8 years). There were two late deaths. Of the 291 survivors, 11 were lost to follow-up. Two hundred and fifty-eight patients (92.1%) are in New York Heart Association class I. Significant residual defects warranting reoperation were present in four patients (1.3%). It is concluded that congenital heart surgery in older cyanotic patients can be performed safely with satisfactory results.     

Plastic bronchitis in children: a case series and review of the medical literature

Plastic bronchitis is characterized by marked obstruction of the large airways by bronchial casts. We reviewed our experience and the literature to determine whether mortality rates are determined by underlying disease or cast type. We present 3 children with obstructive bronchial casts. One 3-year-old patient with Noonan's syndrome developed respiratory failure following surgery for tetralogy of Fallot requiring support with extracorporeal membrane oxygenation (ECMO) the first such case. There were 42 cases in the literature of children with plastic bronchitis. Casts may be divided into two types. Type I casts are inflammatory, consisting mainly of fibrin with cellular infiltrates, and occur in inflammatory diseases of the lung. Type II, or acellular casts, consist mainly of mucin with a few cells, and usually occur following surgery for congenital cardiac defects. Patients categorized by underlying disease included 31% with asthma or allergic disease, 40% with underlying cardiac defects, and 29% with other diseases. Mortality was 16%, but increased to 29% in patients with cardiac defects. Deaths occurred as long as 1 year after surgical repair for underlying defects. There were no deaths in patients with asthma. Life-threatening events were statistically higher in patients with cardiac defects (41%) than in those with asthma (0%, P = 0.02). Higher mortality in patients with type II casts compared to type I casts did not reach statistical significance (28% vs. 6%; P = 0.06). In conclusion, patients presenting with plastic bronchitis are at high risk for serious complications, especially with underlying cardiac disease.     

Transcatheter recanalization and subsequent stent implantation for the treatment of early postoperative thrombosis of modified Blalock-Taussig shunts in two children

Two babies with duct-dependent cyanotic congenital heart disease were palliated with modified Blalock-Taussig shunts. One patient was diagnosed to have tetralogy of Fallot, and the other patient, tricuspid atresia type Ia. Early postoperative arterial oxygen saturations dropped significantly due to shunt thrombosis. Both patients were successfully treated with angioplasty and stent implantation. Cathet. Cardiovasc. Diagn. 45:405–408, 1998. © 1998 Wiley-Liss, Inc.     

Tetralogy of Fallot with Dextrocardia and Situs Inversus in a 7-Year-Old Boy

Tetralogy of Fallot is one of the most frequently diagnosed congenital cardiac abnormalities; however, its association with dextrocardia and situs inversus is reported only rarely. We report a case of these findings in a 7-year-old boy, describe the patient''s postoperative course, and review the medical literature relevant to these combined conditions.Key words: Cardiac surgical procedures, child, coronary vessel anomalies/complications, dextrocardia, heart defects/congenital, situs inversus, tetralogy of Fallot/complications/diagnosis/epidemiology/surgery, treatment outcomeTetralogy of Fallot (TOF) is the most frequently diagnosed cyanotic congenital heart defect. It is often associated with additional findings, such as secundum atrial septal defect or right aortic arch. Its association with complete situs inversus is rarely reported and can present technical challenges to intracardiac repair. We report the case of a child who had TOF with dextrocardia and situs inversus, discuss the patient''s postoperative course, and review the relevant medical literature.     

Uncorrected acyanotic tetralogy of fallot decompensated in adulthood after an acute onset of malaria

Tetralogy of Fallot is the most frequent cyanotic congenital heart disease. Usually, the condition is diagnosed and treated during the first year of life. Few reports of uncorrected tetralogy of Fallot reaching adulthood are found in the literature. Occasionally the pulmonary obstruction is relatively mild and the presentation is with minimal cyanosis. This particular situation is called "pink tetralogy" or "acyanotic tetralogy". For these adults surgical repair is still recommended, since the results of surgery are good and the operative risk is low. We report the case of a 55-year-old man with an uncorrected acyanotic tetralogy of Fallot diagnosed after right cardiac failure triggered by an acute onset of malaria.     

Left ventricular non‐compaction: Prevalence in congenital heart disease

Introduction

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare cardiomyopathy, originally described as an isolated disease without other structural cardiac abnormalities. The aim of this study was to explore the prevalence of LVNC among adults with different types of congenital heart disease.

Methods

From our databases we identified adults with congenital heart disease who fulfilled diagnostic criteria for LVNC. We report frequencies of associated congenital cardiac defects and the prevalence of LVNC among patients with different congenital heart defects.

Results

From a total of 202 patients with LVNC, 24 patients (12%; mean age 32 ± 11 years, 19 males) had additional congenital cardiac defects. Associated defects were left ventricular outflow tract abnormalities in 11 patients (46%), including 7 uni- or bicuspid aortic valves; two aortic coarctations; one diffuse aortic hypoplasia and one subaortic stenosis, Ebstein anomaly in 6 patients (25%), tetralogy of Fallot in two (8%), and double outlet right ventricle in one patient (4%). In our cohort, the prevalence of LVNC was highest among patients with Ebstein anomaly (6/40, 15%), followed by aortic coarctation (2/60, 3%), tetralogy of Fallot (3/129, 2%) and uni- or bicuspid aortic valves (7/963, 1%).

Conclusion

In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC.     

Pseudoaneurysm formation after infected modified Blalock-Taussig shunt: echocardiographic findings

The modified Blalock-Taussig (B-T) shunt is well recognized as a palliative procedure for cyanotic congenital heart disease in infants. Pseudoaneurysm formation after a modified B-T shunt is a rare complication. We present the case of a 9-month-old girl with tetralogy of Fallot who had undergone a modified left B-T shunt at 5 months of age and developed a pseudoaneurysm after an episode of infective endocarditis as detected by echocardiography. Compression of the left bronchus, displacement of the mediastinum to right chest, and paralysis of the left hemidiaphragm were found. Magnetic resonance images, computed tomography scans, aortograms, and selective angiograms demonstrated the presence of a large pseudoaneurysm. The compression syndrome gradually disappeared after aneurysmectomy.     

Infective endocarditis: a five-year experience at a tertiary care hospital in Pakistan.

OBJECTIVES: Infective endocarditis is common and data regarding its pattern and outcome from developing countries is sparse. We therefore examined the spectrum, demographics and clinical features of infective endocarditis and sought to determine the factors affecting its clinical outcome. PATIENTS AND METHODS: Over a five-year period at our university hospital in Karachi, Pakistan, we identified 66 patients with infective endocarditis and compared their clinicoepidemiologic features and outcomes to subjects in the West. RESULTS: The male:female ratio was 2:1; overall median age was 24 years (35.5 years for men and 13.5 years for women) (p < 0.001). Median duration of symptoms before presentation was 20.5 days. Major predisposing cardiac abnormalities included congenital (50%) and rheumatic (23%) lesions, and a history of heart surgery (17%). Causative organisms and valvular sites of infection were similar to those seen in developed countries. Blood culture-negative infective endocarditis was found in 48% of cases. Renal failure was more frequent among culture-positive patients (p = 0.055). Risk factors for mortality included neurologic (p = 0.003) and embolic (p = 0.02) complications, renal (p = 0.03) and left ventricular failure (p = 0.002), and a history of cardiac surgery (p = 0.026). Overall mortality was 27%. CONCLUSIONS: Patients with infective endocarditis in Pakistan exhibit significant differences compared to their counterparts in the West, including younger age at presentation, incidence of predisposing cardiac conditions, and gender differences reflecting sociocultural bias. Neurologic and embolic complications, renal failure and heart failure predict a worse outcome.     

54 cases of infectious endocarditis seen in 32 years in a population of 2038 congenital heart diseases

A longitudinal study of a 32-year period (1954-1987) involving 2038 patients with congenital heart defects followed by the same physician yielded 54 cases of infective endocarditis (IE). Complex cyanogenic cardiopathies were particularly exposed to the risk of infection (8.2 IE for 1000 patient-years), then came ventricular septal defects (2.4), tetralogy of Fallot (2.3), aortic stenosis (2.0) and atrioventricular canal (1.7). The risk was smaller in patients with Eisenmerger complex (1.2), persistent arterial canal (1.4) and coarctation (0.7). Patients under 10 years of age (16.7%) were less affected than young adults in the 20-29 years age-group (33.4%). The organisms most frequently isolated were streptococci (42%); staphylococci ranked second (23%). Less common organisms were found in 14% of the cases, and blood cultures were negative in 21%. Systemic prophylaxis with penicillin V, introduced 16 years ago, seems to have almost halved the incidence of infective endocarditis due to penicillin-sensitive organisms.     

Complex congenital heart disease in adult complicated by endocarditis. Diagnostic difficulties

We describe a case of a 45-year-old man admitted with symptoms of infective endocarditis on tricuspid valve. At this time complex congenital heart disease was first time diagnosed. Differential diagnosis between tetralogy of Fallot and double-chambered right ventricle is discussed. At surgical exploration tetralogy of Fallot was confirmed. The patient underwent successful total surgical correction.     

Aortic root disease in tetralogy of Fallot

PURPOSE OF REVIEW: Progressive aortic root dilatation is a recognized feature of tetralogy of Fallot even in patients following initial reparative surgery. The underlying pathophysiology was initially attributed to altered hemodynamics resulting from longstanding volume overloading and stretching of the aortic root from increased right to left shunting. This review explores the pathophysiology and possible mechanisms for the aortic dilatation, and whether these changes are a reflection of the initial hemodynamic stress or a cellular expression of an unrecognized gene associated with conotruncal defects. RECENT FINDINGS: The recent publication of two case reports of aortic aneurysm and dissection in tetralogy of Fallot patients re-emphasized the fact that aortic root dilatation can no longer be regarded as a benign problem in tetralogy of Fallot patients. Findings of intrinsic histological abnormalities in the aortic root and ascending aorta of tetralogy of Fallot patients suggest that intrinsic abnormalities may also play an important causative role. SUMMARY: A better understanding of the pathophysiology will help to formulate future treatment and management strategies in the subgroup of tetralogy of Fallot patients with progressive aortic dilatation.