Outcomes of pregnancy in women with tetralogy of Fallot

BACKGROUND: Surgical results after repair of tetralogy of Fallot have remained excellent for the last decades, with current long-term rates of survival over 95%. Since functional capacity, quality of life, and social interactions are basically normal in this large group of patients, pregnancy obviously becomes a relevant issue for the female subgroup. In consequence, adequate obstetrical and cardiological management of pregnancy is particularly important. OBJECTIVE: To describe the outcomes of pregnancy, and fertility, in a series of women who underwent surgery for tetralogy of Fallot in a single centre. METHODS AND RESULTS: We obtained data from hospital records, national registries, and questionnaires on 78 women who underwent surgical correction of tetralogy of Fallot between 1972 and 1992. Of 58 women who reached an age of at least 18 years, with 45 of this cohort currently surviving, 13 having died as adults, there were 54 pregnancies in 25 women. The recorded rate of spontaneous abortion was 15%, and infertility rate was 3.4%. There have been 41 life births, with a median weight at birth of 3.2 kg. Only 1 newborn was small for gestational age, and no one was born before the 36th week. The recurrence rate of congenital heart disease was high, at 9.8%. Cardiac complications during or after pregnancy were not observed, and only one woman had pre-eclampsia. CONCLUSIONS: Pregnancy is well tolerated in women with tetralogy of Fallot, and an excellent neonatal outcome is expected. The recurrence risk of congenital cardiac disease, most often tetralogy of Fallot, is high.     

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.     

Secundum atrial septal defect in two families

Two families having secundum atrial septal defect (ASD) were reported. In one family, a 31-year-old male and his 60-year-old mother had secundum ASD without PR prolongation. His 38-year-old brother was diagnosed as having ASD. His grandmother, who had died at the age of 51, was suspected of having congenital heart disease. From early childhood she was noticed to have heart murmur. It was suspected that this was a case of familial ASD without PR prolongation, because it was consistent with the dominant trait of the defect. In the other family, a 16-year-old female had secundum ASD and her 18-year-old brother was also suspected of having ASD. Her 25-year-old brother had been operated on for tetralogy of Fallot, and her sister had died of an unknown congenital heart disease. All of these family members had mental retardation. Her 22-year-old brother was suspected of having a congenital heart disease, because of heart murmur from his early childhood. The parents, who were blood relations (cousins), had neither heart disease nor mental retardation. The children of this family were considered to be cases of congenital heart disease with ASD, associated with mental retardation. It was also suspected that the cause of the defect was a deleterious autosomal recessive gene.     

A critical increase in right-to-left shunt after acute myocardial infarction in a 68-year-old male with tetralogy of Fallot

A male patient with tetralogy of Fallot accompanied by aortic regurgitation had maintained sufficient exercise capacity for a number of decades with the status of acyanotic tetralogy of Fallot. When he was 67 years old, he suffered a posterior wall acute myocardial infarction and direct percutaneous coronary angioplasty successfully revascularised the target lesion in the left circumflex artery. However, a few months after the onset of the myocardial infarction, his shortness of breath became clinically significant and was associated with increased right-to-left shunt and increased right ventricular end-diastolic pressure, as well as hypoxia. At 68 years old, therefore, total corrective repair of the tetralogy with replacement of the aortic and pulmonary valves was performed. The patient was asymptomatic after the successful operation. This report suggests that coronary artery disease can be one of the potential factors in inducing critical hemodynamic changes in aging patients with congenital heart disease, especially those who have a shunt between the right and left chambers. The unique clinical course is described with some discussion of the repair of tetralogy in adults.     

A patient with von Recklinghausen's disease associated with polymyositis, asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma

A 72-year-old woman with von Recklinghausen's disease was referred to our hospital because of pain and muscle weakness in her thighs. She had elevated serum values of creatine kinase, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, and aldolase. Based on these results, a diagnosis of polymyositis was made. Treatment with prednisolone improved muscle strength, and laboratory values returned to normal. Computed tomography, magnetic resonance imaging of the abdomen, and 131I-metaiodobenzyl guanidine MIBG scintigraphy demonstrated a tumor 3 cm in diameter in the region of the left adrenal gland. Endocrinologic investigation disclosed elevation of serum and urine catecholamines. Since the blood pressure was normal, nonfunctioning pheochromocytoma was diagnosed clinically. The nonhypertensive course was attributed to reduced vascular response to noradrenaline. Serum lactate dehydrogenase. alkaline phosphatase. and asparate aminotransferase became elevated, and abdominal computed tomography showed a well-defined mass measuring 13 x 12 x 10 cm in the right lobe of the liver. The patient underwent right trisegmentectomy and left adrenalectomy. Histologically the adrenal tumor was a typical pheochromocytoma. The hepatic tumor was a leiomyosarcoma consisting of elongated spindle-shaped atypical cells arranged in intersecting bundles. Immunohistochemically, the cells of this tumor were reactive for alpha-smooth muscle actin and vimentin. The leiomyosarcoma recurred and metastasized to the liver. Eight months after onset of symptom, the patient developed hepatic coma and died. The mean age at presentation with pheochromocytoma in von Recklinghausen's disease patients age is 42 years. Our patient was considerably older. To the best of our knowledge this is the first report of a patient with von Recklinghausen's disease developing polymyositis. asymptomatic pheochromocytoma, and primary hepatic leiomyosarcoma and illustrates the need to remain aware of the possibility of cancer in von Recklinghausen's disease.     

Longevity in the setting of tetralogy of Fallot: survival to the 84th year

A patient with tetralogy of Fallot suffered minimal disability until the age of 45 years, when she developed bacterial endocarditis complicated by hemiplegia. She remained well, but became markedly polycythaemic and, at the age of 50 years, underwent surgical correction to reduce the risk of further thromboembolic incidents. She continued in remarkably good health until her death from lobar pneumonia in her 84th year. We present the post-mortem findings, since as far as we are aware this is the longest recorded survivorship of a patient with tetralogy of Fallot.     

Hepatocellular Carcinoma in an Adult with Repaired Tetralogy of Fallot

Liver fibrosis is a growing concern among adults with congenital heart disease, particularly for those who have undergone a Fontan operation. Liver fibrosis leads to cirrhosis, a precursor of hepatocellular carcinoma. A few cases of hepatocellular carcinoma in patients with prior palliative surgery for congenital heart disease have been identified in the literature. The current case reports the first known case of hepatocellular carcinoma in a 45‐year‐old male with repaired tetralogy of Fallot.     

Myocardial revascularization and complete correction of tetralogy of Fallot in an adult. A case report]

The case is reported of a 62 year-old male having a clinical history of grade II dyspnoea from 9 year ago and recently showing grade II angina. He had presented mild cyanosis. Suspecting the existence of coronary arteriosclerosis, and with the clinical diagnosis of tetralogy of Fallot based particularly on two-dimensional and M-mode echocardiography, and angio-hemodynamic study was made which confirmed the presence of congenital heart disease and also revealed significant coronary lesions of the circumflex and right coronary arteries. The patient underwent surgery which involved complete correction of the tetralogy of Fallot and the placing of two aortocoronary grafts onto the circumflex and right coronary arteries. Favorable progress was noted both immediately after operation and 6 months later. Although cases have been described of Fallot disease associated with acute myocardial infarction, we believe that this is the first time a patient has undergone myocardial revascularization at the same time as undergoing complete correction of the congenital heart disease.     

Reduced heart rate variability following repair of tetralogy of Fallot

OBJECTIVE: To examine autonomic function as assessed by heart rate variability in patients 10 or more years after repair of tetralogy of Fallot, and to relate this to cardiac structure, function, and electrocardiographic indices. METHODS: Heart rate variability was measured by standard time domain techniques on a 24 hour Holter ECG in 28 patients, aged 12 to 34 years (mean 19.5), who had undergone repair of tetralogy of Fallot at least 10 years previously. Echocardiography was performed to assess left ventricular size and function, right ventricular size and pressure, and any proximal pulmonary arterial stenosis. Right ventricular function was evaluated by radionuclide scan. QRS duration, QT interval, and QT dispersion were measured on a standard 12 lead ECG. Measurements of heart rate variability were compared with values from 28 age matched healthy controls (mean age 19.9 years). Interrelations between variables were assessed using Pearson correlation coefficients and stepwise regression analysis. RESULTS: Heart rate variability was reduced, compared with values for age matched normal controls, in 12 of the 28 patients. Reduced heart rate variability was associated with increased age, increased right ventricular size and pressure, and widening of the QRS complex. CONCLUSIONS: Reduced heart rate variability is a feature following repair of tetralogy of Fallot. It is associated with increasing age, impaired right ventricular haemodynamics, and widening of the QRS complex. Under these circumstances, reduced heart rate variability may be a marker for deteriorating right ventricular function. Increased QRS duration has been identified as a risk factor for sudden death following repair of tetralogy of Fallot, and impaired cardiac autonomic control may be one of the mechanisms involved.     

Three-vessel coronary artery disease complicated with congestive heart failure in a highly aged patient with tetralogy of Fallot having undergone palliative surgeries

An increasing number of patients with tetralogy of Fallot (TOF) are reaching older age. We encountered a 75-year-old woman with uncorrected TOF and concomitant severe coronary artery disease (CAD) with congestive heart failure. Her CAD risk factor was hyperlipidemia, which had been untreated. Successful percutaneous coronary interventions have improved her clinical condition and provided long-term survival. Although CAD is considered to be a rare complication in adults with TOF, both strict modification of CAD risk factors and early detection of CAD would be also required in this population, given the residual TOF lesions relating to acute exacerbation of clinical presentation.     

Congenital heart disease in Down's syndrome patients: a decade of surgical experience

Patients with Down's syndrome represent a significant subset of patients with congenital heart disease. Fifty-five patients with Down's syndrome have undergone surgical treatment for congenital heart disease at our institution in the past decade. Twenty-six had atrioventricular canal, 11 had ventricular septal defect, 7 had secundum atrial septal defect, 7 had tetralogy of Fallot, 3 had primum atrial septal defect and 1 patient had double outlet right ventricle. The thirty day mortality following operative intervention was 16.4%. Mortality was highest for tetralogy of Fallot followed by atrioventricular canal and ventricular septal defect. Long term mortality for all lesions was 27.3% over our follow-up period which averaged 33 months. Thirty day mortality compared similarly to previous reports of surgically treated Down's syndrome patients. When compared to our patients without Down's syndrome, the Down's population did not exhibit an increased risk for surgical treatment of congenital heart disease.     

Tetralogy of Fallot in the elderly

Tetralogy of Fallot was first diagnosed during life in this patient at the age of 61 years. He represents one of the oldest reported patients with this congenital heart anomaly. This report presents a case of a previously undiagnosed patient with tetralogy of Fallot.     

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.     

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.     

Pregnancy and congenital heart disease

Congenital heart disease as a complicating factor in pregnancy has assumed increasing clinical importance because improved techniques of surgical repair have resulted in a larger proportion of affected women living to the reproductive age. The most serious forms are those associated with pulmonary hypertension (such as the Eisenmenger syndrome), which carry a prohibitively high risk of maternal death. Complex forms of cyanotic heart disease, of which the commonest is the tetralogy of Fallot, are only slightly less dangerous. It has recently been recognized that children born to women with congenital heart disease are at increased risk of having cardiac defects; fetal echocardiography is therefore an important diagnostic test. Optimal care of the pregnant woman with congenital heart disease is best provided by a team consisting of internist-cardiologist, obstetrician-perinatologist, obstetric anesthesiologist, and ultrasonographer-echocardiographer.     

A case of extraadrenal pheochromocytoma associated with adrenal cortical nodular hyperplasia and papillary thyroid carcinoma.

A 64-year-old woman was admitted in November, 1996 for fluctuating blood pressure. There was multinodular goiter in her neck. High urine VMA and serum aldosterone were noted. Computed tomography showed an oval lesion in the left adrenal gland. Left adrenalectomy was performed and the pathology was proved to be adrenal cortical nodular hyperplasia. Fluctuating blood pressure and high urine VMA persisted after the operation. CT scan of the abdomen revealed a soft tissue mass in lower abdomen. The patient was admitted again in September, 1997. Laboratory examinations showed normal serum aldosterone, normal plasma renin activity and high urine VMA. Aspiration cytology of the thyroid gland disclosed papillary thyroid carcinoma. [131I]-metaiodobenzylguanidine image revealed a high uptake lesion in the right L-3 paravertebral area. Tumor excision and thyroidectomy were performed. The pathology was reported as extraadrenal pheochromocytoma and papillary thyroid carcinoma. Papillary thyroid carcinoma is rarely associated with pheochromocytoma. To our knowledge, this paper is the first report of a patient with extraadrenal pheochromocytoma associated with papillary thyroid carcinoma and adrenal cortical nodular hyperplasia.     

Aortic stenosis after uncomplicated surgical repair of tetralogy of Fallot

Tetralogy of Fallot is only rarely associated with aortic valvar disease. We present a child who had uncomplicated repair of tetralogy of Fallot at 16 months of age, and who developed mild aortic stenosis three years later, with mild to moderate aortic incompetence being seen two years subsequent to that event. No aortic valvar disease had been noted prior to surgery. No intervention is planned at this stage.     

轴位心血管造影对法乐氏四联症右心功能的评价

采用轴位心血管造影对14个心脏标本行各种角度投照,选择最佳角度准确测量右心室腔容量;并对34例法乐氏四联症(简称四联症)患者进行右心功能测定。结果表明:四联症术前右室功能低于正常,成年组较儿童组明显减低,提示四联症为一种后天进行性加重的先天心脏畸形,应尽早手术矫治。     

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.