Pregnancy, Genetic Risk and Congenital Heart Disease

An increasing number of women with congenital heart disease (CHD) are reaching childbearing age and are considering pregnancy. Pregnancy is tolerated well in most of these women with unoperated, or repaired cardiac lesions; however, the risk is increased considerably in certain situations such as pulmonary hypertension, severe valvular stenosis, pulmonary atresia, mechanical prosthetic valves, with Fontan type circulation, in Marfan syndrome and other aortopathy. Counseling prior to pregnancy in CHD also involves discussion of genetic testing, possibility of transmission to the child, management during pregnancy including preimplantation genetic testing, and recommendations regarding fetal echocardiography. All medications including anticoagulation options if needed should be carefully reviewed prior to pregnancy due to maternal and fetal risks. If needed, cardiac surgery or balloon valvuloplasty can be carried out with an increased risk to mother and fetus. Overall, pregnancy in CHD is feasible in most patients with good maternal and fetal outcome. High risk pregnancy patients with CHD have to be counseled by a multidisciplinary team including cardiologists, obstetricians and anesthesiologists at a tertiary care center

Management and outcome of Ebstein's anomaly in children

Abstract Objectives To assess clinical presentation, treatment, and outcome of children with Ebstein's anomaly. Background Data on long-term outcome of children with Ebstein's anomaly are scarce. Methods Retrospective analysis of all children with Ebstein's anomaly treated between February, 1979 and January, 2009 in a single tertiary institution. Primary outcomes included patient survival and need for intervention, either cardiac surgery or catheter intervention. Results A total of 42 patients were diagnosed with Ebstein's anomaly at a median age of 5 days ranging from 1 day to 11.7 years. Symptoms included cyanosis, heart murmur, and/or dyspnoea. Associated cardiac anomalies occurred in 90% of the patients. Average follow-up was 9.5 plus or minus 7.0 years. The overall mortality rate was 14%. Of the six patients, three died postnatally before treatment. Cardiac surgery and/or catheter-guided interventions were required in 33 patients (79%). Cardiac surgery was performed in 21 (50%) patients at a median age of 9.1 years (range 0.1-16.5 years), including biventricular repair in 13 (62%), one-and-a-half chamber repair in seven (33%), and a staged single-ventricle repair in one. Peri-operative mortality was 4%. Catheter-guided interventions consisted of device closure of an atrial septal defect in three cases and radiofrequency ablation of accessory pathways in nine patients. The estimated 10-year survival was 85.3 plus or minus 5.6%. Conclusion In children, Ebstein's anomaly is usually diagnosed in the first year of age. Even though children with Ebstein's anomaly often require an intervention, their peri-operative mortality is low and long-term survival is good. Symptomatic newborns requiring an intervention may have a worse outcom

Sinus node disease and arrhythmias in the long-term follow-up of former professional cyclists

Aims Significant brady- and tachyarrhythmias may occur in active endurance athletes. It is controversial whether these arrhythmias do persist after cessation of competitive endurance training. Methods and results Among all 134 former Swiss professional cyclists [hereafter, former athletes (FAs)] participating at least once in the professional bicycle race Tour de Suisse in 1955-1975, 62 (46%) were recruited for the study. The control group consisted of 62 male golfers matched for age, weight, hypertension, and cardiac medication. All participants were screened with history, clinical and echocardiographic examination, ECG, and 24 h ECG. The time for the last bicycle race of FAs was 38 ± 6 years. The mean age at examination was 66 ± 6 years in controls and 66 ± 7 years in FAs (P = 0.47). The percentage of study participants with >4 h current cardiovascular training per week was identical. QRS duration (102 ± 20 vs. 95 ± 13 ms, P = 0.03) and corrected QTc interval (416 ± 27 vs. 404 ± 18, P = 0.004) were longer in FAs. There was no significant difference in the number of isolated atrial or ventricular premature complexes, or supraventricular tachycardias in the 24 h ECG; however, ventricular tachycardias tended to occur more often in FAs than in controls (15 vs. 3%, P = 0.05). The average heart rate was lower in FAs (66 ± 9 vs. 70 ± 8 b.p.m.) (P = 0.004). Paroxysmal or persistent atrial fibrillation or flutter was reported more often in FAs (P = 0.028). Sinus node disease (SND), defined as bradycardia of 2.5 s (6 vs. 0%), was more common in FA (16%) than in controls (2%, P = 0.006). Observed survival of all FAs was not different from the expected. Conclusions Among FAs, SND occurred significantly more often compared with age-matched controls, and there is trend towards more frequent ventricular tachycardias. Further studies have to evaluate prevention of arrhythmias with extreme endurance training, the necessity of regular follow-up of heart rhythm, and management of arrhythmias in former competitive endurance athlete

Remodelling after surgical repair of atrial septal defects within the oval fossa

In a retrospective study, we analysed the data from 101 adults with echocardiographic follow-up after surgical repair of defects within the oval fossa at a mean age of 35 +/- 17 years; 56% of the cohort being above the age of 30 years. Mean age at follow-up was 44 +/- 18 years, and length of follow-up was up to 40 years (11 +/- 12 years). At follow-up, atrial fibrillation or flutter was present in one quarter. Dilation of the right atrium, found in 64%, of the left atrium, found in 44%, and of the right ventricle, found in 29%, were also frequent, as well as pulmonary arterial hypertension, which was found in 30%. Diminished right ventricular ejection fraction, in contrast, was very rare, found only in 1%, and abnormal left ventricular ejection fraction was not encountered. By multivariate analysis, predictors for right or left atrial, or right ventricular, dilation were age at follow-up, degree of tricuspid regurgitation, pulmonary hypertension, and/or atrial fibrillation. In a subset of 21 patients in sinus rhythm, we correlated prospectively the diastolic and systolic function of both ventricles with levels of brain natriuretic peptide, comparing values to those of 20 age-matched controls with a mean age of 46 +/- 14 years. Levels of brain natriuretic peptide were significantly higher in patients than in controls (p = 0.006), and correlated significantly with diastolic dysfunction (p = 0.007) and left atrial size (p < 0.0001). In the long-term follow-up after surgical repair of defect within the oval fossa, therefore, complete normalization of heart size and function is rare. Despite preserved systolic function, persistent diastolic dysfunction is common and is associated with elevated levels of brain natriuretic peptide, which may explain the late occurrence of atrial arrhythmias

Long-term follow-up after thoracic radiotherapy: symptomatic heart disease is an ominous digne

Background: Thoracic radiotherapy (RT), especially with past technology, may affect the heart, but rarely leads to symptoms. In patients with symptomatic heart disease after RT, outcome seems to be dismal. Methods: In this observational descriptive study, clinical characteristics, findings of ECG, echocardiography, cardiac interventions and follow-up were analysed in patients with prior RT and symptomatic heart disease. The patients were identified in the echocardiography database during a ten year period. Results: There were 25 patients who had thoracic RT at a median age of 35 years (range: 9–59) for lymphoma (12 patients), breast cancer (9) or other cancer (4). At least likely inclusion of the heart in the target volume of previous RT was present in of 16 of 20 patients with detailed information on RT. Last follow-up was 24 years (range: 5–57) after RT at a median age of 56 years (range: 30–84). Symptoms (≥1 per patient) included: dyspnea (21 patients), angina (12) and/or heart failure (10). Three patients had prior myocardial infarction. The following disease was found: moderate valvular disease in 19 patients (76%), coronary artery disease in 12 (48%), abnormal ECG in 18 (72%), relevant conduction system disease in 9 (36%), restriction / constriction in 7 (28%), and pericardial effusion in 4 (16%). Cardiac surgery was necessary in 12 patients (death in 2 patients), percutaneous coronary interventions in 5 and pacemaker implantation in 3. Endocarditis occurred in 2 patients. During follow-up (21 ± 8 months), death occurred in 6 patients (24%) and was due to heart disease in 5 of them. Conclusions: If symptomatic heart disease develops in the long-term follow-up after RT, complex disease of valves, coronary arteries, conduction system, myocardium and pericardium is frequently observed. Cardiac interventions are often necessary; and heart disdisease may be a common cause of death in these patients. Careful assessment and evaluation of treatment options are needed in this patient group

Management and outcome of Ebstein's anomaly in children

OBJECTIVES: To assess clinical presentation, treatment, and outcome of children with Ebstein's anomaly. BACKGROUND: Data on long-term outcome of children with Ebstein's anomaly are scarce. METHODS: Retrospective analysis of all children with Ebstein's anomaly treated between February, 1979 and January, 2009 in a single tertiary institution. Primary outcomes included patient survival and need for intervention, either cardiac surgery or catheter intervention. RESULTS: A total of 42 patients were diagnosed with Ebstein's anomaly at a median age of 5 days ranging from 1 day to 11.7 years. Symptoms included cyanosis, heart murmur, and/or dyspnoea. Associated cardiac anomalies occurred in 90% of the patients. Average follow-up was 9.5 plus or minus 7.0 years. The overall mortality rate was 14%. Of the six patients, three died postnatally before treatment. Cardiac surgery and/or catheter-guided interventions were required in 33 patients (79%). Cardiac surgery was performed in 21 (50%) patients at a median age of 9.1 years (range 0.1-16.5 years), including biventricular repair in 13 (62%), one-and-a-half chamber repair in seven (33%), and a staged single-ventricle repair in one. Peri-operative mortality was 4%. Catheter-guided interventions consisted of device closure of an atrial septal defect in three cases and radiofrequency ablation of accessory pathways in nine patients. The estimated 10-year survival was 85.3 plus or minus 5.6%.ConclusionIn children, Ebstein's anomaly is usually diagnosed in the first year of age. Even though children with Ebstein's anomaly often require an intervention, their peri-operative mortality is low and long-term survival is good. Symptomatic newborns requiring an intervention may have a worse outcome

Heart transplantation in congenital heart disease: in whom to consider and when?

Due to impressive improvements in surgical repair options, even patients with complex congenital heart disease (CHD) may survive into adulthood and have a high risk of end-stage heart failure. Thus, the number of patients with CHD needing heart transplantation (HTx) has been increasing in the last decades. This paper summarizes the changing etiology of causes of death in heart failure in CHD. The main reasons, contraindications, and risks of heart transplantation in CHD are discussed and underlined with three case vignettes. Compared to HTx in acquired heart disease, HTx in CHD has an increased risk of perioperative death and rejection. However, outcome of HTx for complex CHD has improved over the past 20 years. Additionally, mechanical support options might decrease the waiting list mortality in the future. The number of patients needing heart-lung transplantation (especially for Eisenmenger's syndrome) has decreased in the last years. Lung transplantation with intracardiac repair of a cardiac defect is another possibility especially for patients with interatrial shunts. Overall, HTx will remain an important treatment option for CHD in the near future

Validation of noncompaction criteria in dilated cardiomyopathy, and valvular and hypertensive heart disease

BACKGROUND: Echocardiographic characteristics typical of isolated left ventricular noncompaction (IVNC) have been well defined. The aim of this study was to validate diagnostic criteria of IVNC in valvular or hypertensive heart disease (HHD) or dilated cardiomyopathy. METHODS: We conducted a retrospective analysis of records and blind review of videotapes of all 19 patients with IVNC seen within 7 years in comparison with randomly selected patients from the same study period with dilated cardiomyopathy (31 patients), HHD (22 patients), and chronic severe valvular heart disease: mitral regurgitation (22 patients); aortic regurgitation (20); and aortic stenosis with bicuspid (22) or tricuspid (22) valves. RESULTS: Clinical characteristics and electrocardiographic findings did not differ between IVNC and other diseases. In IVNC, all patients had noncompacted (NC) segments with a 2-layered structure and wall thickening, and in most patients perfused recesses (95%) or hypokinetic segments (89%) were present. Both hypertrabeculation or presence of a meshwork were specific for IVNC, but the sensitivity for IVNC was only 11% for hypertrabeculation, respectively, 68% for meshwork. In dilated cardiomyopathy, perfused recesses (48%) and a 2-layered structure (26%) were seen but without wall thickening of these segments; all NC criteria including wall thickening were fulfilled in one patient (3%) only. In valvular heart disease or HHD, perfused recesses and a 2-layered myocardium were rare: two patients (5%) with aortic stenosis and one patient with HHD (5%) had NC. Although in IVNC wall thickening was confined to the 2-layered myocardial segments, it was diffuse in other diseases. CONCLUSIONS: Although some NC criteria are occasionally found in other heart disease, the combination of all criteria is very specific. All criteria of NC are rarely met in other disease than IVNC (< or = 5%)