To analyze symptoms, associated anomalies, diagnostic approach, and surgical procedures in patients with partial fenestrations of the coronary sinus, a rare congenital disorder.

Partial fenestrations of the walls that usually separate the coronary sinus from the left atrium, also known as partial unroofing of the coronary sinus, may result in increased flow of blood to the lungs, cyanosis, or bidirectional shunting. The diagnosis is important, but difficult to confirm.

We reviewed retrospectively the clinical, echocardiographic, operative, and follow-up data on 25 patients with partial fenestration of the coronary sinus. The patients had a median age of 8 years, and underwent cardiovascular surgery at Mayo Clinic between 1958 and 2003.

The initial diagnosis of a fenestration of the coronary sinus was made by the surgeon at repair of other congenital cardiac anomalies, by cardiac catheterization, or by echocardiography. In 14 patients, fenestration was missed during previous cardiovascular surgery. The most common associated cardiac lesions were atrial septal defects within the oval fossa, persistent left or right superior caval veins, and pulmonary or tricuspid atresia. In 7 patients, the symptoms were at least partially attributable to the fenestration, and included dyspnea, cerebral abscess, transient ischaemic attacks, and cyanosis. The fenestration was addressed surgically in 23 patients, and consisted of closure of the mouth of the coronary sinus, creation of an intra-atrial baffle, or direct repair of the fenestration. Death occurred in 1 patient due to complications unrelated to the repair. In the 24 early survivors, who have been followed up for a median of 85 months, 1 patient has died after a third reoperation for complex congenital cardiac disease.

Fenestrations of the coronary sinus are often missed in the preoperative evaluation of congenitally malformed hearts. When associated with right heart hypoplasia, atrial septal defect, or persistent superior caval vein, fenestrations of the coronary sinus should be considered as a possible additional finding. Once the diagnosis has been made, repair is straightforward.

A problem facing doctors treating adults with congenitally malformed hearts is that a significant number of these patients are lost for follow-up. The purpose of our study is to describe the medical history and clinical findings in a group of such adults that was lost for follow-up.

The Danish press ran a front-page story about adults with congenitally malformed hearts who were lost for follow-up. These patients were strongly advised to contact a center for congenital cardiac disease, and we examined all responding patients within four-weeks.

We carried out a structured interview, a clinical examination, echocardiography, and measured levels of N-terminal pro brain natriuretic peptide.

The number of responders was 147. Based on the diagnosis and the findings, further follow-up was scheduled for 52 (35.4%), either because of significant residual lesions, found in 32, or the risk of late complications, judged to be present in 20. Symptoms were present in 36.5% of patients scheduled for follow-up. The presence of a heart murmur was highly predictive of the need for further follow-up but the sensitivity was too low to recommend the use of auscultation as a screening test.

A large proportion of adults with congenitally malformed hearts who are lost for follow-up require regular assessment according to a modern standard. Symptoms, signs, and measurement of natriuretic peptide cannot replace full cardiological assessment. It is a challenge for centres treating adults with congenital heart disease to find the lost group of patient with significant cardiac malformations.

To compare the thickness of the intimal and medial layers of the carotid arteries, and the index of left ventricular mass, in children of parents suffering premature myocardial infarction, and to compare the findings with suitable controls.

Our population comprised 112 healthy adolescents, aged from 12 to 18 years, with a parental history of onset of coronary arterial disease under 55 years of age. We compared this cohort with 127 adolescents matched for age and gender, but without any history of coronary arterial disease in their first and second relatives. The thickness of the carotid arterial layers, and left ventricular mass, were assessed by high resolution carotid ultrasonography and echo doppler examination, respectively.

The mean age, body mass index, systolic and diastolic blood pressures of the patients and their controls was not significantly different. The intimal and medial thicknesses, and the index of left ventricular mass, however, as well as the levels of total and low density lipoprotein cholesterol, were significantly higher in the group of patients. In the entire population studied, the levels of total and low density lipoprotein-cholesterol correlated significantly with the arterial mural thicknesses, whereas age, male gender, positive parental history of premature coronary arterial disease, low density lipoprotein-cholesterol, and the index of body mass had significant correlations with the index of left ventricular mass. After adjustment for all covariates, the association of parental history of premature coronary arterial disease with intimal and media thickness and the index of left ventricular mass remained significant (R2 = 0.3).

Our findings complement some recent observations of functional and structural changes in the arteries of young and older adults with a familial predisposition to coronary arterial disease, and emphasize the importance of primary prevention of such disease.

Cardiac surgery for correction or palliation of congenital cardiac disease in infancy and childhood remains a privilege that is rarely accessible to two-thirds of the world’s population. This imbalance has created a unique spectrum of illness in patients with underlying congenital cardiac disease and complicating infective endocarditis in developing countries, including Pakistan. In this study, we characterize endocarditis as seen in such patients presenting in Karachi.

We reviewed retrospectively patients admitted to Aga Khan University with underlying congenitally malformed hearts and endocarditis between 1991 and 2004.

We identified 48 patients with endocarditis according to the modified Duke Criterions, with just over half the cases (54%) classified as definite endocarditis. Of the patients, 23 (49%) patients were more than 16 years old. Uncorrected left-to-right-shunts, tetralogy of Fallot, and congenital mitral valvar disease were the most common underlying defects. Patients with cyanotic defects, particularly of the complex type, were underrepresented (4%). Only 11 (22.9%) of the patients had a previous palliative or corrective surgery. In one-third of the patients (16), streptococcal species were identified as the microbiologic cause of endocarditis, and 22 (45.8%) had culture-negative endocarditis. In contrast, Staphylococcus aureus and enterococci caused endocarditis in only one patient each. There were no differences in mortality or complications between cyanotic and acyanotic congenital defects. Surgery was performed in nine (18.7%) patients with endocarditis, and of these, 13 (27.1%) died.

In contrast to the developed world, endocarditis in the developing countries, such as Pakistan, complicates uncorrected left-to-right shunts and tetralogy of Fallot, probably because patients with complex cyanotic defects fail to survive long after birth due to the lack of available surgery. Almost half of patients had culture-negative endocarditis, likely related to several factors.

To assess the level of psychological distress and styles of coping in both mothers and fathers of children who underwent invasive treatment for congenital cardiac disease at least 7 years and 6 months ago.

The General Health Questionnaire and the Utrecht Coping List were completed by parents of children with 4 different cardiac diagnoses.

Overall, in comparison with reference groups, parents of children treated for congenital heart disease showed lower levels of distress, manifested as lower levels of somatic symptoms, anxiety and sleeplessness and serious depression. Mothers of children with congenital heart disease reported significantly more somatic symptoms than fathers.

Further, compared to reference groups more favourable outcomes on coping were found; parents in our sample showed a weaker tendency to use styles of coping such as reassuring thoughts and less often expressed negative emotions (anger, annoyance). Mothers in our sample appeared to seek social support more often compared to fathers.

Overall, lower levels of psychological distress and few differences in styles of coping compared to reference groups were found in parents of children treated for congenital heart disease. We need to remain alert however, for individual parents at risk of adjusting poorly.

To determine the treatment and outcomes of a cohort of adults with the Fontan circulation diagnosed with intracardiac thrombus.

Formation of thrombus is common after the Fontan operation, albeit little has been published on the treatment and outcomes of these patients once they have developed an intracardiac thrombus.

We identified all patients who had been converted to the Fontan circulation from the cardiology database at the Toronto Congenital Cardiac Centre for Adults, Toronto, and The Royal Brompton Hospital, London, studying the period from 1981 to 2003. We then reviewed the relevant echocardiograms and medical records.

Intracardiac thrombus was identified in 28 of 235 patients with the Fontan circulation, the patients having an average age of 27 plus or minus 9 years. Of the patients, 21 were initially medically treated, 19 with heparin or warfarin, and 2 with thrombolysis, whereas 7 patients underwent immediate surgical removal of the clot. Overall mortality was 18%, with residual clots seen in 39% of surviving patients at 1 year of follow up. At presentation, the haemodynamic stability of each patient with intracardiac thrombus dictated initial strategies for management, with 17% of those with stable presentations undergoing immediate surgical treatment, as opposed to 75% of those with unstable presentations (p-value equals 0.04), as well as correlating with ultimate clinical outcome. The rate of death was 8% in haemodynamically stable patients, versus 75% in haemodynamically unstable patients (p value equals 0.01).

Formation of intracardiac thrombus is not rare in adults with the Fontan circulation, and carries a significant risk of death, especially in clinically unstable patients. Emphasis on prevention of formation of the clot is warranted.