Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants

Abstract The purpose of this study was to characterize a large group of infants with complete DiGeorge anomaly and to evaluate the ability of thymus transplantation to reconstitute immune function in these infants. DiGeorge anomaly is characterized by varying defects of the heart, thymus, and parathyroid glands. Complete DiGeorge anomaly refers to the subgroup that is athymic (< 1%). The characteristics of 54 subjects at presentation and results from 44 consecutive thymus transplantations are reported. Remarkably, only 52% had 22q11 hemizygosity and only 57% had congenital heart disease requiring surgery. Thirty-one percent developed an atypical phenotype with rash and lymphadenopathy. To date, 33 of 44 subjects who received a transplant survive (75%) with post-transplantation follow-up as long as 13 years. All deaths occurred within 12 months of transplantation. All 25 subjects who were tested 1 year after transplantation had developed polyclonal T-cell repertoires and proliferative responses to mitogens. Adverse events developing after transplantation included hypothyroidism in 5 subjects and enteritis in 1 subject. In summary, diagnosis of complete DiGeorge anomaly is challenging because of the variability of presentation. Thymus transplantation was well tolerated and resulted in stable immunoreconstitution in these infants.

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Long-Term Follow-up after Radiofrequency Catheter Ablation of Atrial Tachycardias in Patients with Congenital Heart Disease

10.1055/s-0040-1705579 ◽

2020 ◽

Author(s):

S. Klehs ◽

H. Schneider ◽

D. J. Backhoff ◽

M. Müller ◽

T. Paul ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Catheter Ablation ◽

Radiofrequency Catheter Ablation ◽

Congenital Heart ◽

Long Term Follow Up

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Different levels of care for follow-up of adults with congenital heart disease: a cost analysis scrutinizing the impact on medical costs, hospitalizations, and emergency department visits

The European Journal of Health Economics ◽

10.1007/s10198-021-01300-5 ◽

2021 ◽

Author(s):

Ruben Willems ◽

◽

Fouke Ombelet ◽

Eva Goossens ◽

Katya De Groote ◽

...

Keyword(s):

Emergency Department ◽

Congenital Heart Disease ◽

Heart Disease ◽

Cost Analysis ◽

Congenital Heart ◽

Emergency Department Visits ◽

Levels Of Care ◽

The Impact ◽

Different Levels

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Nineteen Years of Adult Congenital Heart Surgery in a Single Center

World Journal for Pediatric and Congenital Heart Surgery ◽

10.1177/2150135116682454 ◽

2017 ◽

Vol 8 (2) ◽

pp. 182-188

Author(s):

Madurra Perinpanayagam ◽

Signe H. Larsen ◽

Kristian Emmertsen ◽

Marianne B. Møller ◽

Vibeke E. Hjortdal

Keyword(s):

Risk Factors ◽

Congenital Heart Disease ◽

Cardiac Surgery ◽

Heart Disease ◽

Postoperative Complications ◽

Adverse Events ◽

Congenital Heart ◽

Postoperative Bleeding ◽

Registration System ◽

Growing Population

Background: Adults with congenital heart disease are a growing population. We describe surgical interventions, short- and long-term mortality and morbidity, and risk factors for adverse events in a population-based cohort. Methods: Patients over or equal to 18 years with congenital heart disease who underwent cardiac surgery at Aarhus University Hospital, Denmark, from 1994 to 2012 were included in the study. Diagnoses, surgical procedures, postoperative complications, and survival were identified in hospital databases, medical records, and the Danish Civil Registration System. Results: Four hundred seventy-four surgeries were performed in 445 adults (50% men). The median age was 39 years (range 18-83). Thirty-nine percent had previous surgical or catheter-based interventions. Thirty-day and in-hospital mortality were 1.1%. Postoperative complications occurred in 50% of cases, most were minor such as temporary arrhythmias and pneumonia. Major complications included postoperative bleeding necessitating intervention (6%), stroke (2%), and acute temporary renal failure (1%). Multivariate analysis identified RACHS-1 categories over or equal to 3 compared to category 1 (odds ratio (OR) = 2.3; 95% confidence interval (CI): 1.5-3.7), New York Heart Association functional class III and IV compared to class I (OR = 2.2; 95% CI: 1.3-3.7) and age at surgery (OR = 1.03, 95% CI: 1.01-1.04), as risk factors for adverse events. Survival during a median follow-up of 7.8 years (range 0 days-21.4 years) was 85% (95% CI: 80%-89%). Conclusion: Adults with congenital heart disease constitute a growing population with the need for cardiac surgery. Postoperative complications are frequent but early and late mortality are low.

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Double Inlet Left Ventricle with Eisenmenger Syndrome in an Adult – A Case Report

International Journal of Medical Students ◽

10.5195/ijms.2017.173 ◽

2017 ◽

Vol 5 (1) ◽

pp. 53-56

Author(s):

Rahul Regi Abraham ◽

Rahul Regi Abraham

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Left Ventricle ◽

Congenital Heart ◽

Pulmonary Stenosis ◽

Eisenmenger Syndrome ◽

Tertiary Center ◽

History Of ◽

Double Inlet Left Ventricle

Background: Patient diagnosed with double inlet left ventricle (prevalent in 5 – 10 in 100,000 newborns) complicated with Eisenmenger syndrome had a median survival age of 14 years without corrective surgery. Congenital heart disease such as this is usually treated by multiple surgeries during early childhood. A surgically uncorrected case in adults is not of common occurrence. Further, generalized itching after coming in contact with water (aquagenic pruritis) presented an interesting conundrum to treat. Case: A 29-year-old patient in India presented at a primary health care center with a history of difficulty breathing and discoloration of extremities since birth. He also gave a history of itching which commonly occurred after taking bath, hemoptysis and history of turning blue in color after birth. Patient had received no treatment besides regular phlebotomies. On examination, there was grade IV clubbing and conjunctival congestion. Cardiovascular examination revealed an enlarged heart, heaving apex beat and a pan-systolic murmur. A provisional diagnosis of a congenital cyanotic heart disease was made. Investigations revealed hemoglobin of 16.8g/dl. X–ray and electrocardiogram showed hypertrophy of the ventricles. An echocardiogram showed double inlet left ventricle with L-malposed vessels but without pulmonary stenosis. A final diagnosis of congenital heart disease; double inlet left ventricle, L-malposed vessels without pulmonary stenosis, Eisenmenger Syndrome and absolute erythrocytosis was made. Patient was advised for further management with a cardiologist in a tertiary center but the patient did not follow up. Conclusion: Unlike in high-income countries where most congenital heart diseases are detected and dealt with at birth whereas low-and middle-income nations often have to deal with cases that present much later and should often be included in the differential diagnosis. Inability to follow up cases, centers that are poorly equipped and lack of facilities for investigations, patient’s lack of medical awareness, and financial restrictions are major barriers to providing optimal treatment.

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Discontinuity of Cardiac Follow‐Up in Young People With Congenital Heart Disease Transitioning to Adulthood: A Systematic Review and Meta‐Analysis

Journal of the American Heart Association ◽

10.1161/jaha.120.019552 ◽

2021 ◽

Author(s):

Philip Moons ◽

Sandra Skogby ◽

Ewa‐Lena Bratt ◽

Liesl Zühlke ◽

Ariane Marelli ◽

...

Keyword(s):

United States ◽

Systematic Review ◽

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Heart Defects ◽

Meta Analysis ◽

Transition Programs ◽

The United States

Background The majority of people born with congenital heart disease require lifelong cardiac follow‐up. However, discontinuity of care is a recognized problem and appears to increase around the transition to adulthood. We performed a systematic review and meta‐analysis to estimate the proportion of adolescents and emerging adults with congenital heart disease discontinuing cardiac follow‐up. In pooled data, we investigated regional differences, disparities by disease complexity, and the impact of transition programs on the discontinuity of care. Methods and Results Searches were performed in PubMed, Embase, Cinahl, and Web of Science. We identified 17 studies, which enrolled 6847 patients. A random effects meta‐analysis of single proportions was performed according to the DerSimonian‐Laird method. Moderator effects were computed to explore sources for heterogeneity. Discontinuity proportions ranged from 3.6% to 62.7%, with a pooled estimated proportion of 26.1% (95% CI, 19.2%–34.6%). A trend toward more discontinuity was observed in simple heart defects (33.7%; 95% CI, 15.6%–58.3%), compared with moderate (25.7%; 95% CI, 15.2%–40.1%) or complex congenital heart disease (22.3%; 95% CI, 16.5%–29.4%) ( P =0.2372). Studies from the United States (34.0%; 95% CI, 24.3%–45.4%), Canada (25.7%; 95% CI, 17.0%–36.7%), and Europe (6.5%; 95% CI, 5.3%–7.9%) differed significantly ( P =0.0004). Transition programs were shown to have the potential to reduce discontinuity of care (12.7%; 95% CI, 2.8%–42.3%) compared with usual care (36.2%; 95% CI, 22.8%–52.2%) ( P =0.1119). Conclusions This meta‐analysis showed that there is a high proportion of discontinuity of care in young people with congenital heart disease. The highest discontinuity proportions were observed in studies from the United States and in patients with simple heart defects. It is suggested that transition programs have a protective effect. Registration URL: www.crd.york.ac.uk/prospero . Unique identifier: CRD42020182413.

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Long‐Term Outcome of Patients With Congenital Heart Disease Undergoing Cardiac Resynchronization Therapy

Journal of the American Heart Association ◽

10.1161/jaha.120.018302 ◽

2021 ◽

Author(s):

Peter Kubuš ◽

Jana Rubáčková Popelová ◽

Jan Kovanda ◽

Kamil Sedláček ◽

Jan Janoušek

Keyword(s):

New York ◽

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Heart Association ◽

Cardiac Resynchronization ◽

New York Heart Association ◽

Crt Response

Background Cardiac resynchronization therapy (CRT) is rarely used in patients with congenital heart disease, and reported follow‐up is short. We sought to evaluate long‐term impact of CRT in a single‐center cohort of patients with congenital heart disease. Methods and Results Thirty‐two consecutive patients with structural congenital heart disease (N=30) or congenital atrioventricular block (N=2), aged median of 12.9 years at CRT with pacing capability device implantation, were followed up for a median of 8.7 years. CRT response was defined as an increase in systemic ventricular ejection fraction or fractional area of change by >10 units and improved or unchanged New York Heart Association class. Freedom from cardiovascular death, heart failure hospitalization, or new transplant listing was 92.6% and 83.2% at 5 and 10 years, respectively. Freedom from CRT complications, leading to surgical system revision (elective generator replacement excluded) or therapy termination, was 82.7% and 72.2% at 5 and 10 years, respectively. The overall probability of an uneventful therapy continuation was 76.3% and 58.8% at 5 and 10 years, respectively. There was a significant increase in ejection fraction/fractional area of change ( P <0.001) mainly attributable to patients with systemic left ventricle ( P =0.002) and decrease in systemic ventricular end‐diastolic dimensions ( P <0.05) after CRT. New York Heart Association functional class improved from a median 2.0 to 1.25 ( P <0.001). Long‐term CRT response was present in 54.8% of patients at last follow‐up and was more frequent in systemic left ventricle ( P <0.001). Conclusions CRT in patients with congenital heart disease was associated with acceptable survival and long‐term response in ≈50% of patients. Probability of an uneventful CRT continuation was modest.

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Stent Implantation to Maintain Patency of a Stenosed Blalock Taussig Shunt

Asian Cardiovascular and Thoracic Annals ◽

10.1177/021849230501300318 ◽

2005 ◽

Vol 13 (3) ◽

pp. 274-276 ◽

Cited By ~ 9

Author(s):

Amjad Kouatli ◽

Jameel Al-Ata ◽

M Omar Galal ◽

Muhammed A Amin ◽

Arif Hussain

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Oxygen Saturation ◽

Stent Implantation ◽

Congenital Heart ◽

Balloon Dilation ◽

Complex Congenital Heart Disease ◽

Blalock Taussig Shunt

A 14-year-old female with complex congenital heart disease underwent a left-sided classical Blalock Taussig (BT) shunt 15 days after birth. Ten years after the operation her oxygen saturation had decreased significantly. An angiography revealed a severely stenosed BT shunt. Balloon dilation including implantation of a 6 × 13 mm stent was performed successfully. Immediately after intervention, oxygen saturation rose from 55% to 80 84% in room air. Follow-up at a year and a half later showed the classical BT shunt was still patent.

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Implementation of Transition Programs can Prevent Another Lost Generation of Patients with Congenital Heart Disease

European Journal of Cardiovascular Nursing ◽

10.1016/j.ejcnurse.2008.10.001 ◽

2008 ◽

Vol 7 (4) ◽

pp. 259-263 ◽

Cited By ~ 55

Author(s):

Philip Moons ◽

Deborah Hilderson ◽

Kristien Van Deyk

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Birth Defect ◽

Congenital Heart ◽

Transition Programs ◽

Medical System ◽

Lost Generation ◽

Specialized Care ◽

Lost To Follow Up

Congenital heart disease is the most frequently occurring birth defect. To date, more than 90% of the children born with a heart defect reach adulthood. Since many patients are prone to residua and sequelae, lifelong specialized care is required. However, studies indicate that about one-half to three-quarters of the patients are lost to follow-up when they have grown up. This has resulted in a virtual lost generation. Lapse of care is associated with significant morbidity. Therefore, implementation of strategies to prevent patients from failing to continue regular follow-up is critical. It is argued that transition programs that inform patients about the rationale for ongoing follow-up and that teach them how to navigate the medical system can avoid another lost generation.

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