Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal condition.

BACKGROUND: Neonatal Marfan syndrome is a rare disease with mortality in the first year of life reported as high as 95% predominantly due to progressive heart failure from valvar regurgitation and cardiomyopathy. Multisystem involvement and uncertain prognosis have historically precluded transplant candidacy, and current management options are of limited success. CASE REPORT: We present a baby girl with a postnatal diagnosis of neonatal Marfan syndrome who at 1 year of age underwent mitral valve and tricuspid valve repair with postoperative profound left ventricular and moderate right ventricular dysfunction necessitating biventricular assist device (BiVAD) support and subsequent heart transplant. A number of noncardiac issues persisted in our patient; however, she enjoyed a good quality of life for the initial 3 years posttransplant. Unfortunately, she subsequently developed rapidly progressive coronary allograft vasculopathy (CAV) with progressive deterioration in function and cardiac arrest. CONCLUSION: To our best knowledge, this is only the second case of neonatal Marfan syndrome to undergo heart transplant reported in the literature and the first with BiVAD support as a bridge to candidacy. This is also the first case of neonatal Marfan syndrome associated with intragenic duplication. This case though demonstrating that earlier listing, ventricular assist device (VAD) support and even primary transplant as treatment in neonatal Marfan syndrome should all be considered viable options but also portends a cautionary tale given the spectrum of comorbidities in this rare and severe disorder.

Cardiac allograft vasculopathy: A review.

BACKGROUND: Heart transplantation has become the standard of care for pediatric patients with end-stage heart disease, and outcomes have consistently improved over the last few decades. CAV, however, remains a leading cause of morbidity and mortality in heart transplantation and is the leading cause of death beyond 3 years post-transplantation. We sought out to provide an in-depth overview of CAV in the pediatric heart transplant population. METHODS: Database searches were conducted in both Medline and Embase on the topic of cardiac vasculopathy in pediatric heart transplant recipients. The search used five broad concept terms: heart transplant; pediatric; CAV; diagnosis, prognosis, and risk factors; and guidelines and reviews. References were captured if there was at least one term in each of the concepts. The search was limited to articles in the English language. RESULTS: A total of 148 articles were identified via the literature search with further articles identified via review of references. Pediatric data regarding the etiology and development of CAV remain limited although knowledge about the immune and non-immune factors playing a role are increasing. CAV continues to be difficult to detect with many invasive and non-invasive methods available, yet their effectiveness in the detection of CAV remains suboptimal. There remains no proven medical intervention to treat or reverse established CAV disease, and CAV is associated with high rates of graft loss once detected. However, several medications are used in hopes of preventing, slowing progression, or modifying the outcomes. CONCLUSION: This review provides a comprehensive overview of CAV, discusses its clinical presentation, risk factors, diagnostic tools used to identify CAV in the pediatric population, and highlights the current therapeutic options and the need for ongoing research.

Optimal Donor Allograft Function: The Search for the Lowest Acceptable Donor Left Ventricular Ejection Fraction in Pediatric Heart Transplantation.

BACKGROUND: The availability of heart donors is limited by organ shortage. Due to concerns of reduced survival, donors with depressed left ventricular ejection fraction (LVEF <50%) have been cautiously used in pediatric heart transplantation. One strategy to expand the donor pool is to re-evaluate whether lower donor LVEF may be acceptable for transplantation. METHODS: We performed a multicenter retrospective cohort study of patients <18 y receiving heart transplants from April 2007 to September 2021 using the United Network of Organ Sharing dataset. We excluded retransplants and multiorgan transplants. Cut-point analyses of LVEF was performed and Kaplan-Meier method was used to compare 1-y survival for new cut-points and the standard (LVEF >50%). RESULTS: The analytic sample consisted of 5255 patients. Recipients receiving hearts with lower LVEFs were more likely to be on ventilator and extracorporeal membrane oxygenation support. Recipients did not differ in waitlist times or transplant status. Cut-point analysis identified LVEF 45% as a potentially new cutoff. One-year survival of recipients of donors with LVEF ≥45% (92.1%; 95% confidence interval [CI], 91.3%-92.8%) was similar to that of LVEF >50% (92.1%; CI, 91.4%-92.9%). Survival for the LVEF 45%-49% (88.8%; CI, 72.9%-95.7%) cohort was slightly lower than the ≥50% cohort, albeit nonsignificant. CONCLUSIONS: One-year survival among pediatric heart transplants using a donor heart LVEF threshold of 45% or 40% was similar to a threshold of 50%. However, the finding is based on a small number of patients with LVEF <50%, and future larger prospective studies are warranted to confirm the findings of this study before a lower LVEF threshold is considered.

Pediatric heart transplantation: long-term outcomes.

Pediatric heart transplant has become the standard of care for end-stage heart disease in children throughout the world. The number of transplants has grown dramatically since the first transplant was performed, and over the last two decades, outcomes have consistently improved with progression in knowledge enhancing the clinical course and outcomes of these patients. Short-term outcomes in the most recent era have been excellent resulting in a renewed focus towards medium- and long-term outcomes. This article will review the most up-to-date literature on overall heart transplantation outcomes and specific long-term outcomes including rejection, cardiac allograft vasculopathy, graft failure, infection, renal dysfunction, malignancy, and the need for re-transplantation. The article also explores the post-transplantation outcomes of special populations, including Fontan patients, ABO-incompatible recipients, sensitized recipients, extracorporeal membrane oxygenation, and ventricular assist devices. The article concludes with a look at transition from pediatric to adult care and medication adherence, which are becoming major issues related to long-term outcomes as post-transplant survival increases.

A case series of left main coronary artery ostial atresia and a review of the literature.

Left main coronary artery ostial atresia (LMCAOA) is a rare congenital anomaly of the coronary arteries. The published literature regarding the current diagnostic and management recommendations are limited. We present three case series of LMCAOA from our institution, including one with a unique association with anomalous origin of left coronary artery (LCA) from pulmonary artery. In addition, this report includes a review of 50 pediatric and 43 adult cases from literature. The majority of the patients were symptomatic. Sudden cardiac death occurred in 10% of pediatric patients and 7% of adult patients. Almost half of pediatric patients had additional cardiac lesions. At the time of diagnosis, 82% of patients had abnormal exercise stress test and 73% had abnormal myocardial perfusion imaging (MPI). The diagnosis of LMCAOA was suspected by echocardiography in 47% of pediatric patients, while 26% were initially misdiagnosed as anomalous origin of LCA from pulmonary artery. Coronary angiography confirmed the diagnosis in most cases and 70.5% of pediatric patients had small collaterals, while 80.5% of adult patients had large collaterals. Nine pediatric patients had no revascularization surgery with five deaths. Revascularization surgery was performed in 39 pediatric patients with four deaths. After 2005, there is a gradual shift toward performing coronary osteoplasty rather than coronary artery bypass grafting. Eighteen adult patients had revascularization surgery and all survived. Fifteen adult patients had no revascularization surgery, of which there were five deaths. In patients with LMCAOA, revascularization surgery is currently recommended in the presence of symptoms, ischemic changes on electrocardiogram or exercise stress test, myocardial perfusion defect on MPI, global left ventricular systolic dysfunction on echocardiogram, severe mitral regurgitation, or small-sized collaterals in coronary angiography. Short-term and mid-term outcomes are encouraging.