Introduction
Concept and Structure of the FORWARD Clinic
How Did We Start?
Developing Expertise
Foundational Philosophy
Evolution of the Program
The Multidisciplinary Approach: Areas of Focus
Cardiovascular
Why is This Domain Important?
How Do We Approach Evaluation?
Cardiovascular Tips and Pearls of Wisdom
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No two individuals with a Fontan circulation are exactly alike and each have their own story to tell and trajectory to convey. Which aspects of the story contribute to the variability in outcomes is still unclear.
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At evaluation, detailed characterization is of value but so is the initial “doorway impression.” Well or unwell appearing? Ascites with thin extremities? Poor stature? Obesity?
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Oxygen saturation is important; however, more important is the concept of oxygen delivery. The pursuit of the highest possible oxygen saturation may not be of benefit to every individual with a Fontan circulation. We are not of the view to close fenestrations or pursue the occlusion of decompressing veno-venous collateral vessels if resting oxygen saturations are in the low 90% range, as doing so may increase the impedance for systemic venous return, increase venous congestion or raise central venous pressure. The optimal Fontan circulation is one that achieves balance and compromises between hosts of potentially competing physiological processes. An ideal individual may very well be one with an open fenestration, an oxygen saturation of 90–92%, with a compensatory slightly increased hemoglobin in the 14–16 gm/dL range. As such, the needle is thread in maintaining adequate downstream ventricular filling, with reasonable cardiac output to provide for adequate oxygen delivery at the lowest possible price of venous congestion.
Liver
Why is This Domain Important?
How Do We Approach Evaluation?
Liver Tips and Pearls of Wisdom
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Despite fears of many cardiologists, most patients/families appreciate learning about FALD. Patients with a Fontan circulation should be regularly screened by a hepatologist familiar with FALD and the benefits and limitations of current assessments.
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INR Values are typically mildly elevated (< 1.5). ALT and AST values are generally 1.5–2.5 times the upper limit of normal. Important to appreciate that these values are in fact “normal” for those with Fontan circulation. GGT values can be significantly higher than 2 times normal. GGT is a ubiquitous enzyme found on the external surface of cellular membranes; thus, markedly elevated values reflect not only liver impact but also extra-hepatic release as seen in cardiovascular disease and conditions of oxidative stress [16, 17].
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Platelet count values are a sensitive marker of portal hypertension in children without asplenia/polysplenia syndrome.
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Elastography overestimates the magnitude of fibrosis as the values are a composite of both hepatic vascular congestion and fibrosis. This is the reason why we recommend cardiac catheterization and liver biopsy to best understand the contribution of each variable—venous pressure and fibrosis—to the elastography values.
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Although there is currently little data to support demonstrated efficacy of any agents to treat FALD, there are drugs known to have salutary cardiovascular as well as antifibrotic properties that may prove to be useful (e.g., spironolactone)
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We have observed patients with Fontan circulation and protein-losing enteropathy may exhibit lower elastography values than those without protein-losing enteropathy. We speculate this occurs as a consequence of lymphatic flow “decompression” into the gut. Elastography values may, thus, be spuriously low and not reflect true degree of FALD present.
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We often use the magnitude of Sirius Red percent collagen staining as a measure of overall burden of fibrosis in our liver biopsies. For example, an increased level of percent Sirius red collagen staining (30–40%) within the context of elevated systemic venous pressures (> 15 mm Hg) on catheterization may prompt consideration of pulmonary vasodilator therapy. Conversely, a relatively low level of percent Sirius red collagen stating (< 10%) with relatively low systemic venous pressure (< 12 mm Hg) indicates favorable findings.
Endocrinology
Why is This Domain Important?
How Do We Approach Evaluation?
Endocrine-Based Tips and Pearls of Wisdom
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Children with Fontan physiology have a higher prevalence of short stature than the general population and this is often due to delayed growth with late puberty, needing no specific treatment but reassurance. As in the general population, when growth velocity is low, a work-up as described above is mandatory. In many cases, poor weight gain is the cause of the delay in growth and nutritional intervention leads to improvement. Children with genetic syndromes and complications such as PLE are the 2 groups in whom height is affected to a larger degree.
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In the cases complicated by PLE, growth improves with improvement of PLE, nutritional support, and cessation of steroid treatment. In Fig. 3, we display the growth curves of a male patient with PLE diagnosed at age 9 years, treated with diuretics and budesonide with subsequent growth failure and delayed puberty. Growth curve shows catch-up growth with a delayed pubertal growth spurt after improvement in PLE, budesonide wean, and improved nutritional intake.
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Many families ask us about growth hormone treatment for short stature. As in the general population, the minority of short children have GH deficiency and require GH treatment. We have prescribed GH in a small number of children diagnosed with GH deficiency. However, we do not recommend GH for Idiopathic Short Stature (ISS) or children with lymphatic complications such as PLE because GH has led to recurrent exacerbations of PLE in the Fontan circulation [24].
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A healthy nutrition and lifestyle and plenty of physical activity are the best advice we give to improve both growth and bone health in our children with Fontan circulation. Families of children with Fontan often think they should not be as physically active as other children and we always explain the beneficial effect of weight-bearing exercise such as walking and jogging on bone health and health in general.
Immunology
Why is This Domain Important?
How Do We Approach Evaluation?
Immunology-Based Tips and Pearls of Wisdom
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We do recommend administration of all routine immunizations, including live vaccines such as MMR and Varicella to all post-Fontan patients, regardless of their T-cell counts. Annual influenza vaccination, as well as COVID-19 mRNA-based vaccine are also recommended following CDC guidance.
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In some cases, viral warts can be severe, with excoriation leading to the potential for secondary infection (Fig. 4).
Behavioral Health and Psychology
Why is This Domain Important?
How Do We Approach Evaluation?
Behavioral Health and Psychology Based Tips and Pearls of Wisdom
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Many of the patients that come through the program have never met with a psychologist before. Some families have been traumatized by their medical and surgical experiences, with both patient and parental anxiety and stress levels commonly elevated. The vast majority of patients/families are agreeable to meet with the psychologist, and many express appreciation for the incorporation of mental health as part of the comprehensive evaluation they are receiving in clinic. If patients or families express doubt or uncertainty about whether they need to meet with psychology, they are provided psychoeducation about the role of psychology in this context. That is, in addition to a focus on mental health, which many patients expect, the psychologist also addresses issues related to the child’s medical condition and neurodevelopment.
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A key element of our program is that it provides truly integrated care for patients. While there are many models for how psychologists can be integrated into healthcare teams, fully integrated care involves ongoing discussion and collaboration with sub-specialty physicians and other clinicians to create a unified treatment plan that considers all aspects of the patient’s healthcare needs [35]. Mental health goals and recommendations are not pursued simply in parallel with physical health treatment, and they are integrated into the conceptualization of the patient’s needs through collaborative, face-to-face, discussions with the other medical providers.
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Due to the complex needs many patients express, the psychologist often engages in care coordination and consultation outside of the context of clinic visits. Some families need additional guidance about getting connected with local mental health resources as well as education regarding evidence-based treatment strategies for specific problems we often encounter, such as selective mutism, intellectual disability, and autism.
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Psychological assessments are just one of many forms of evaluation to take place at FORWARD clinic visit. Since onset of the COVID-19 pandemic, there has been a need for greater flexibility in terms of scheduling. As such, the program adopted a model in which many families can engage in a telehealth evaluation with the psychologist at a scheduled time prior to the on-site clinic visit.
Nutritional Health
Why is This Domain Important?
How Do We Approach Evaluation?
Nutrition and Dietary Tips and Pearls of Wisdom
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There is no special “Fontan diet.” For the majority of our patients, we recommend a diet to optimize cardiovascular health that includes fruits, vegetables, whole grains, low-fat dairy, and lean protein sources in addition to limiting food sources of added sugars, sodium, and saturated/trans fats and including food sources of fiber, unsaturated fat, and omega 3 fatty acids. This dietary pattern is no different than what is recommended in the USDA’s dietary guidelines.
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For cyanotic individuals, maintaining sufficient iron stores to optimize hemoglobin production is important. Iron supplementation is often recommended if hemoglobin levels appear relatively low in proportion to oxygen saturation, or if laboratory data support low iron stores [37].
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For patients with PLE, medical therapy is of primary importance, and diet alone does not treat the condition [38]. Nevertheless, in some cases we also recommend a very low-fat (< 10% of calories, 20–30 g fat), high protein (> 2 g/kg) diet with the addition of MCT oil for extra calories and essential fatty acid supplementation. It is important to note that this low-fat diet should only be used during acute PLE flares and not long term as we have seen patients struggle to gain weight when following a low-fat diet for a prolonged period of time.
Exercise and Activity
Why is This Domain Important?
How Do We Approach Evaluation?
Exercise and Activity Related Tips and Pearls of Wisdom
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One of the most common misconceptions heard from patients and families is “I’m not allowed to play sports” or “I’m not allowed to lift weights.” The exercise training session focuses on advising patients and their families on the benefits of safe and appropriate exercise as opposed to what activities to avoid (highly isometric exercises). Families are often very surprised and excited to learn that their child can actually exercise more than previously thought and the patients are often very excited to learn they can use that treadmill in the basement or lift light weights!
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Exercise is medicine for the Fontan circulation [43]. Determining the ideal type and proper “dosage” of exercise that leads to the most valuable personalized result for any one individual, still requires further exploration. Nevertheless, general exercise and activity are to be strongly encouraged and is a focus of much conversation in our FORWARD clinic encounters.
Additional Collaborative Institutional Programs
What is It Like to Come to the Fontan FORWARD Multidisciplinary Clinic?
The Mechanics of an Evaluation
Clinical domain | Testing | Frequency of surveillance? |
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Blood Laboratories | Complete blood count with differential | At each visit |
Comprehensive metabolic panel (includes electrolytes, BUN and creatinine, calcium, liver function tests, total protein, albumin) | At each visit | |
Cystatin C | At each visit | |
Gamma-glutamyl transferase | At each visit | |
Parathyroid hormone | At each visit | |
25 OH Vitamin D | At each visit | |
Brain natriuretic peptide | At each visit | |
IgG Immunoglobulin | At each visit | |
Alpha feto-protein | When imaging reveals suspicious hepatic structure and routinely in adolescence | |
Stool alpha-1-antitrypsin level | When there is low serum albumin levels; suspicion of, or monitoring for PLE | |
Cardiovascular | Electrocardiogram | At each visit |
Echocardiogram | At each visit | |
Holter monitoring | At each visit | |
Exercise stress test | At each visit. Without metabolic assessment starting at approximately age 7, with metabolic assessment approximately age > 9 years | |
Six-minute walk test | At each visit for young patients and for those unable to do full exercise test with metabolic assessment | |
Cardiac MRI | As indicated based on clinical needs, and routinely performed every 2-–3 years when achievable without sedation (typically > age 11 years) | |
CT angiography | As indicated based on clinical needs and when MRI not feasible | |
Liver | Abdominal ultrasound imaging with Doppler | At each visit |
Ultrasound elastography | At each visit (ultrasound is our standard choice) | |
MRI elastography (no contrast) | At each visit, in those who have had prior MRI elastography for consistency in serial evaluation | |
MRI imaging with gadolinium-based contrast | In the presence of suspicious lesions on ultrasound | |
Immunology | Flow cytometry-based enumeration of T-, B-, and NK-cells | In those with absolute lymphocyte counts < 1000 cells/microliter |
Endocrinology | Dual X-ray Absorptiometry Scan (DXA) | At each visit |
8 AM Cortisol level | Patients with PLE on steroid therapy | |
Bone age X-ray | Only as clinically indicated, growth concerns | |
Thyroid studies (Thyroid stimulating hormone, free T4) | Only as clinically indicated, growth concerns and in those with PLE | |
Insulin-like growth factor 1 and Insulin-like growth factor binding protein 3 | Only as clinically indicated, growth concerns | |
Nutrition | 24-h dietary recall | At each visit |
Computerized dietary analysis of 3-day food record | When clinically indicated, growth concerns | |
Behavioral Health/Psychology | Behavioral assessment scale for children [BASC-3], Parent, and Self-Report | At each visit |
Pediatric Cardiac Quality of Life Inventory [PCQLI]), Parent and Self-Report | At each visit | |
PROMIS Global Health/Quality of Life | At each visit | |
Brief Pediatric Inventory for Parents (measure of parental distress related to child’s medical condition) | At each visit |