Adult Congenital Heart Disease: Advances in Diagnosis, Surgery, and Lifelong Care

The coarctation of the aorta is a congenital anomaly characterized by a local narrowing of the aortic lumen localized near the ductus arteriosus. Typically diagnosed in childhood, but it can remain until symptoms become evident. This aortic anomaly can also coexist with aortic valve stenosis. In our case report, we present a 46-year-old male with chest pain, dyspnea, and a significant blood pressure gradient between upper and lower extremities. Diagnostic examination included transthoracic echocardiography and computerized tomography. This diagnostic imaging showed narrowing of the aortic lumen with a residual lumen dimension of 3 mm and severe aortic stenosis. The patient underwent a complex surgical procedure, replacement of the aortic valve and reconstruction of the aorta. An extra-anatomic ascending-to-descending aortic bypass was constructed using a 20 mm Dacron graft, combined with mechanical aortic valve replacement. The operation was performed through median sternotomy with two arterial canula in the femoral artery and in the aorta, and one venous canula in the right atrium. Two canulae are placed for the safe performance of cardiopulmonary bypass. The patient was discharged at home without complication. This case highlights that a single surgical procedure may represent a definitive treatment of a complex problem with good short-term results. Full article

Background: Patients with single-ventricle physiology represent a high-risk group for heart transplantation. Due to complex anatomical and physiological challenges, including multiple prior sternotomies, pulmonary artery abnormalities, and systemic consequences of altered circulation, they represent both a surgical and a clinical challenge. We aimed to analyze perioperative challenges, as well as early and long-term complications, in this specific group of patients. Methods: We performed a retrospective data analysis of a high-volume heart transplant center, focusing on patients with single-ventricle physiology who were scheduled for heart transplantation due to end-stage heart failure. We retrospectively analyzed the period from the beginning of the transplant program in November 1985 to the end of November 2024. Results: Among 1553 transplanted patients (adults and children), 29 were transplanted due to congenital heart disease (congenital valvular disease not included). In this group, nine patients were transplanted due to end-stage heart failure in the course of single-ventricle physiology. Age at transplantation ranged from 7 to 31 years (median, 17 years), and body weight ranged from 15 to 69 kg (median, 47.9 kg). All nine patients referred for heart transplantation presented with single-ventricle physiology. Their underlying congenital heart defects were heterogeneous and included hypoplastic left heart syndrome (HLHS), double-outlet left ventricle (DOLV), transposition of the great arteries (TGA) with associated ventricular septal defects (VSDs), atrial septal defects (ASDs), valvular abnormalities such as tricuspid and or pulmonary valve atresia or stenosis, systemic or atrioventricular valve regurgitation, and vascular abnormalities, including right-sided aortic arch, aortic coarctation, and pulmonary artery hypoplasia, stenosis, or occlusion, as well as associated pulmonary vascular abnormalities such as left pulmonary artery stenosis and MAPCAs. All patients had previously undergone staged palliative procedures, including Norwood, Hemi-Fontan, Fontan, bidirectional Glenn, modified Blalock–Taussig shunts, Bjork–Fontan, or pulmonary artery banding, often with repeated interventions such as balloon angioplasty, stent placement, or MAPCA closure. Extracardiac comorbidities were common and included coagulopathies, protein-losing enteropathy, hepatic dysfunction, and chronic venous insufficiency. Preoperative functional status was markedly impaired in all patients (NYHA III-IV, INTERMACS 3-4), with severely reduced exercise capacity and thrombotic events in several individuals. Perioperative transplant surgical strategies included femoral cannulation in four cases and standard aortic and caval cannulation in five cases. Pulmonary artery reconstruction was required in all patients. Extended donor pulmonary arteries were applied in eight cases, while a bifurcated Dacron prosthesis was utilized in one patient. Perioperative mortality was 33%, with three deaths attributed to bleeding and hemodynamic instability, while overall mortality was 44% including one late death unrelated to transplantation. Protein-losing enteropathy, although persistent in the immediate postoperative period, resolved in all surviving patients, underscoring the transformative impact of transplantation. Conclusions: These findings emphasize the importance of individualized surgical planning, extended donor pulmonary artery harvesting, and careful preoperative coordination. Heart transplantation remains a viable and life-extending option for selected single-ventricle patients, despite the significant technical and clinical challenges involved. Full article

Background: In cardiology, vasoregulation is one of the most important targets of pharmacotherapy. SOMNOtouch™-NIBP (SOMNOmedics AG, Randersacker, Germany) is a cuffless device designed for continuous, non-invasive blood pressure measurements, and it appears to be ready for use in infants and children with congenital heart disease. For infants, minor methodological modifications are required due to their small body size. Methods: Using this device, we demonstrate fluctuations in diastolic blood pressure in three patients: an infant with hypoplastic left heart syndrome after Norwood stage 1 and 2 operations; an infant with Tetralogy of Fallot with heart failure due to pulmonary overcirculation after an aorto-pulmonary shunt implantation; and a 13-year-old girl with chronic cyanosis due to a congenitally corrected transposition of the great arteries (ccTGA) with a ventricular septal defect and pulmonary stenosis. The measurement procedures are completely non-invasive and feasible in an outpatient setting. Results: The results demonstrate strong correlations between blood pressure and oxygen saturation levels as well as heart rate variability. We discuss our results in relation to current concepts of hypoxic pulmonary/systemic vasoconstriction and hypoxemia-related pathways. Conclusions: The cuffless device for continuous, non-invasive blood pressure measurement seems to be useful for infants with and without congenital heart defects who receive pharmacotherapies that modulate vasoregulation. These patients should also be non-invasively monitored for safety reasons and for a better understanding of their pathophysiology. Full article

(1) Background: The systemic right ventricular (SRV) dysfunction and severe tricuspid regurgitation (TR) remain significant challenges in patients with congenitally corrected transposition of the great arteries (ccTGA) or following atrial switch procedures. Currently, there is no established, evidence-based medical therapy specifically designed for SRV failure, and treatment approaches are largely extrapolated from left ventricular heart failure (HF) guidelines. This therapeutic gap highlights the need for tailored pharmacologic strategies and optimized perioperative management in this unique population. The optimal timing of surgical intervention and the role of modern HF therapy are still under active investigation. (2) Methods: We present a case series of four patients (three adults and one child) with SRV dysfunction and severe TR, who underwent staged treatment consisting of optimized medical therapy followed by surgical tricuspid valve (TV) replacement. Medical therapy included positive inotropes, sacubitril/valsartan, sodium-glucose co-transporter 2 inhibitors (iSGLT2), beta-blockers, mineralocorticoid receptor antagonists (MRAs), and loop diuretics. (3) Results: All patients demonstrated clinical and hemodynamic improvement prior to surgery, with an increase in systemic ventricular ejection fraction (SVEF > 40%) and cardiac index. TV replacement was performed with favorable early postoperative outcomes and preserved ventricular function at mid-term follow-up. No mortality or major adverse events occurred during follow-up. One case of acute cystitis was associated with dapagliflozin. In all patients, postoperative SVEF remained >40%, and no recurrence of significant TR was observed. (4) Conclusions: A stepwise approach combining modern heart failure therapy and elective TV replacement in patients with SRV dysfunction and TR is safe and effective. Preoperative optimization leads to improved ventricular function and may enhance surgical outcomes. These findings support the integration of contemporary pharmacotherapy in the management strategy for SRV failure. Full article

Background: Balloon aortic valvuloplasty is a procedure for treating aortic stenosis, as well as being a preliminary step before transcatheter aortic valve implantation. Balloon aortic valvuloplasty requires inserting a balloon catheter into the aortic valve and repeatedly inflating it to widen the narrowed valve. With a wide range of equipment, operators rely on manufacturer data to guide the balloon use during surgery. However, such data can have variations of up to 10%, which can affect the procedures’ efficacy. Methods: In this paper, we report a bench-top proof-of-concept, automated, non-contact optical system that combines a linear delta robot (ROMI) equipped with a bright-field microscopy system, image stitching, and passive autofocusing algorithms to measure the diameters of aortic valvuloplasty balloons inflated using clinically relevant pressures. The system also introduces a laser projection system, enabling the use of passive autofocus algorithms to allow measuring transparent balloons. We evaluate three balloon brands (TRUE Dilatation, Edwards, and Z-MED II) across commonly used sizes and compare the measured diameters with vendor specifications. The developed system allows us to systematically determine the balloons’ diameters with submillimeter-level accuracy. Results: The experimental data shows that the TRUE Dilatation balloon presented the smallest deviations from the manufacturers’ data, even though the 22 and 24 mm balloons exceeded the 1% tolerance by +2.26% (over-inflation) and −1.56% (under-inflation), respectively. The Edwards Lifesciences and Z-MED II balloons presented inflation diameter variations ranging from −5.97% to + 8.81%, which led to a deviation of the specified balloon diameter of 1.76 mm. The standard error value obtained within our measurements revealed that the balloon diameters were consistent despite multiple inflations and were also resilient to repeated inflations up to the rated burst pressure. Conclusions: These results demonstrate the potential of the system presented herein to be adapted for in situ, contactless pre-operative balloon assessment in clinical settings. Full article

Background/Objectives: Heart failure (HF) poses a major challenge in managing adults with congenital heart defects (ACHD). Emerging evidence suggests that HF in ACHD increases the risk of underweight due to heightened metabolic demands, gastrointestinal complications, and psychological factors such as anxiety and depression. Despite its critical implications, few studies have examined this association. This study evaluates the relationship between HF and underweight—defined as a body mass index (BMI) < 18.5—in ACHD. Methods: The Pathfinder-CHD Registry is a prospective, observational, web-based HF registry including ACHD with manifest HF, history of HF, or significant risk for HF. It documents congenital diagnoses, HF type, comorbidities, and treatments. Patients were categorized by BMI into mild (17.00–18.49), moderate (16.00–16.99), and severe (<16.00) underweight. Results: As of September 2024, the registry enrolled 1420 adults (mean age 31.8±11.3 years; 49.2% female). Underweight was present in 59 patients (4.2%): 62.7% mild, 18.6% moderate, and 18.6% severe. Among the remaining 1361 patients, 52.8% had normal weight, 32.8% were overweight, and 14.2% were obese. Women had significantly lower metabolic body weight than men (p = 0.002). Underweight correlated with younger age (p < 0.001) and CHD type (p = 0.02). Notably, 42.9% of underweight patients had cyanotic CHD. Conclusions: Underweight is an underrecognized problem in ACHD with HF. Adults with complex CHD or connective tissue disorders are disproportionately affected. Underweight should be seen as an alarm sign requiring personalized, multidisciplinary management, including nutritional support, tailored therapy, and close monitoring to improve outcomes. Full article