Unveiled after long overlook: A link between VACTERL association and large patent ductus arteriosus in adults
In a recent case report, a 27-year-old male patient presented to the cardiology outpatient department with a 3-day history of worsening breathlessness and cough. The patient's medical history included recurrent respiratory tract infections since childhood and a diagnosis of VACTERL association, a group of congenital malformations affecting multiple body systems.
The patient was diagnosed with a significant patent ductus arteriosus (PDA), a less common cardiac defect associated with VACTERL. A 2D echocardiogram revealed global hypokinesia, dilated cardiac chambers, a D-shaped left ventricle, severe ventricular dysfunction, and a grossly enlarged pulmonary artery. The left ventricular internal dimension at end-diastole was 6.4 cm, and at end-systole, it was 4.4 cm, indicating poor left ventricular function. The interventricular septum thickness at end-diastole was 1.43 cm. The ejection fraction was 30%, suggesting severely impaired pumping ability of the heart.
The patient's presentation as an adult with VACTERL association is rare. VACTERL is defined by the presence of at least three of the following malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal malformations, renal anomalies, and limb anomalies. In adult patients, VACTERL is infrequently reported since it is primarily diagnosed in infancy or childhood, but some adults with milder forms or incomplete diagnoses may be documented.
A chest radiograph showed gross cardiomegaly and prominent pulmonary vessels in both lung fields. A computed tomography pulmonary angiogram confirmed these findings, revealing gross cardiomegaly (cardiothoracic ratio ∼0.68), dilated main pulmonary artery (∼40.5 mm), right pulmonary artery (∼21 mm), and left pulmonary artery (∼30 mm).
An anomalous vascular connection, consistent with a patent ductus arteriosus (∼2.2 cm in width), was identified between the main pulmonary artery and the distal arch of the aorta. This finding is significant as it contributes to the patient's symptoms and poor heart function.
The patient exhibited symptoms consistent with New York Heart Association (NYHA) class IV, indicating severe functional limitations due to heart failure. Routine blood tests revealed mild relative neutrophilia and polycythemia in the patient.
Molecular studies suggest disruptions in Sonic Hedgehog signaling and genetic factors like mutations in ZIC3 and TRAP1 underlie VACTERL, but these insights focus on prenatal and early diagnosis rather than adult presentation. Data on adult prevalence is limited because VACTERL is mainly studied as a congenital pediatric condition.
This case highlights the importance of recognising and managing adult patients with VACTERL association, especially those with cardiac defects like PDA, to improve their quality of life and prevent further complications. Further research is needed to understand the long-term implications of VACTERL in adult patients and to develop effective management strategies.
The patient's cardiac defect, a patent ductus arteriosus (PDA), is not only a lesser-known complication of VACTERL association but also a significant contributor to his compromised health-and-wellness. His unfolding symptoms, consistent with New York Heart Association (NYHA) class IV, highlight his severe mental-health burden due to the debilitating heart failure. This case emphasizes the need for medical-conditions like neurological-disorders and mental-health issues in adult patients with VACTERL, a group of congenital malformations that are primarily studied in infancy or childhood. Further scientific research is crucial to understand the long-term health implications and develop effective management strategies for this less-researched area of health-and-wellness in adult patients with VACTERL association.
