Adult VACTERL association, previously undervalued, revealed through a substantial patent ductus arteriosus discovery
In a recent case presented at the cardiology outpatient department, a 27-year-old male patient exhibited signs of worsening breathlessness and cough, leading to a diagnosis of dilated cardiomyopathy and severe pulmonary artery hypertension. The patient's medical history included recurrent respiratory tract infections since childhood, and further investigations revealed the presence of a VACTERL association.
VACTERL association, a group of congenital malformations affecting multiple body systems, is typically diagnosed in neonates and infants. However, adult presentations are rare. Common symptoms of VACTERL association include vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. In the noted case, the patient presented with vertebral, cardiac, and renal anomalies.
The cardiac examination revealed a left ventricular internal dimension at end-diastole of 6.4 cm, indicative of dilated cardiomyopathy. The ejection fraction was 30%, and the interventricular septum thickness at end-diastole was 1.43 cm. The left ventricular internal dimension at end-systole was 4.4 cm. A 2D echocardiogram also revealed global hypokinesia, dilated cardiac chambers, a D-shaped left ventricle, severe ventricular dysfunction, and a grossly enlarged pulmonary artery.
Further investigations, including a chest radiograph and CT pulmonary angiogram, showed gross cardiomegaly and prominent pulmonary vessels in both lung fields. The CT pulmonary angiogram also revealed a dilated main pulmonary artery, right pulmonary artery, and left pulmonary artery. An anomalous vascular connection, consistent with a patent ductus arteriosus, was identified between the main pulmonary artery and the distal arch of the aorta.
The patient's routine blood tests revealed mild relative neutrophilia and polycythemia. The patient was classified as New York Heart Association (NYHA) class IV, indicating severe functional limitations.
Despite the rarity of adult-specific data on VACTERL association, the best understanding comes from pediatric cohorts and case series. Adults with VACTERL association often carry forward the congenital anomalies treated or managed during childhood, sometimes presenting with long-term sequelae rather than new symptoms.
The prevalence of VACTERL association in adult patients is not well defined, but pediatric data suggest that approximately 25.8% of patients with esophageal atresia, a common component of VACTERL, may have the association. The prevalence of VACTERL association is estimated at 1 in 7,000-40,000 live births, with significant variation.
This case highlights the importance of considering VACTERL association in the differential diagnosis of unexplained cardiac and respiratory symptoms in adults, especially those with a history of congenital anomalies or recurrent infections. Further research is needed to better understand the prevalence, presentation, and management of VACTERL association in adult patients.
Science and health-and-wellness professionals must be aware of the potential for VACTERL association, a group of congenital malformations, in the diagnosis of unexplained cardiac and respiratory symptoms in adults, particularly those with a history of congenital anomalies or recurrent infections. Medical conditions associated with VACTERL can impact cardiovascular health, leading to dilated cardiomyopathy and severe pulmonary artery hypertension, as demonstrated in the presented case.
