Emergency and critical care physicians should always consider the diagnosis of congenital heart disease in adult patients with Down syndrome with new onset shortness of breath [1–4]. Down syndrome (trisomy 21) is the most common autosomal chromosomal abnormality, affecting 13–22 of every 10,000 live births [5–7]. With life expectancy for these patients having increased from 12 years during the 1940s to 60 years currently, they are more frequently seen in adult emergency departments [8, 9]. The prevalence of congenital heart disease among Down syndrome patients is significant, reported in the literature as 23–58% [10–13]. Atrioventricular septal defects (ASVD, also called endocardial cushion defects), which were found in our patient, are among the most common [7, 10, 11]. The pathogenesis of these defects is unknown, but overexpression of collagen type VI is thought to play a role [9, 14]. Notably, 66% of all patients with ASVD also have Down syndrome, so this is an important association for emergency physicians to recognize [10, 15]. Though our patient was Hispanic, recent research has suggested that Black infants with Down syndrome actually have the highest risk of ASVD, four times that of Hispanic infants, and twice that of Caucasian infants .
Once our patient had the diagnosis of pulmonary embolism excluded with a negative CT scan of the chest, bedside ED echocardiography was a useful tool to diagnose his ASD, VSD, bicuspid aortic valve and pulmonary hypertension, which facilitated cardiology evaluation and admission. The majority of adults with significant congenital cardiac disease present to the Emergency Department with symptoms related to cardiac arrhythmias, congestive heart failure, syncope, aortic dissection, endocarditis and pulmonary hypertension . Our patient had shortness of breath, probably related to pulmonary hypertension that resulted from a chronic left-to-right shunt through his ASD and VSD. Our patient had elevated right ventricular pressure and volume overload with a dilated right ventricle with tricuspid regurgitation. Notably, elevated right ventricular systolic pressure may be used to estimate pulmonary artery systolic pressure (as no pulmonic stenosis was present) . Our Emergency Department bedside estimate of RVSP, 45.4 mmHg, was close to the formal Cardiology estimate of RVSP, 41–46 mmHg, reinforcing the potential efficacy of ED bedside echocardiography for cardiac applications. However, fair to moderate interrater reliability (kappa of 0.41) of emergency physician performed versus cardiology performed echocardiography evaluation of IVC inspiratory collapse in non-intubated patients to estimate central venous pressure has been reported . Bedside echocardiography was a useful diagnostic tool to help alter our patient’s management by recognizing the structural cardiac defects and obtaining formal Cardiology consultation. In addition, we limited giving the patient intravenous fluids once we recognized that he had pulmonary hypertension and elevated right atrial pressure with increased intravascular volume.
As many Down syndrome patients presenting to the emergency department, particularly those not accompanied by a parent or caregiver, may not be able to provide a detailed history, thorough physical examination is crucial for swift and appropriate diagnosis and disposition . Bedside ED echocardiography may be a valuable addition to the physical exam. In our patient, a holosystolic murmur on cardiac exam provided a diagnostic clue that we were able to quickly, effectively, and non-invasively investigate further with echocardiography. Rapidly identifying an adult patient with ASD, VSD, bicuspid aortic valve and pulmonary hypertension in the Emergency Department or Intensive Care Unit can expedite the important cardiology and or cardiothoracic surgical consultation that the majority of these patients will require.
Advanced echocardiography evaluation of patients for congenital heart defects and pulmonary hypertension is an operator-dependant modality and emergency and critical care physician screening advanced echocardiography should always be followed by formal Cardiology echocardiography examination.