Heterotaxia without congenital cardiac defects in dilated cardiomyopathy

History and outpatient investigation: A 61-year-old woman presented with a six-month history of chest pain and shortness of breath on normal activity. The past medical history included hypertension treated with ACE inhibitors. While still an outpatient a diagnosis was made of cardiomyopathy with left atrial and ventricular dilatation, systolic and diastolic heart failure, moderate mitral valve regurgitation and newly documented atria] fibrillation. Investigation: Right heart catheterization was carried out via the right femoral vein. The inferior vena cava was found to be on the left, none on the right. Venous inflow was via a dilated hemiazygos vein, a persistent left superior vena cava and a markedly dilated coronary sinus into the right atrium. The hepatic veins were also directly connected to the right atrium, as was shown by retrograde perfusion during a venogram. Coronary heart disease was excluded by angiography, but a right heart catheterization was not possible because of the atypical venous connections. Ultrasound examination revealed abdominal situs inversus and polysplenia. Magnetic resonance imaging of the thorax demonstrated bilateral bilobar lungs and bilateral hyparterial bronchi. Diagnosis, treatment and course: Heterotaxia with anomalous systemic veins and visceral defects was revealed during a diagnostic work-up, which was indicated by the finding of a dilated cardiomyopathy with chronic atrial fibrillation, moderate mitral valve regurgitation and arterial hypertension. Arterial hypertension and heart failure were successfully treated by medication. Attempts at rhythm control were unsuccessful. Safety measures were established to prevent thromboembolic complications and endocarditis. Conclusion: Congenital anomalies of the systemic veins in adults are often discovered incidentally, because they are usually asymptomatic. They may cause diagnostic and therapeutic difficulties in cardiology, phlebology and surgery. These anomalies may increase the risk of thrombotic and thrombembolic events. Together With polysplenia and situs inversus they are phenotypical components of heterotaxia. They may have various clinical consequences and may occur spontaneously or may be familial.