A Case of Congenital Cardiac Defect with Double Inversion Anatomy

Background: The incidence of situs inversus is estimated at 1 in 10 000 births and the association with other complex cardiovascular malformations is generally much lower. We report the case of a congenital heart defect (CHD) with double inversion anatomy.

Case: A 4-weeks old newborn, without significant familial or personal history, was admitted for the evaluation of a CHD. At physical examination she presented pale and cyanotic skin, palpebral edema, moderate respiratory distress, a continuous heart murmur and mild hepatomegaly. Transthoracic echocardiography and cardiac CT recorded multiple and complex heart defects (abdominal and atrial situs inversus, levocardia, ventricular inversion: right side of the heart=left atrium+right ventricle and left side of the heart=right atrium+left ventricle, mitral atresia with left ventricular hypoplasia, pulmonary valve and artery atresia with ductal dependent pulmonary circulation, significant tricuspid regurgitation, ventricular septal defect, atrial septal defect) and vascular malformations (common origin of the coronary arteries, right-sided aortic arch with mirror pattern origin of supra-aortic vessels). Due to the complexity of the malformations that encounter a functional single ventricle physiology, surgical correction was impossible, therefore a palliative procedure was used: a modified Blalock-Taussig shunt.

Conclusions: The rarity of the case results from the complexity of the CHD which associated a double inversion anatomy: situs inversus and ventricular inversion, in association with other cardiac and vascular defects.