Porphyria cutanea tarda is the most common disorder of porphyrin metabolism in Europe and North America. The disorder is characterized by specific cutaneous lesions, associated systemic findings, and excessive accumulation and excretion of uroporphyrin and coproporphyrins. Reports of this condition associated with pregnancy are scarce in the literature. In this review, we present the case of a patient with porphyria cutanea tarda to illustrate the natural progression and complications of the disorder during pregnancy. Based in this report and a review of the published cases, pregnancy may exacerbate the cutaneous lesions of porphyria cutanea tarda during the first trimester. The incidence of diabetes, antinuclear antibodies, and hepatitis B and C are increased among them, making glucose tolerance and antibody testing mandatory. Newborns should be tested for the disorder during the neonatal period. Genetic counseling is advisable as well as teaching avoidance of provocative factors in affected children.
We describe a rare case of right atrial isomerism, levocardia, right-side stomach, obstructed supracardiac total anomalous pulmonary venous connection, double outlet right ventricle with complete atrioventricular septal defect and absent spleen. From the pulmonary venous confluence behind the atrium an ascending as well as a descending vertical vein communicated with the systemic venous system in the supracardiac as well as the infracardiac position. The pulsed and color Doppler examination of the individual pulmonary veins as well as of the vertical vein helped in making the diagnosis of obstructed total anomalous pulmonary venous connection. The diagnosis was made by fetal echocardiographic examination at 22 weeks of gestation and confirmed on postnatal echocardiography, cardiac catheterization, and at surgery.
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