Case of Prenatal Diagnosis of a Fetal Pulmonary Arteriovenous Malformation at Term.

In our case, the malformation was diagnosed prenatally at 40 weeks of gestation, and at the age of 14 days, the malformation was removed combined with a segmentectomy of the sixth segment of the left lung. Preoperative diagnostics focus on 3D-CT reconstruction and detailing of the anatomical variations of all arterial and venous vessels, as evident from our case. Treatment includes surgical removal or a minimally invasive interventional approach through the embolization of the vessel afferent to the malformation. After the operation, the child was discharged on the 30th day after birth in good condition and is developing normally. Early operative intervention is of great importance for the favorable outcome of the condition. In our case, this was hypoxemia with a saturation of 70-75%. The rare and often missed prenatal diagnosis of fetal AV malformation is significant for the adequate postnatal treatment and development of affected children.

Cardiac Myosarcoma in a Newborn Infant-A Case Report and Literature Review.

Background: Malignant cardiac neoplasms are extremely rare in neonates. Prenatal diagnosis is often not available. Initial symptoms can mimic non-cardiac diseases. We present a pre-mature newborn, birth-weight 2,480 g, 34 gestational weeks, which underwent cardiac surgery due to a cardiac tumor. Case Summary: This was a 3-rd pregnancy after two spontaneous abortions to a mother with thrombophilia, diabetes, hydramnios, and retroplacental hematoma. The baby was admitted to NICU with transitory respiratory failure and inborn infection; hence oxygen-supplementation and antibiotics were initiated. On day 11 a deterioration with tachypnea, high oxygen requirements, significantly increasing C-reactive protein values were noted. Chest radiographs were unremarkable. On day 18 a life-threatening condition with clinical symptoms of shock was identified. Echocardiography showed a large tumor formation in the right atrium, reduced blood flow in the right ventricle and pulmonary artery. On day 19 cardiac surgery was performed: a large tumor with a myxomatous appearance that occupied the cavity of the right atrium and infiltrated the annulus of the tricuspid valve was extirpated. The front wall was restored with a patch. Hemodynamics was temporarily stabilized. On the following day, ventricular fibrillation and asystole occurred. Despite life support efforts, the outcome was lethal. The histological result confirmed leiomyosarcoma of the right atrium and right ventricular hypotrophy. Conclusion: Inborn cardiac sarcomas are extremely rare. The prognosis is poor. Due to fast progression in the third trimester, they can be missed by fetal echocardiography in earlier pregnancy. The postnatal clinical course is aggressive, not specific until invasive infiltration or obstruction by the tumor mass occurred. In our case, the sarcoma mimicked an inborn infection, followed by nosocomial infection and septic shock. Despite low incidence, cardiac tumors should be kept in mind and echocardiography should be conducted if there are unclear symptoms with progressive deterioration during the neonatal period.

Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.

BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.