ABSTRACT
Tuberous sclerosis (TS) is a potentially severe medical disorder that poses a life-threatening risk and can lead to drastic lifestyle changes. In infants and young children, the typical diagnostic criteria for this condition encompass cutaneous manifestations and seizures, and the development of cellular growths termed hamartomas, astrocytomas, myolipomas, and even carcinomas observed within the cardiac, cerebral, renal, and retinal tissues. The usual age of presentation varies widely, which affects the prognosis. We report a case of a four-month-old male patient who presented with early signs of TS. The patient showed signs of infantile spasms and seizures. On further examination, he had neurological, cutaneous, cardiac, and retinal manifestations, which pointed toward the diagnosis of TS. This case report emphasizes the importance of screening for TS at an early age due to the possibility of patients presenting earlier than the usual age of presentation. To the best of our knowledge, there is scarce data on this kind of early-onset signs of TS; therefore, we feel that it is imperative to start screening infants earlier to improve the prognosis and decrease the complications of this disease. The screening tests and the incidence of screening will vary based on the cost and availability of proper diagnostic and screening tests and the accessibility of efficient treatments.
ABSTRACT
Background Ventricular septal defects (VSDs) are the most common type of septal defects in early infants and are very complicated. This has paved the way for the development of new minimally invasive procedures for interventional cardiologists. This study presents our experience using duct occluders instead of conventional ventricular septal devices in the Department of Cardiology at Acharya Vinoba Bhave Rural Hospital (AVBRH) in central rural India. This study aimed to review success and complications and assess safety and its relation to age, sex, size of the VSDs, type of VSD, and types of devices used after transcatheter closure of perimembranous and muscular VSDs using various types of duct occluders. Methodology This retrospective study included patients who underwent percutaneous VSD device closure at the AVBRH between July 2017 and December 2020. We reviewed the patients' medical records to recognize imaging, clinical, and interventional data pre- and post-procedure and at the last follow-up. Results The success rate of VSD closure was 98.6%, one (0.7%) out of 81 females developed a complication due to device dislodgement, and one male aged six years (0.7%) out of 59 developed a post-procedural complication; hence, the total failure rate was 1.4%. The perimembranous type had no complication, and the muscular type had two (14.3%) unsuccessful procedures. Conclusion This study has concluded an impressive percentage of VSD closure, showing no mortality and low morbidity, using a percutaneous approach with different duct occluders. As the type of device used is not correlated with device failure and failure rate, duct occluders will be financially helpful in the closure of VSD in indicated patients.
ABSTRACT
INTRODUCTION AND IMPORTANCE: Myxoma is the commonest cardiac tumor in adults but is very rare in a newborn. The majority of myxoma arises from the interatrial septum. 75% of myxomas are found in the left atrium and 20% are found in the right atrium. Myxomas can be single or multiple. Multiple myxomas are usually associated with familial syndromes. Myxomas are generally not associated with another congenital heart defect except atrial septal defect. As myxomas are rare in newborns most of the knowledge is through various case reports. CASE PRESENTATION: We report a rare case of an 8-day-old neonate presenting with cyanosis and respiratory distress. Transthoracic echocardiography was suggestive of right atrial myxoma which was arising from the atrioventricular junction on the right side of an interatrial septum. It was associated with the total anomalous pulmonary venous connection. The patient underwent successful excision of myxoma and rerouting of the common venous chamber to the left atrium with an uneventful immediate postoperative course. CLINICAL DISCUSSION: Cardiac myxomas are rare in newborns and their association with TAPVC even rare. Our patient had single atrial myxoma with TAPVC. The significance of this association is not clear. This association is mostly by chance. Probably it is the first case reported of its kind. CONCLUSION: As myxomas are very rare in neonates, it is highly possible to miss other associated structural heart defects. Diagnosis of atrial myxoma can be suggested by echocardiogram but a definite diagnosis can only be confirmed by histology.