Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.

1255 Previously unknown ventricular arrhythmia in a globally delayed pediatric patient with tuberous sclerosis

Introduction We present a case of previously unknown ventricular ectopy in a pediatric patient who is globally delayed. As the patient is non-verbal, it is possible the patient may have ultimately experienced heart failure or a lethal arrhythmia were it not for the polysomnogram (PSG). Report of Case A four year old female with Tuberous Sclerosis (TS) was referred to our pediatric sleep center for snoring. Her past medical history includes intracardiac tumors, daily seizures, and global developmental delay. Initial PSG showed moderate obstructive sleep apnea defined by an obstructive Apnea-Hypopnea Index of 6.89 and no cardiac arrhythmias. Positive airway pressure titration study was performed one year later. Premature ventricular contractions were noticed during the setup while patient was awake. Intermittent couplets and triplets occurred during sleep as well as a prolonged run of bigeminy that initiated during a period of wake after sleep onset and persisted into non-rapid eye movement sleep. She was escorted to the emergency room where a 12-lead electrocardiogram (EKG) showed sinus rhythm with non-specific interventricular conduction delay and right ventricular hypertrophy. She was discharged with a Holter monitor and subsequent analyses was concerning for frequent ventricular couplets and non-sustained runs of ventricular tachycardia. She required admission to initiate anti-arrhythmic therapy. Imaging revealed stable intracardiac tumors, but revealed scarring within sites of intramyocardial lesions. She failed different anti-arrhythmic agents before settling with amiodarone. Conclusion Sleep disordered breathing (SDB) can cause or worsen cardiac arrhythmias. This case highlights the importance of routine surveillance in patients with both known cardiac disease who have or are at risk of having significant cardiac arrhythmias and suspected SDB. Additionally, current guidelines for TS patients recommend EKG once every 3 to 5 years. This case may also highlight the importance of increased cardiac surveillance in this population group.

Cardiac Defects

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic congenital cardiac anomalies, including septal defects, patent ductus, conotruncal defects, left ventricular outflow tracto obstruction, and congenital intracardiac tumors. The discussion on the differential diagnosis of various types of cardiac anomalies summarizes common causes, including teratogenic agents (pregestational diabetes, maternal phenylketonuria), chromosome anomalies (aneuploidy, recurrent microdeletions, and other copy number variants), and Mendelian disorders associated with multiple congenital anomalies. The chapter gives recommendations for evaluation and management. A clinical case presentation features an infant with a rhabdomyoma caused by tuberous sclerosis.

Republished: Mechanical thrombectomy for repeated cerebral tumor embolism from a thoracic sarcomatoid carcinoma

Cerebral embolism originating from intracardiac tumors represents a rare cause of stroke and has been documented in both adult and pediatric populations. We present a patient recently diagnosed with a right pulmonary hilum tumor, invading the pulmonary veins and the left atrium. Two consecutive episodes of large cerebral vessel occlusion in separate vascular territories occurred in the same day and were treated by mechanical thrombectomy. Embolic material retrieved on both occasions contained tumor fragments with peripheral endothelialization. To our knowledge, this is the first report with histological confirmation of cerebral embolism from an invasive extracardiac tumor.

Atypical size and location of a right atrial myxoma: a case report

Primary intracardiac tumors are rare and approximately 50-55% are myxomas. The majority of myxomas are located in the left atrium. Here We report a case of a large myxoma in the right atrium, which is an uncommon location for this type of tumor who underwent operative intervention with excision of a 9x6 cm multilobulated mass. In this case report, we emphasize the rarity of large myxomas in the right atrium and the difficulty of differential diagnosis given their dimension and location.

Atypical clinical presentation of right atrial myxoma: a case report

Primary intracardiac tumors are rare and approximately 50% are myxomas. Majority of myxomas are located in left atrium. Most of myxomas are attached to inter-atrial septum and have variable clinical presentation depending on size, location and mobility of the tumor. We report a case of large myxoma in the right atrium with atypical clinical presentation and location for this type of tumor.