Spontaneous Regression Of Cardiac Rhabdomyoma Presenting As Severe Left Ventricular Inlet Obstruction In A Neonate With Tuberous Sclerosis
Song, E. S., Jeong, K., Kim, G., Hwang, I. J., Lee, M. J., Cho, H. J., & Cho, Y. K. (2018). Spontaneous Regression of Cardiac Rhabdomyoma Presenting as Severe Left Ventricular Inlet Obstruction in a Neonate with Tuberous Sclerosis. Case reports in cardiology, 2018, 8395260. https://doi.org/10.1155/2018/8395260
View Original Source →Abstract
Cardiac rhabdomyoma can be subclinical or have a fatal presentation according to the onset age and involved site, size, and degree of invasion. Although most cardiac rhabdomyomas become smaller with time, emergency intervention is indicated when severe obstruction has occurred. In this report, we describe the spontaneous regression of a large cardiac rhabdomyoma (20.5 × 15.6 mm) presenting as severe left ventricular inlet obstruction in a neonate with tuberous sclerosis. Although a cardiac rhabdomyoma can be large enough to induce left ventricular inlet obstruction, conservative treatment without aggressive surgical intervention can be considered if the hemodynamic condition does not deteriorate.
Case Details
Disease Location
Heart
Personal Characteristics
Newborn male
Clinical Characteristics
At 31 weeks of gestation, a fetal echocardiogram revealed a large, solitary left ventricular mass and multiple right ventricular masses. At birth, a grade 2/6 mid-diastolic rumbling murmur was heard at the left sternal border. Chest x-ray showed mild cardiomegaly with increased pulmonary vascular markings. Echocardiographic examination revealed a large solitary tumor measuring 20.5 × 15.6 mm and occupying 75–90% of the mitral annulus. The tumor was attached to the anterior leaflet of the mv, causing lv inlet obstruction. Right atrial and rv dilatation and pressure overload secondary to pulmonary hypertension were observed. Mild mitral regurgitation (mr), left atrial (la) enlargement without lv dilatation, and multiple small tubers in both ventricles and the lv outflow tract were observed. At 5 h of age, paroxysmal supraventricular tachyarrhythmia at 240 bpm developed. Repeated doses of adenosine were administered intravenously to restore sinus rhythm. Digoxin was started for long-term management and the tachyarrhythmia resolved. Genetic analysis was performed to detect mutations of tuberous sclerosis complex (tsc) 1 and 2 genes. Ophthalmic examination revealed a jagged-edged, linear depigmented retina in the right eye. Chest x-ray showed regression of cardiomegaly and pulmonary vascular markings. Echocardiography demonstrated decreased mr and pulmonary hypertension and normal systolic lv function. The infant was discharged with only digoxin. At 3 months of age, a tonic-type seizure occurred and right frontal cortical tu- bers, multifocal white-matter lesions, and subependymal nodules were discovered on brain magnetic resonance imaging. Vigabatrin as an antiepileptic drug was started.
Remission Characteristics
At 40 days of age, symptoms and signs associated with lv inlet obstruction and tachyarrhythmia were absent. Echocardiography showed good lv function with decreased rhabdomyoma size (16.8 × 11.5 mm). At 6 months of age, echocardiography revealed a further decrease in rhabdomyoma size (13.8 × 12.1 mm); the lesion occupied a smaller portion (about 50%) of the mitral annulus. At 3 years of age, echocardiography showed a very small (6.5 × 2.3 mm), ellipse-shaped rhabdomyoma attached to the mv anterior leaflet without lv inlet obstruction
Treatment & Mechanisms
Proposed Remission Mechanisms
Cardiac rhabdomyomas are known to spontaneously regress in patients with tuberous sclerosis
Clinical Treatment
Adenosine digoxin vigabatrin topiramate