Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Abstract

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors’ size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn’s family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas

“…Surgical intervention indicated in severe cases carries a high risk of mortality, potential complications and long stay in intensive care unit. This is evidenced in the fatal case of a 1‐week‐old patient taken to surgery due to the severity of multiple cardiac rhabdomyomas, where the intolerance to the additional hypotensive effect of the general anesthesia led to the lethal outcome (Frudit et al, 2019). Currently the ORACLE trial is in phase II and it would be the first randomized clinical trial assessing the efficacy of everolimus as first evidence‐based therapy for symptomatic cardiac rhabdomyomas (Stelmaszewski et al, 2020).…”

Everolimus treatment in a 3-month-old infant with tuberous sclerosis complex cardiac rhabdomyoma, severe left ventricular outflow tract obstruction, and hearing loss

“…Although the LV and the interventricular septum are the most common locations, as in our case, it may also appear in the atrial wall or the right ventricle in approximately 30% of the cases. 10 The masses are macroscopically hard, smooth-edged, unencapsulated, white-grey, and sizes may vary from millimetres to several centimetres. Cardiac rhabdomyomas occur in approximately 60% of the TSC cases, and therefore, in the presence of rhabdomyoma in echocardiography, the patient should be evaluated in terms of TSC.…”

Unmasking Antenatal Tuberous Sclerosis and 13 Years Retrospective Review of Its Diverse Presentations, Clinical-Imaging Follow Up and Learning the Latest Advances in Management

“…Cardiologists focused on their number, location, size and mass effects and excluded arrhythmogenic, obstructive and hemodynamic compromise secondary to them. The traditional belief was they can be conservatively waited and watched as the majority shall spontaneously regress within the first three years of life [1]. This probably leads to a misplaced sense of security while counseling the family.…”

“…These mutations may be spontaneous (70%) or inherited autosomally dominant [2,3]. In our index case, antenatal genetic testing was done and the benefits of this antenatal invasive testing were twofold: (1) it helped in accurate fetal counseling and making the family aware of the lifelong implications of this genetic syndrome-an informed decision was taken by the family to continue the pregnancy (2) it prepared the perinatal team including obstetrician, neonatologist, cardiologist and other caregivers to fully prepare for a 'high risk' pregnancy.…”