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[Neonatal cardiac rhabdomyoma: case report and clinico-epidemiologic considerations]
V Lima-Rogel1, A Torres-Montes, F Hernández-Sierra
1Del Hospital Central Dr. Ignacio Morones Prieto y de la Facultad de Medicina, UASLP, San Luis Potosí.
Insights
Pediatric rhabdomyoma, a rare primary cardiac tumor, is often linked to tuberous sclerosis. This case highlights a newborn with heart failure due to cardiac rhabdomyoma, underscoring the need for awareness and timely diagnosis.
Area of Science:
- Pediatric Cardiology
- Oncology
- Genetics
Background:
- Primary cardiac tumors are rare, with rhabdomyoma being the most common in children.
- Rhabdomyomas are frequently associated with tuberous sclerosis complex (TSC), occurring in 37-80% of cases.
- The incidence of TSC is approximately 1 in 40,000 live births.
Observation:
- A newborn presented with a pansystolic murmur, severe cardiomegaly, and signs of heart failure shortly after birth.
- Electrocardiogram revealed biventricular hypertrophy.
- Imaging studies (echocardiogram, MRI) identified multiple cardiac tumors within the ventricular walls and septum.
Findings:
- Histopathological examination of cardiac tissue confirmed the diagnosis of rhabdomyoma.
- Clinical and imaging findings, including seizures and hypopigmented skin macules, led to a diagnosis of tuberous sclerosis.
- The co-occurrence of cardiac rhabdomyoma and tuberous sclerosis was established in this neonate.
Implications:
- This case emphasizes the importance of early diagnosis and management of cardiac rhabdomyoma in neonates.
- Increased awareness and data on the incidence, diagnosis, prognosis, and treatment of these conditions are crucial, especially in regions with limited information.
- Prompt identification of associated conditions like tuberous sclerosis can guide comprehensive patient care and genetic counseling.
Abstract:
Primary cardiac tumors are very infrequent at all ages; the most frequent in the pediatric age is rhabdomyoma. This tumor is associated with tuberous sclerosis in 37 to 80%, with a frequency of 1 for each 40,000 live newborns. This case is about a newborn, who in the immediate postnatal period presented pansystolic murmur, grade IV cardiomegaly, electrocardiographic changes of biventricular hypertrophy and heart failure. Echocardiogram and magnetic resonance images showed several tumors in the septum and in ventricular walls; histopathology study of the heart, confirmed the diagnosis. The diagnosis of tuberous sclerosis was made clinically (seizures, hypomelanotic macules) and with the image of parenchymal hypodense areas. In our country there is little information about both diseases, that's why we made a review of the incidence, diagnosis, prognosis and treatment.