Natural history of cardiac rhabdomyoma in infancy and childhood

doi:10.1016/0002-9149(90)91109-J

The American Journal of Cardiology

Volume 66, Issue 17, 15 November 1990, Pages 1247-1249

https://doi.org/10.1016/0002-9149(90)91109-J Get rights and content

Abstract

Although spontaneous regression of cardiac rhabdomyoma has been reported, prognosis is still considered to be poor and surgery continues to be indicated. The experience with rhabdomyoma diagnosed in live infants over a 20-year period was reviewed. Diagnosis by angiography or echocardiography was accepted only if multiple tumors were present or if tuberous sclerosis was also diagnosed. Nine patients (3 diagnosed prenatally and the remaining 6 at age <8 months) were identified as having a total of 24 tumors. Measurements in 2 planes demonstrated at least some evidence of regression in 24 patients (100%), with 20 of 24 having complete resolution. One patient required delayed surgery for excision of a subaortic ridge that appeared at the site of a resolved tumor. Our findings suggest that pediatric cardiac rhabdomyoma is most often a benign condition in which spontaneous regression is the rule. Surgery is recommended only for patients with refractory dysrhythmias or severe hemodynamic compromise.

References (25)

A Nadas et al.
Cardiac tumours in infancy
Am J Cardiol
(1968)
F Von Recklinghausen
Verhandlungen der Gesellschaft fur Geburtshulfe Herr V. Recklinghausen legt der Gesellschaft ein Herz voneinen Neugeborenen
Monatsschr Geburtsk
(1862)
R Shaher et al.
Clinical presentation of rhabdomyoma of the heart of infancy and childhood
Am J Cardiol
(1972)
J Fenoglio et al.
Cardiac rhabdomyoma: a clinicopathologic and electron microscopic study
Am J Cardiol
(1976)
E Arciniegas et al.
Primary cardiac tumors in children
J Thorac Cardiovasc Surg
(1980)
A Simcha et al.
Primary cardiac tumours in childhood
Arch Dis Child
(1971)
CM Bloor
Cardiac Pathology
R Bini et al.
Investigation and management of primary cardiac tumors in infants and children
J Am Coll Cardiol
(1983)
S Houser et al.
Rhabdomyoma of the heart: a diagnostic and therapeutic challenge
Ann Thorac Surg
(1980)
I Reece et al.
Cardiac Tumors
J Thorac Cardiovasc Surg
(1984)

H Khattar et al.

Les tumeurs cardiaques chez l'enfant. Rapport de 3 observations avec evolution spontanement favorable

Arch Mal Coeur

(1975)

J Isnard-Baladi et al.

Tumeurs cardiaques a revelation neonatate

Arch Mal Coeur

(1985)

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Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity. The majority of patients present with a constellation of clinical signs and symptoms, most prominently central nervous system manifestations including epilepsy, cognitive impairment and autism spectrum disorders, cutaneous, cardiac, renal and ophthalmic manifestations. Epilepsy affects 70% – 90% of patients, representing the primary neurological feature and 1 of the foremost clinical findings of the disorder. Cardiac rhabdomyomas are the most frequent cardiac manifestations, appearing as isolated or multiple lesions.
Herein, we present 2 patients diagnosed with tuberous sclerosis. A 3-month-old male patient with cardiac rhabdomyomas and hypopigmented macules and a 19-month-old male patient with partial epilepsy and mild psychomotor retardation. As brain lesions represent some of the most prevalent clinical features and early onset seizures are associated with more severe cognitive, function delay, through this article we hope to emphasize the potential role MRI can play in the diagnostic workup of TSC, to ensure a more timely diagnosis, thus modifying the natural course of the disorder and its prognosis.
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Citation Excerpt :
They may be asymptomatic or result in congestive heart failure from obstruction. Arrhythmias have also been reported.15 Rhabdomyomas are most commonly located within the ventricles attached to the myocardium but are less commonly located in the atrioventricular groove.9,12
Cardiac Tumors: JACC CardioOncology State-of-the-Art Review
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There is no delayed gadolinium enhancement exhibited by rhabdomyomas (42). Rhabdomyomas typically undergo spontaneous regression; therefore, serial echocardiographic follow-up is key and often sufficient (49). Surgery is usually reserved for patients with intractable arrhythmias or heart failure (31).
Cardiac masses are rare, but remain an important component of cardio-oncology practice. These include benign tumors, malignant tumors (primary and secondary) and tumor-like conditions (e.g., thrombus, Lambl’s excrescences, and pericardial cyst). The advent of multimodality imaging has enabled identification of the etiology of cardiac masses in many cases, especially in conjunction with information from clinical settings. This paper provides a comprehensive review of the epidemiology, clinical presentation, imaging, diagnosis, management, and outcomes of cardiac masses.
Tuberous sclerosis complex
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Tuberous sclerosis complex (TSC) is a neurocutaneous disorder of cellular differentiation and proliferation that affects multiple organ systems. The predominant neurological manifestations are epilepsy and intellectual impairment. TSC has autosomal dominant inheritance with variable penetrance and a high spontaneous mutation rate. The responsible genes on chromosomes 9 and 16 impart similar phenotypes although individuals with TSC2 mutations tend to exhibit a more severe phenotype. Impaired cellular interaction likely contributes to disrupted neuronal migration along radial glial fibers and abnormal proliferation of glial elements to form cortical tubers and areas of focal dysplasia. Abnormal proliferation results in neural lesions such as subependymal nodules, subependymal giant cell astrocytomas, and nonneural tumors such as cardiac rhabdomyomas and renal angiomyolipomas. Progress in understanding the involvement of tuberous sclerosis gene products in apoptosis and tumor suppression via the mechanistic target of rapamycin signaling has led to new approaches in treatment.
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Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. Rhabdomyoma is the most common cardiac tumor diagnosed in fetuses, neonates and infants, and is closely linked to TSC. Here we describe an autopsy case of right ventricular rhabdomyoma in TSC. The deceased was a 3-month-old male infant, and TSC with a cardiac tumor had been diagnosed before his death. Since the cardiac tumor had not been physically blocking the blood flow, he had not undergone surgical intervention. At autopsy, the patient’s height was 62 cm and his body weight was 6 kg. The heart weighed 37.3 g and the right ventricle was filled with the tumor. The tumor measured 2.1 cm × 1.6 cm, being a fusion of multiple tumors with several attachment sites to the myocardium. Histologically, the tumor was diagnosed as a rhabdomyoma, and was positive for mammalian target of rapamycin (mTOR). The brain weighed 795.0 g, without hydrocephalus. The cut surface of the brain revealed multiple cortical tubers and subependymal nodules. Through screening for the TSC1 (hamartin) and TSC2 (tuberin) genes, a nonsense mutation, c.1108C>T:p.Gln370^∗, was detected in the TSC2 gene. Immediate cause of death was determined to be ventricular obstruction by a cardiac rhabdomyoma with insidious growth. This case highlights the need for forensic pathologists to perform a complete autopsy to determine the cause of sudden death with cardiac tumor, including genetic examination.
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MiscellaneousNatural history of cardiac rhabdomyoma in infancy and childhood

Abstract

Cardiac tumours in infancy

Am J Cardiol

Verhandlungen der Gesellschaft fur Geburtshulfe Herr V. Recklinghausen legt der Gesellschaft ein Herz voneinen Neugeborenen

Monatsschr Geburtsk

Clinical presentation of rhabdomyoma of the heart of infancy and childhood

Am J Cardiol

Cardiac rhabdomyoma: a clinicopathologic and electron microscopic study

Am J Cardiol

Primary cardiac tumors in children

J Thorac Cardiovasc Surg

Primary cardiac tumours in childhood

Arch Dis Child

Cardiac Pathology

Investigation and management of primary cardiac tumors in infants and children

J Am Coll Cardiol

Rhabdomyoma of the heart: a diagnostic and therapeutic challenge

Ann Thorac Surg

Cardiac Tumors

J Thorac Cardiovasc Surg

Les tumeurs cardiaques chez l'enfant. Rapport de 3 observations avec evolution spontanement favorable

Arch Mal Coeur

Tumeurs cardiaques a revelation neonatate

Arch Mal Coeur

Miscellaneous
Natural history of cardiac rhabdomyoma in infancy and childhood