Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

Hinton, Robert B.; Prakash, Ashwin; Romp, Robb L.; Krueger, Darcy A.; Knilans, Timothy K.

doi:10.1161/jaha.114.001493

Cited by 158 publications

(211 citation statements)

References 67 publications

(88 reference statements)

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“…Intracardiac rhabdomyomas are seen in nearly 50% of patients [75]. They are one of the earliest TSC lesions to emerge as the cardiac rhabdomyomas can be detected on prenatal ultrasound as early as 22 weeks of gestation [11].…”

Section: Cardiac Manifestationsmentioning

confidence: 99%

Tuberous sclerosis: a review of the past, present, and future

Uysal¹,

Şahin²

2020

Turk J Med Sci

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Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in several organs. With the advent of genetic and molecular techniques, mutations in the TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with neurologic symptoms comprising a significant source of morbidity and mortality. In 2012, the diagnostic criteria for TSC were revised by the International Tuberous Sclerosis Complex Consensus panel, and genetic testing was incorporated into the guidelines. Early detection of cardiac rhabdomyomas or TSC-associated skin lesions can suggest the diagnosis and underlie the importance of clinical vigilance. Animal studies have demonstrated the benefit of using mTOR inhibitors for various symptoms of TSC, and they have been successfully translated into clinical trials with significant improvement in symptom burden. Subependymal giant cell astrocytomas, renal angiomyolipomas, and epilepsy are the three FDA-approved indications in relation to TSC for the use of everolimus, which is a first generation mTOR inhibitor. Rapamycin has been FDA approved for lymphangioleiomyomatosis. Other TSC symptoms that could potentially benefit from this class of medication are currently under investigation. TSC constitutes a unique combination of protean physical symptoms and neurobehavioral abnormalities. TSC associated neuropsychiatric disorders (TAND), including intellectual disability, mood disorders, and autism spectrum disorder, represent significant challenges but remain underdiagnosed and undertreated. The TAND checklist is a useful tool for routine use in the clinical evaluation of TSC patients. A multidisciplinary treatment plan, based on the specific problems and needs of individuals, is the key to management of this genetic condition. Ongoing research studies have been providing promising leads for developing novel mechanistic strategies to address the pathophysiology of TSC.

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Section: Cardiac Manifestationsmentioning

confidence: 99%

Tuberous sclerosis: a review of the past, present, and future

Uysal¹,

Şahin²

2020

Turk J Med Sci

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“…Major features present and possible diagnosis if 1 major or C2 minor features are noted [11]. The diagnosis of TS has practical implications for the family, so a molecular diagnosis can be requested for the fetus before the sighting of a rhabdomyoma, as there would be a 50 % chance of affection if a parent is affected.…”

Section: Clinical Diagnostic Criteriamentioning

confidence: 99%

Outcome of Antenatally Diagnosed Cardiac Rhabdomyoma: Case Series from a Tertiary Fetal Medicine Center in India

Ghaisas

Seshadri

Suresh

2015

Journal of Fetal Medicine

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The aim of this case series is to review our institution's experience with fetal cardiac rhabdomyoma, to document the clinical outcome and the incidence of associated tuberous sclerosis (TS) in these babies after birth. Eight cases with fetal cardiac rhabdomyoma were studied over a period of three years and the perinatal outcome was obtained. Out of these eight cases diagnosed antenatally, seven pregnancies continued till term and one woman opted for termination of pregnancy. There was one early neonatal death and of the six living, five developed TS with cutaneous and neurological manifestations. This association is similar with other larger multicentric studies and meta-analysis. Fetal cardiac rhabdomyoma is strongly associated with the development of TS in postnatal life, and the couples should be counseled regarding this association.

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“…However, these are the cardiac reasons that are ones of the leading causes of death in patients with TSC in the first decade of life. In symptomatic patients, the treatment option is a cardiac surgery, however, there is a high risk of mortality (13). Over recent years, more than dozen case reports of tumor regression after the application of the Everolimusu-mTOR inhibitor have been published (14,15) We present a case of a child with giant heart tumors (rhabdomyoma) in the course of TSC.…”

Section: Introductionmentioning

confidence: 99%

Giant cardiac tumours in the newborn: an unusual image

2018

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Primary heart tumors in the pediatric population are very rare and they range from 0.01% to 0.04%. Most are benign lesions of which about half are rhabdomyomas. Rhabdomyoma tumor diagnosis is associated with a 75-80% risk of TSC. TSC are characterised with numerous changes of hamartoma type located in the brain, kidneys, skin and other organs including in the heart. More than two thirds of newborns with TSC present rhabdomyomas in the heart. These changes may be asymptomatic, but in some cases they may cause heart failure, arrhythmias and death. We present a case report of a infant with giant rhabdomyomas tumors in the course of TSC.

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Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

Cited by 158 publications

References 67 publications

Tuberous sclerosis: a review of the past, present, and future

Tuberous sclerosis: a review of the past, present, and future

Outcome of Antenatally Diagnosed Cardiac Rhabdomyoma: Case Series from a Tertiary Fetal Medicine Center in India

Giant cardiac tumours in the newborn: an unusual image

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