Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Lee, Elizabeth; Mahani, Maryam Ghadimi; Lu, Jimmy C.; Dorfman, Adam L.; Srinivasan, Ashok; Agarwal, Prachi P.

doi:10.1007/s00247-017-4027-2

Cited by 19 publications

(25 citation statements)

References 50 publications

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“…However, patients with CNC showed higher recurrence rates (10‐21% vs 4‐7% for isolated myxomas) . Reasons for relapses include inadequate resections, intraoperative implantation of parts of the tumor, and multi‐centric tumor location . In our study, the rate of multiple cardiac myxomas in CNC was significantly higher than that of isolated cardiac myxomas (30% vs 11.17%, P < 0.05).…”

Section: Discussioncontrasting

confidence: 44%

“…[30][31][32][33][34][35][36][37][38] Reasons for relapses include inadequate resections, intraoperative implantation of parts of the tumor, and multi-centric tumor location. 29,30,37 In our study, the rate of multiple cardiac myxomas in CNC was significantly higher than that of isolated cardiac myxomas (30% vs 11.17%, P < 0.05). The recurrence rate after resection of cardiac myxomas in CNC was significantly higher than that of isolated cardiac myxomas (30% vs 3.01%, P < 0.05).…”

Section: Discussioncontrasting

confidence: 40%

“…In contrast to isolated cardiac myxomas, cardiac myxomas in CNC occur in the second or third decade . They are often simultaneously present in multiple heart chambers, and tend to recur both at the initial resection site and/or at distant sites after resection …”

Section: Discussionmentioning

confidence: 99%

“…14,19,20,26 They are often simultaneously present in multiple heart chambers, and tend to recur both at the initial resection site and/or at distant sites after resection. 16,19,[27][28][29] In the largest genotyped series of CNC patients, 63% were female and 37% were male. 20 Our data revealed a 4:1 female preponderance in CNC cardiac myxomas.…”

Section: Discussionmentioning

confidence: 99%

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Clinical features and surgical results of cardiac myxoma in Carney complex

et al. 2019

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Background We sought to analyze clinical features and surgical results of 10 cases of cardiac myxomas in Carney complex (CNC). Methods Between January 2003 and December 2013, 10 patients with cardiac myxomas in CNC underwent surgical resection. Associated cardiac lesions included moderate and severe mitral regurgitation in two cases, and moderate tricuspid regurgitation in one case. Age, gender, the incidence of arterial embolism, the rate of multiple cardiac myxomas, and the recurrence rate after resections of cardiac myxoma were compared between isolated cardiac myxomas and cardiac myxomas in CNC. Results The incidence of cardiac myxoma in CNC was 1.74% (10/574). There were no deaths following surgery. There was one late death due to cerebral embolism 40 months following a reoperation (10%). A significant difference was found in the age, the incidence of arterial embolism, the rate of multiple cardiac myxomas, and the recurrence rate after resection of cardiac myxoma between cardiac myxoma in CNC and isolated cardiac myxoma (P < 0.05). There was no significant difference in gender between cardiac myxoma in CNC and isolated cardiac myxoma (P > 0.05). Conclusions Complex myxomas in CNS present at an earlier age, are more prevalent in women than in men, are more often multicentric, with a higher rate of arterial embolism and a high recurrence rate after resection. Close follow‐up for cardiac myxoma in CNC after surgery is necessary due to the high recurrence rate.

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Section: Discussioncontrasting

confidence: 44%

Section: Discussioncontrasting

confidence: 40%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Clinical features and surgical results of cardiac myxoma in Carney complex

et al. 2019

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“…Among them, rhabdomyosarcoma is the most common benign cardiac tumor in children. It can be the rst clinical manifestation of tuberous sclerosis and an important clue in the diagnosis of tuberous sclerosis[23].…”

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confidence: 99%

Tuberous Sclerosis Complex in Children with Apical Hypertrophic Cardiomyopathy as the First Manifestation: A Case Report and Literature Review

Han

Wen

et al. 2020

Preprint

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Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant hereditary neurodermal syndrome with diverse clinical manifestations, implicating multiple organs including the nervous system, skin, kidney, lung, heart, eyes and others. Most of the children are first diagnosed with seizures or facial hemangiofibroma, 45% to 60% of patients with TSC lesions can affect the heart resulting in cardiac rhabdomyoma. Although most cardiac rhabdomyomas are asymptomatic, some children may develop severe symptoms such as hemodynamic abnormalities, arrhythmias, and even heart failure in the neonatal period and early infancy. But Tuberous sclerosis complex with apical hypertrophic cardiomyopathy as the first manifestation is rare. Hence, physicians may delay diagnosis and treatment of TSC due to the lack of comprehensive thinking on this atypical presentation.Case presentation A 5-year-old girl was admitted to our hospital due to syncope for more than 10 days. When she was 8 months old, she was diagnosed with hypertrophic cardiomyopathy and received long-term oral propranolol treatment. After her admission, a thorough examination was performed. Heart exam revealed the revelant problem. Brain MRI demonstrated mutiple nodules in bilateral frontal parietal occipital cortex, subcortical cortex and bilateral lateral ventricular margin consistent with TSC. Genetic analysis (high-precision clinical display PLUS, JiaJian Medicine Company) revealed that the patient had inherited the TSC2 mutation c.1343T> C (p.L448P) from her mother (heterozygous), who was clinically unaffected.Conclusions: This report highlights that TSC occurs in different ways. Given the possibility of insidious and atypical tuberous sclerosis, when apical hypertrophy or cardiac tumors are identified, it is recommended to broaden the systemic examination even including genetic testing to further determine the cause, in order to reduce the misdiagnosis rate of tuberous sclerosis.

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Differential diagnosis of cardiac tumors: General consideration and echocardiographic approach

Pino

Moreo

Lestuzzi

2022

J of Clinical Ultrasound

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Cardiac tumors may be primary (either benign or malignant) or secondary (malignant) and are first detected by echocardiography in most cases. The cardiologist often challenges their identification, the differential diagnosis and the best therapeutic approach. Malignant tumors have usually a poor prognosis, which may be significantly improved by appropriate and timely therapies. The echocardiographic aspects of benign and malignant cardiac tumors described in this article, along with a clinical evaluation may orient the differential diagnosis and aid in choosing the further steps useful to define the nature of the mass,

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Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Cited by 19 publications

References 50 publications

Clinical features and surgical results of cardiac myxoma in Carney complex

Clinical features and surgical results of cardiac myxoma in Carney complex

Tuberous Sclerosis Complex in Children with Apical Hypertrophic Cardiomyopathy as the First Manifestation: A Case Report and Literature Review

Differential diagnosis of cardiac tumors: General consideration and echocardiographic approach

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