Bridging the gap in cardiac mass diagnosis: Advanced imaging, genetic associations, and biomarkers

Table 1 Genetic syndromes associated with primary cardiac tumors

Genetic syndrome	Cardiac tumor, primary	Gene mutation	Life stage	Location	Ref.
Tuberous sclerosis	Rhabdomyoma; Lipoma	TSC1 or TSC2	Pediatric	Ventricle; Atria/Pericardium	Winterkorn et al[24], Hinton et al[25]
Carney complex	Myxoma	PRKAR1A	Adult	Atrium/Ventricle	Maleszewski et al[26], Pitsava et al[27], Kuyama et al[28]
Familial myxoma	Myxoma	PRKAR1A	Pediatric	Atrium	Puntila et al[29]
Cowden syndrome	Lipomas; Hemangioma	PTEN	Adult	Atrium/Pericardium; Atrium	Ceresa et al[30], Lamanna et al[31]
Hereditary paraganglioma-pheochromocytoma syndromes	Paraganglioma	MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127	Adult	Atrium/Ventricle	Miraldi et al[32], Martucci et al[33], Carafone et al[34]
Beckwith-Wiedemann syndrome	Rhabdomyoma or angiofibroma or hamartoma	CDKN1C, H19, IGF2, KCNQ1OT1	Pediatric	Atrium/Ventricle	Reddy et al[35], Satgé et al[36], Longardt et al[37]
Birt-Hogg-Dube	Rhabdomyomas	FLCN	Pediatric	Ventricle	Toro et al[38], Bondavalli et al[39]
Neurofibromatosis type 1	Neurofibromas	NF1	Adult	Ventricle	Iino et al[40], Li et al[41]
Gorlin syndrome	Fibromas & rhabdomyomas	PTCH1	Pediatric	Ventricle	Szczałuba et al[8], Herceg et al[42]
Lynch syndrome	Pericardial carcinoma	MLH1, MSH2, MSH6, PMS2, EPCAM	Adult	Pericardium	Paolisso et al[43]