Siblings with Gorlin-Goltz syndrome associated with cardiac tumors

TY - JOUR

T1 - Siblings with Gorlin-Goltz syndrome associated with cardiac tumors

T2 - a case report and review of literature

AU - Wilke, Paula I

AU - Biermann, Daniel

AU - Grafmann, Maria

AU - Kozlik-Feldmann, Rainer

AU - Papingi, Dzhoy

AU - Sachweh, Jörg S

AU - Stute, Fridrike

AU - Olfe, Jakob

N1 - © 2023. The Author(s).

PY - 2023/7/5

Y1 - 2023/7/5

N2 - Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. Sixty-four percent of children with cardiac fibroma, the second most common benign cardiac tumor in children, have ventricular arrhythmias, affecting therapeutic management and risk profile of these children. We report on two siblings with cardiac fibromas whose clinical presentations differed depending on their locations and size of the tumors. The first child, a three-year-old girl, was diagnosed with a cardiac fibroma in the left ventricle at the age of 8 months after surviving resuscitation due to ventricular fibrillation. Secondary prophylactic implantation of an ICD was performed. On propranolol, no further malignant arrhythmias have occurred to date. The seven-month-old brother was diagnosed postnatally with a cardiac tumor adjacent to the right ventricle. A few weeks after birth, the boy had refractory supraventricular tachycardia and ventricular arrhythmia that only resolved with amiodarone. In genetic testing, Gorlin-Goltz syndrome was diagnosed in both children. Conservative pharmacological therapy is a therapeutic strategy for asymptomatic patients with cardiac fibromas. The anti-arrhythmic medication depends on the location of the tumor. Implantation of an ICD should be performed in cases of malignant arrhythmias. In rare cases, there is an association between cardiac tumors and genetic syndromes, such as Gorlin-Goltz syndrome. These should always be considered when such a tumor is diagnosed.

AB - Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. Sixty-four percent of children with cardiac fibroma, the second most common benign cardiac tumor in children, have ventricular arrhythmias, affecting therapeutic management and risk profile of these children. We report on two siblings with cardiac fibromas whose clinical presentations differed depending on their locations and size of the tumors. The first child, a three-year-old girl, was diagnosed with a cardiac fibroma in the left ventricle at the age of 8 months after surviving resuscitation due to ventricular fibrillation. Secondary prophylactic implantation of an ICD was performed. On propranolol, no further malignant arrhythmias have occurred to date. The seven-month-old brother was diagnosed postnatally with a cardiac tumor adjacent to the right ventricle. A few weeks after birth, the boy had refractory supraventricular tachycardia and ventricular arrhythmia that only resolved with amiodarone. In genetic testing, Gorlin-Goltz syndrome was diagnosed in both children. Conservative pharmacological therapy is a therapeutic strategy for asymptomatic patients with cardiac fibromas. The anti-arrhythmic medication depends on the location of the tumor. Implantation of an ICD should be performed in cases of malignant arrhythmias. In rare cases, there is an association between cardiac tumors and genetic syndromes, such as Gorlin-Goltz syndrome. These should always be considered when such a tumor is diagnosed.

KW - Male

KW - Child

KW - Infant

KW - Female

KW - Humans

KW - Child, Preschool

KW - Siblings

KW - Tachycardia, Ventricular/complications

KW - Basal Cell Nevus Syndrome

KW - Arrhythmias, Cardiac/complications

KW - Heart Neoplasms/complications

KW - Fibroma/complications

U2 - 10.1186/s13023-023-02792-5

DO - 10.1186/s13023-023-02792-5

M3 - SCORING: Review article

C2 - 37408081

VL - 18

SP - 178

JO - ORPHANET J RARE DIS

JF - ORPHANET J RARE DIS

SN - 1750-1172

IS - 1

ER -