Siblings with Gorlin-Goltz syndrome associated with cardiac tumors
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Siblings with Gorlin-Goltz syndrome associated with cardiac tumors : a case report and review of literature. / Wilke, Paula I; Biermann, Daniel; Grafmann, Maria; Kozlik-Feldmann, Rainer; Papingi, Dzhoy; Sachweh, Jörg S; Stute, Fridrike; Olfe, Jakob.
in: ORPHANET J RARE DIS, Jahrgang 18, Nr. 1, 05.07.2023, S. 178.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
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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 -