In the pediatric population, cardiac tumors are rare and may be associated with serious clinical conditions.

We present the case of a boy aged 3 years with a prenatal diagnosis of cardiac tumor detected by echocardiography (Fig. 1a) (Appendix A, Videos 1 and 2) and fetal MRI features compatible with cardiac fibroma. Prenatal genetic testing (array) for tuberous sclerosis turned out negative.

Figure 1.

(a) Fetal echocardiogram at 35+4 weeks of GA. Four-chamber view showing a 26 × 17 mm tumor in the left ventricle. (b) Echocardiogram following tumor resection at age 2 months, subcostal view (41 × 51 mm). (c) Echocardiogram at age 4 months, parasternal long-axis view, intracardiac tumor (60 × 35 mm). (d) Short-axis view showing tumor dimensions of 36 × 35 mm at age 3 years and 9 months.

At 7 days of life, a cardiac MRI was performed, along with postnatal genetic testing (next-generation sequencing), which detected a mosaic de novo pathogenic variant in the PTCH1 gene (c258_259del:p.Leu87IlefsTer2), leading to diagnosis of Gorlin syndrome.

Tumor growth and severe mitral insufficiency prompted performance of a partial resection at age 2 months. In the postoperative period, the patient developed pulsed ventricular tachycardia requiring electrical cardioversion and amiodarone. The condition was monitored with echocardiography (Fig. 1b–d) and Holter monitoring (Fig. 2) during the follow up, and the decision was made to implant a subcutaneous cardiac rhythm monitor at age 10 months.

Figure 2.

(a) Holter tracing showing triplets. (b) Holter tracing showing run of nonsustained ventricular tachycardia.

The patient subsequently developed multiple basal cell carcinomas, confirmed by biopsy, and palmoplantar pits (Fig. 3). He is currently stable and free of arrhythmias with carvedilol and sacubitril-valsartan.

Figure 3.

(a) Multiple punctate brown papules located on the left side of the trunk, clinically and histologically consistent with basal cell carcinoma. (b) Dermoscopic image of one of the basal cell carcinomas showing blue-gray nests and globules. (c) Palmoplantar pit.

Gorlin syndrome is an inherited autosomal dominant disorder caused by variants of the PTCH1 gene. It is characterized by the progressive development of numerous basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities and multicentric tumors (intracranial, cardiac fibromas, ovarian).1

This syndrome should be considered in cases of cardiac tumor that are not consistent with tuberous sclerosis; early diagnosis through comprehensive genetic testing is key and monitoring of disease are key.2,3