Arrieta-Bretón S, García-Fernández JF, Álvarez-Suberviola E, Recio-Lejarza E, Hernández-Hernández J

Language: Spanish
References: 0
Page: 668-675
PDF size: 198.75 Kb.

ABSTRACT

Background: Multiple fetal cardiac rhabdomyomas are exceptional, with possible cardiac complications. They can appear in isolation or associated with tuberous sclerosis. Brain or kidney lesions associated with tuberous sclerosis may appear after birth. There is little information on the long-term neurological development associated with tuberous sclerosis.
Clinical case: Patient of 35 years, in the second pregnancy; The previous one was normal, with a healthy newborn. Current pregnancy evolved normally, with first-quarter ultrasound without abnormalities, 1.5 mm nuchal translucency, and screening for low-risk aneuploidies. Routine ultrasound of the second trimester was unsatisfactory due to poor cardiac visualization. In the 24-week reassessment, two cardiac tumors of increased and homogeneous echogenicity were observed, sonographically compatible with rhabdomyomas. A 3 mm apical pericardial effusion was also observed. Given the high association of this pathology with tuberous sclerosis, a prenatal genetic diagnosis was offered, finding a “de novo” mutation in the TSC 1 gene. The parents decided not to continue gestation.
Conclusions: Magnetic resonance imaging can be useful for tracking the nervous system and determining the degree of damage to the great vessels and myocardium. The prenatal molecular diagnosis of mutations in the TSC genes (causes of tuberous sclerosis), as well as the genetic study of the family unit should be offered as part of the prenatal counseling for diagnostic suspicion and for counseling for future gestations.