Coexistence of Thumb Aplasia and Cleft Lip and Alveolus with Aortopulmonary Window-A Tip for Prenatal Diagnostics for Rare Heart Anomalies

Abstract

Multiple congenital anomaly syndromes pose a challenge to neonatologists, as many anomalies may indicate cryptogenic malformations or disorders. Aortopulmonary window (APW) is a very rare congenital heart disease (CHD) and causes many difficulties in prenatal diagnostics. In this report, we describe a case of a female patient with multiple rare congenital malformations: aortopulmonary window, right thumb aplasia, facial nerve palsy and cleft lip and alveolus. None of the malformations were diagnosed prenatally. A long-term follow-up (40 years) is presented. The presence of certain defects (thumb aplasia) may indicate the need for a careful fetal examination extended by a fetal ECHO performed in a reference center of prenatal cardiology. The coexistence or syndromic character of the presented malformations should be verified in future if more such cases are described.

Keywords: aortopulmonary window; cleft lip; thumb aplasia.

Figure 1

Right hand with thumb aplasia (palmar view) and cleft lip and alveolus at 12 months.

Figure 2

Post cleft repair, at the age of 14 (on the left), and at the age of 40 (on the right), lowering of the right mouth angle.

Figure 3

Patient’s hands at the age of 40. Right hand X-ray: absence of I metacarpal and thumb phalanges, hypoplasia of the scaphoid bone and styloid process.

Figure 4

Defect of alveolus and nose at the age of 40 (CT scan).

Figure 5

Chest X-ray and ECHO at the age of 40: dilated bronchial vessels (left), the peak velocity of blood in PA (at the level of the repaired segment) = 3.3 m/s (right).