Obstet Gynecol Sci.  2016 Sep;59(5):393-396. 10.5468/ogs.2016.59.5.393.

An extremely rare case of prenatally diagnosed absent both aortic and pulmonary valves

• Yeon HK
• Lee MY
• Yoon SY
• Jung HJ
• Park JE
• Shim JY
• Won HS
• Lee PR
• Kim A

• KMID: 2391690
• DOI: http://doi.org/10.5468/ogs.2016.59.5.393

Abstract

We describe a case of absent aortic and pulmonary valves, diagnosed at 16.4 weeks of gestation. Fetal echocardiography showed cardiomegaly with dilated both ventricles. No valve leaflets were observed in the aorta and pulmonary artery, and a typical to-and-fro flow pattern was noted in both great arteries on color Doppler imaging. Fetal hydrops was also detected. Follow-up ultrasonographic evaluation at 19 weeks demonstrated intrauterine fetal death. Postmortem autopsy revealed the absence of both aortic and pulmonary valve leaflets. To the best of our knowledge, this is the earliest diagnosed case of absent both aortic and pulmonary valves and only the second case to be diagnosed prenatally.

Keyword

Aortic valve; Congenital heart disease; Prenatal diagnosis; Pulmonary valve

MeSH Terms

Aorta
Aortic Valve
Arteries
Autopsy
Cardiomegaly
Echocardiography
Fetal Death
Follow-Up Studies
Heart Defects, Congenital
Hydrops Fetalis
Pregnancy
Prenatal Diagnosis
Pulmonary Artery
Pulmonary Valve*

Figure

• 

  Fig. 1 Color and pulsed-wave Doppler showing a typical to-and-fro flow across the aortic (A-C) and pulmonary (D-F) valve annulus. Rt, right; Ao, aorta; LV, left ventricle; Lt, left; RV, right ventricle; PA, pulmonary artery.

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  Fig. 2 Postmortem autopsy showing the absence of both aortic (A) and pulmonary (B) valves (arrows). LV, left ventricle; RV, right ventricle.

Reference

1. Allan LD, Sharland GK, Milburn A, Lockhart SM, Groves AM, Anderson RH, et al. Prospective diagnosis of 1,006 consecutive cases of congenital heart disease in the fetus. J Am Coll Cardiol. 1994; 23:1452–1458.

2. Murakami T, Horigome H, Shiono J, Ishiodori T, Ban Y, Gomi S, et al. Prenatal diagnosis of congenital absence of aortic valve: a report of two cases with different outcomes and a literature review. Fetal Diagn Ther. 2015; 38:307–314.

3. Hartwig NG, Vermeij-Keers C, De Vries HE, Gittenberger-De Groot AC. Aplasia of semilunar valve leaflets: two case reports and developmental aspects. Pediatr Cardiol. 1991; 12:114–117.

4. Abuhamad A, Chaoui R. Tetralogy of Fallot, pulmonary atresia with ventricular septal defect, and absent pulmonary valve syndrome. In : Abuhamad A, Chaoui R, editors. A practical guide to fetal echocardiography: normal and abnormal hearts. 3rd ed. Philadelphia (PA): Wolters Kluwer;2016. p. 416–417.

5. Miyabara S, Ando M, Yoshida K, Saito N, Sugihara H. Absent aortic and pulmonary valves: investigation of three fetal cases with cystic hygroma and review of the literature. Heart Vessels. 1994; 9:49–55.

6. Marek J, Skovranek J, Povysilova V. Congenital absence of aortic and pulmonary valve in a fetus with severe heart failure. Heart. 1996; 75:98–100.

7. Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, et al. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature. Ultrasound Obstet Gynecol. 2013; 41:162–167.