Echocardiographic Follow-up in Aarskog-Scott Syndrome: Is It Useful? Report of AAS Twins with PFO

Document Type : case report

Authors

1 University of Modena and Reggio Emilia, CHIMOMO Dept c/o Policlinico di Modena – Via del Pozzo, 71 – 41124 Modena (IT).

2 1. University of Modena and Reggio Emilia, CHIMOMO Dept c/o Policlinico di Modena – Via del Pozzo, 71 – 41124 Modena (IT). 2. Centro P.A.S.C.I.A. (Programma Assistenziale Scompenso cardiaco, Cardiopatie dell’’Infanzia e A rischio) c/o AOU Policlinico di Modena – Via del Pozzo, 71 – 41124 Modena (IT).

3 1 University of Modena and Reggio Emilia, CHIMOMO Dept c/o Policlinico di Modena – Via del Pozzo, 71 – 41124 Modena (IT). 2 Centro P.A.S.C.I.A. (Programma Assistenziale Scompenso cardiaco, Cardiopatie dell’’Infanzia e A rischio) c/o AOU Policlinico di Modena – Via del Pozzo, 71 – 41124 Modena (IT).

4 Centro P.A.S.C.I.A. (Programma Assistenziale Scompenso cardiaco, Cardiopatie dell’’Infanzia e A rischio) c/o AOU Policlinico di Modena – Via del Pozzo, 71 – 41124 Modena (IT).

Abstract

Background: Aarskog-Scott Syndrome (AAS), also known as facio-digital-genital dysplasia, is a rare syndrome mainly characterized by short stature, skeletal disorders and genitourinary dysmorphisms (1).
Case report: We present the case of two caucasian male twins affected by AAS and Patent Foramen Ovale (PFO). The AAS diagnosis was genetically confirmed by the homozygous mutation on the FGD1 gene on exon 6, variant c.1327 C>T p. (Arg443 Cys). Twins described in this report would have been at a higher risk of CHD because of three elements: they were affected by AAS, they were born after IVF, and they were twins. Despite having all these characteristics, only a PFO was detected. 2021 European position paper (22) asserts that after an incidental finding of a PFO, conventional flight or diving should not be denied. In professional divers and selected military pilots performing intensive high-altitude flight activities, a primary PFO percutaneous closure should be recommended.
Conclusion: A first echocardiography evaluation should be performed on a child presenting malformations because of possible involvement of the heart; nevertheless, we do not believe that AAS patients should undergo a mandatory cardiological follow-up. The larger PFOs or those with significant resting shunts should require a follow-up based on specific patient characteristics.

Keywords

References

  1. Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, et al. The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review. Genet Res (Camb). 2021; 2021:6652957. Published 2021 Feb 2. doi:10.1155/2021/6652957.
  2. Kaname T, Yanagi K, Okamoto N, Naritomi K. Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. Am J Med Genet A. 2006; 140(12):1331-1332. doi:10.1002/ajmg.a.31253.
  3. Orrico A, Galli L, Buoni S, et al. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A. 2005; 135(1):99-102. doi:10.1002/ajmg.a.30700.
  4. Diluna ML, Amankulor NM, Johnson MH, Gunel M. Cerebrovascular disease associated with Aarskog-Scott syndrome. Neuroradiology. 2007; 49(5):457-461. doi:10.1007/s00234-007-0209-1.
  5. Nayak RB, Ambika L, Bhogale GS, Pandurangi A. Mania with Aarskog-Scott syndrome. Indian Pediatr. 2012; 49(4):327-328.
  6. https://www.omim.org/entry/305400.
  7. Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr. 1970; 77(5):856-861. doi:10.1016/s0022-3476(70)80247-5.
  8. Scott CI. Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth defects original article series. 1971 May 1; 7(6):240-6.
  9. Orrico A, Galli L, Clayton-Smith J, Fryns JP. Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015. Eur J Hum Genet. 2015; 23(4):. doi:10.1038/ejhg.2014.178.
  10. Alexiev VA, Harcke HT, Kumar SJ. Residual dysplasia after successful Pavlik harness treatment: early ultrasound predictors. J Pediatr Orthop. 2006; 26(1):16-23. doi:10.1097/01.bpo.0000187995.02140.c7.
  11. Eskedal LT, Hagemo PS, Eskild A, Frøslie KF, Seiler S, Thaulow E. A population-based study relevant to seasonal variations in causes of death in children undergoing surgery for congenital cardiac malformations. Cardiol Young. 2007; 17(4):423-431. doi:10.1017/S1047951107000881.
  12. Liu Y, Chen S, Zühlke L, et al. Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies. Int J Epidemiol. 2019; 48(2):455-463. doi:10.1093/ije/dyz009.
  13. Best KE, Rankin J. Increased risk of congenital heart disease in twins in the North of England between 1998 and 2010. Heart. 2015; 101(22):1807-1812. doi:10.1136/heartjnl-2015-307826.
  14. Giorgione V, Parazzini F, Fesslova V, et al. Congenital heart defects in IVF/ICSI pregnancy: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018; 51(1):33-42. doi:10.1002/uog. 18932.
  15. Malizia BA, Dodge LE, Penzias AS, Hacker MR. The cumulative probability of liveborn multiples after in vitro fertilization: a cohort study of more than 10,000 women. Fertil Steril. 2013; 99(2):393-399. doi:10.1016/j.fertnstert. 2012.10.018.
  16. Fernandez I, Tsukahara M, Mito H, et al. Congenital heart defects in Aarskog syndrome. Am J Med Genet. 1994; 50(4):318-322. doi:10.1002/ajmg. 1320500404.
  17. Ko JM. Genetic Syndromes associated with Congenital Heart Disease. Korean Circ J. 2015; 45(5):357-361. doi:10.4070/kcj.2015.45.5.357.
  18. Pristipino C, Germonpré P, Toni D, et al. European position paper on the management of patients with patent foramen ovale. Part II - Decompression sickness, migraine, arterial deoxygenation syndromes and select high-risk clinical conditions [published correction appears in Eur Heart J. 2021 Jun 1; 42(21):2102]. Eur Heart J. 2021; 42(16):1545-1553. doi:10.1093/eurheartj/ehaa1070.
  19. Fryns, J.P., Macken, J., Vinken, L. et al. The Aarskog syndrome. Hum Genet 42, 129–135 (1978). https://doi.org/10.1007/BF00283632
  20. Linglart L, Gelb BD. Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. Am J Med Genet C Semin Med Genet. 2020; 184(1):73-80. doi:10.1002/ajmg.c.31765.
  21. Seiler C. Patent foramen ovale (PFO): is there life before death in the presence of PFO?. Eur J Clin Invest. 2015; 45(8):875-882. doi:10.1111/eci.12469.
  22. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet. 2013; 381(9863):333-342. doi:10.1016/S0140-6736(12)61023-X.

 

Journal of Pediatric Perspectives
Volume 12, Issue 4
April 2024
Pages 18787-18792

Files

Share

How to cite

Statistics