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| CASE REPORT |
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| Year : 2015 | Volume
: 12
| Issue : 1 | Page : 57-59 |
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Neonatal Marfan syndrome: A rare presentation
Rajesh Das, Biswajit Majumder, Debabrata Bera, Sougat Chakraborty
Department of Cardiology, Radha Gobinda Kar Medical College and Hospital, Kolkata, West Bengal, India
| Date of Web Publication | 5-Jan-2015 |
Correspondence Address:
Rajesh Das
Room no. 1, 2nd floor, Generator Room Building, R. G. Kar Medical College Campus, Kolkata - 700 004, West Bengal
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0189-7969.148491
Marfan syndrome is one of the most common single gene defects with an incidence of around 2-3 per 10000 persons. Neonatal Marfan syndrome is a rare and severe phenotype of this disease. Mortality is very high and is due to congestive heart failure and valvular regurgitations with suboptimal response to medical therapy. We present such a rare case of neonatal Marfan syndrome who had severe heart failure symptoms right after birth due to multivalvular lesions and was treated with prolonged conservative therapy. Keywords: Congestive heart failure, multivalvular prolapse, multivalvular regurgitant lesions, neonatal Marfan syndrome
How to cite this article:
Das R, Majumder B, Bera D, Chakraborty S. Neonatal Marfan syndrome: A rare presentation. Nig J Cardiol 2015;12:57-9 |
| Introduction | |  |
Marfan syndrome, an autosomal dominant disorder, is one of the most common single gene defects with an incidence of around 2-3 per 10000 persons. [1] Neonatal Marfan syndrome is a rare and severe phenotype of this disease. Classic Marfan syndrome features can present at birth but neonatal Marfan syndrome is a distinct entity. Even though both forms share many phenotypical features, two findings that are uncommon in classic Marfan syndrome presenting at birth, are very common in neonatal Marfan syndrome: Mitral or tricuspid valve insufficiency or both; and congenital emphysema. [2] The main reason of high mortality in neonatal Marfan syndrome is intractable heart failure due to mitral or tricuspid valve insufficiency. [3] Here we report a male neonate of neonatal Marfan syndrome with multivalvular lesions leading to severe congestive heart failure. There are very few case reports of neonatal Marfan syndrome from India till now, and to the best of our knowledge, our case would be the first reported case of neonatal Marfan syndrome from Eastern India.
| Case report | | |
A male baby was born after 35 weeks of gestation by vaginal delivery in our institution, that is R. G. Kar Medical College, Kolkata, India. Since birth he had severe respiratory distress. He was the first child in the family. His parents did not have any significant medical problem. There was no history of any significant illness among the other relatives. The baby weighted 1600 grams at birth.
On physical examination, his total height, upper and lower segments, and arm span were 43, 25, 18 and 45 cm, respectively (upper to lower segment ratio 1.32, arm span to height ratio 1.1). The anterior fontanel was open (2.5 cm × 3 cm). There was no lens dislocation in ophthalmological examination. The child had loose and redundant skin, micrognathia, arachnodactyly in both hands and feet, rocker bottom feet and flexion contracture of the knee and hip joints [Figure 1]. Thumb sign [Figure 1] and wrist sign were positive. The external genitalia appeared normal. | Figure 1: Picture of the patient, (a and b) loose skin, arachnodactyly, (c) Flexion contracture of hip and knee joints, Rocker bottom feet, arachnodactyly, (d) Demonstration of thumb sign, (e) Micrognathia, wrinkled forehead
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Examination of cardiovascular system revealed grade 3/6 pansystolic murmur in the left lower sternal border and gallop rhythm. There was another pansystolic murmur of grade 3/6, radiating to the left axilla.
Echocardiogram revealed prolapse of mitral, tricuspid and pulmonary valve; dilated chambers [Figure 2]; with severe mitral regurgitation and severe tricuspid regurgitation and mild pulmonary regurgitation. | Figure 2: Echocardiographic images, (a) Prolapse of tricuspid and mitral valves with dilated cardiac chambers shown in apical 4 chamber view, (b) Prolapse of pulmonary valve shown in parasternal short axis view, (c) Color Doppler across tricuspid valve in parasternal short axis view showing severe tricuspid regurgitation
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The baby was admitted in the neonatal intensive care unit (ICU) of our hospital. He was treated for congestive heart failure with oxygen, intravenous inotropic agents (dopamine), Angiotensin-converting-enzyme (ACE) inhibitor (enalapril) and intravenous diuretic (furosemide). After 2 week he was discharged from the hospital in stable condition with a plan of valve repair/replacement surgery after 6 months of age.
| Discussion | | |
Neonatal Marfan syndrome is a rare and severe form of Marfan syndrome. It is often associated with a deletion in the exon 24-32 region of the fibrillin 1 gene which is present in around 90% of neonatal Marfan syndrome patients but only in 20% of classic Marfan syndrome cases. [4] Family history is negative in 70-100% of classic Marfan syndrome; however, it is negative in only 20-30% of neonatal Marfan syndrome patients. [3] Neonatal Marfan syndrome differs from the infantile form of classic Marfan syndrome in the severity of the cardiac and pulmonary manifestations. [5] Both forms share many skeletal and eye problems e.g., ectopialentis, camptodactyly, arachnodactyly, joint contractures, muscle hypoplasia and loose skin. However joint contracture, mitral valve prolapse and mitral, tricuspid and pulmonary regurgitations were more prevalent in neonatal Marfan syndrome. Aortic regurgitation is less frequent in neonatal form. The prognosis of neonatal Marfan syndrome is poor; mean age at death was 16.3 months in a review of 86 cases while classic Marfan syndrome patients live for several decades. [6] In contrast to the classic Marfan syndrome in which the main cause of death is aortic dissection or rupture, neonatal Marfan syndrome patients die mostly from congestive heart failure (CHF) associated with mitral and tricuspid regurgitations. [3] Congenital emphysema is also very common in neonatal Marfan syndrome whereas in classic form of Marfan syndrome, it occurs in adulthood and occasionally in later childhood, but not in infancy. [2]
Medical therapy is not very successful in neonatal Marfan syndrome as CHF is often intractable and valvular regurgitations are progressive. [6] Surgery may be necessary to repair or replace the mitral or tricuspid valves and to replace the aortic root if it is involved. [7] However, surgery is difficult in infants due to the high probability of mortality and morbidity including complete heart block, thrombosis and stroke. [6] Finally heart transplantation may be the last resort for patients with neonatal Marfan syndrome. [8]
| Conclusion | | |
Neonatal Marfan syndrome, which is more severe in nature, should be distinguished from early onset form of classic Marfan syndrome by its characteristic valvular involvements. Patients with neonatal Marfan syndrome are difficult to treat with medical therapy and will eventually need surgical treatment.
| References | | |
| 1. | Judge DP, Dietz HC. Marfan′s syndrome. Lancet 2005;366:1965-76.  |
| 2. | Hennekam RC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005;139A:1. |
| 3. | Shih H, Liu W, Chen T. Neonatal Marfan syndrome - A case report. Acta Cardiol Sin 2004;20:171-5. |
| 4. | Faivre L, Masurel-Paulet A, Collod-Beroud G, Callewaert BL, Child AH, Stheneur C, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009;123:391-8. |
| 5. | Hennekam RC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005;139:1. [ PUBMED] |
| 6. | Strigl S, Quagebeur JM, Gersony WM. Quadrivalvar replacement in infantile Marfan syndrome. Pediatr Cardiol 2007;28:403-5. |
| 7. | Tsang VT, Pawade A, Karl TR, Mee RB. Surgical management of Marfan syndrome in children. J Card Surg 1994;9:50-4. |
| 8. | Krasemann T, Kotthoff S, Kehl HG, Debus V, Tjan TD, Schmid C, et al. Cardiac transplantation in neonatal Marfan syndrome - A life-saving approach. Thorac Cardiovasc Surg 2005;53 Suppl 2:S146-8. |
[Figure 1], [Figure 2]
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