|Year : 2017 | Volume
| Issue : 4 | Page : 330-332
Fetal cardiomegaly: A rare presentation of parkes weber syndrome
Niraj Kumar Dipak1, Ruchi Nimish Nanawati2, Saumil Desai2, Anita Ananthan2
1 Department of Neonatology, B J Wadia Hospital for Children, Nowrosjee Wadia Maternity Hospital, Parel, Mumbai, Maharashtra, India
2 Department of Neonatology, Seth GS Medical College, KEM Hospital, Parel, Mumbai, Maharashtra, India
|Date of Web Publication||29-Sep-2017|
Niraj Kumar Dipak
Department of Neonatology, B J Wadia Hospital for Children, Nowrosjee Wadia Maternity Hospital, Acharya Donde Marg, Parel, Mumbai - 400 012, Maharashtra
Source of Support: None, Conflict of Interest: None
Vascular malformations (VMs) are developmental abnormalities of the vascular system. VM can be divided into high flow (predominantly arteriovenous malformations) and low flow (capillaries, venous, lymphatic, and mixed). VMs may present antenatally, at birth, or may develop during childhood. The presence of high-flow lesion on Color Doppler favors the diagnosis of Parkes Weber syndrome (PWS) over Klippel-Trenaunay syndrome. The management of high output failure, skin, and orthopedic care remains the mainstay of therapy in PWS. We report a fetus with highly vascular swelling over left upper limb, which was detected when fetal cardiomegaly was alerted and looked out for its possible etiology. Fetal cardiomegaly demands meticulous sonographic screening of extremities of fetus as they often get missed.
Keywords: Arteriovenous malformations, fetal cardiomegaly, Klippel-Trenaunay syndrome, Parkes Weber syndrome
|How to cite this article:|
Dipak NK, Nanawati RN, Desai S, Ananthan A. Fetal cardiomegaly: A rare presentation of parkes weber syndrome. Indian J Paediatr Dermatol 2017;18:330-2
|How to cite this URL:|
Dipak NK, Nanawati RN, Desai S, Ananthan A. Fetal cardiomegaly: A rare presentation of parkes weber syndrome. Indian J Paediatr Dermatol [serial online] 2017 [cited 2020 Apr 5];18:330-2. Available from: http://www.ijpd.in/text.asp?2017/18/4/330/206078
| Introduction|| |
Vascular malformations (VMs) are developmental abnormalities of the vascular system which may involve arteries, capillaries, veins, or lymphatics. Venous malformations are the most commonly reported VMs. They are estimated to occur in 1 in 5000–10,000 childbirths. VMs can be divided into high flow (predominantly arteriovenous malformations [AVMs]) and low flow (capillaries, venous, lymphatic, and mixed). AVMs are associated with shunting of large amounts of arterial blood into the venous system and can have dramatic hemodynamic manifestations, such as venous engorgement, distal limb ischemia, organomegaly of concerned anatomic region, and high-output cardiac failure.
VMs may present antenatally, at birth, or may develop during childhood. VMs presenting antenatally with cardiomegaly is rarely being reported. We are reporting a fetus with highly vascular swelling over left upper limb, which was detected when fetal cardiomegaly was alerted and looked out for its possible etiology.
| Case Report|| |
A female baby with birth weight of 2700 g, born to a 25-year-old primigravida, was admitted in the Neonatal Intensive Care Unit (NICU) with respiratory distress. Although initially uneventful, pregnancy was complicated by fetal cardiomegaly at 34 weeks. Prenatal sonography showed fetal cardiomegaly with predominantly right atrium (RA) dilatation, dilated superior vena cava, and pulmonary artery indicating volume overload. A 6.7 cm × 6.8 cm × 5 cm heteroechoic significantly vascular mass was found on left forearm suggestive of high-flow lesion (AVMs). After birth, the baby had features of congestive heart failure (CHF) in the form of tachycardia, tachypnea, hepatomegaly, and cardiomegaly. Local examination showed 9 cm × 6 cm × 6 cm pulsatile circumferential swelling on the left forearm with venous engorgement and varicosities [Figure 1]. There were multiple patchy discoloration and ulceration of overlying skin with bruit on auscultation [Figure 1]. Chest X-ray showed cardiomegaly [Figure 2] two-dimensional ECHO revealed dilated RA, severe tricuspid regurgitation, and mild mitral regurgitation with 1.2 mm ductus arteriosus with predominant L-R shunt. Color Doppler of the limb mass confirmed a high-flow lesion with increased vascularity suggestive of a large AVM with dilated arteries and veins favoring Parkes Weber syndrome More Details (PKS) [Figure 2]. Ultrasonography cranium and abdomen including kidney, ureter, and bladder region were normal. She was managed with decongestive therapy for CHF and required respiratory support. However, the baby expired 7 days after birth.
|Figure 2: (a) Color Doppler showing high-flow vascular lesion, (b) chest X-ray showing cardiomegaly|
Click here to view
| Discussion|| |
VMs occur in 1.5% of the population. Capillary malformations or port-wine stains of the skin and mucosa are the most frequent VMs, occurring in 0.3% of childbirths. AVMs remain occult and concealed in brain, liver, lung, and spleen mostly. Arteriovenous fistulas (AVFs) in brain, liver, extremities may lead to intractable heart failure in a newborn necessitating the importance of auscultation of liver, chest, and brain in all newborns with cardiac failure.
In our case, the newborn presented with antenatally detected VM involving left upper limb and CHF. The presence of high-flow lesion on Color Doppler was favoring the diagnosis of PWS. We could differentiate it from Klippel-Trenaunay syndrome (KTS) which is a low-flow lesion presenting with clinical triad of port-wine stain of the skin, ipsilateral soft tissue and/or bony hypertrophy, and venous varicosities., Most patients with KTS syndrome have a combined venous-arterial-lymphatic malformation (LM). Lesions in KTS are often restricted to one extremity but occasionally more widespread VMs are noted.
PWS is classified as a complex-combined VM comprising a capillary AVM, AVFs, lymphedema, and overgrowth of a limb. PWS is rare and sporadic although familial cases have been reported. PWS may be linked to mutations of the RASA1 gene. Patients with PWS have clinically significant macro-micro fistulous arteriovenous shunts, affecting usually one extremity. In our case, the baby had dilated frequently pulsatile varicose veins and other visible signs of arteriovenous shunting. These patients may develop cardiac failure due to long-standing arteriovenous shunting. The disease progression is more frequent in PWS than in KTS due to hemodynamic involvement.
Prenatal ultrasound (US) may diagnose PWS as early as 15th week of gestation, based on limb hypertrophy and associated subcutaneous cystic lesions. Three-dimensional US may reveal leg width difference. Possible additional features include fetal hydrops, cardiac failure, and polyhydramnios. Differentials for intrauterine imaging findings may include Beckwith–Wiedemann syndrome, Proteus syndrome, Russell-Silver syndrome More Details, Maffucci syndrome, CHILD syndrome, congenital hemidysplasia with ichthyosiform erythroderma and limb defects, neurofibromatosis.
VMs can be classified into high-flow type (e.g., AVM) and low-flow type (e.g., venous malformation and LM)., VMs and LMs have the ability to cross multiple tissue boundaries. At present, magnetic resonance imaging (MRI) is the gold standard imaging tool to evaluate such complex conditions. MRI defines the anatomic extent and involvement of various tissue layers, particularly T2-weighted MR images may show malformed venous and lymphatic lesions as areas of high signal intensity. Extremely critical condition of the neonate in the NICU precluded MRI in our case.
The management of high output failure, skin, and orthopedic care remains the mainstay of therapy in PWS. The option of vascular treatment of arterial embolization can be tried but this procedure often fails to control the shunting in PWS., Surgical resection of the lesion and limb amputation is tried in some cases of PWS with intractable CHF. Laser treatment of the skin lesions is avoided for the fear of worsening the shunting through AVFs.
| Conclusion|| |
While managing a neonate with congestive cardiac failure, it is essential to look for AVMs due to their potential presence in deep-seated organs such as brain, liver, spleen apart from being obvious on extremities. Moreover, antenatal presentation of feral cardiomegaly demands attention and meticulous sonographic screening to rule out AVMs as they often get missed.
Declaration of Patient Consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
We would like to thank Dean, Dr. Avinash Supe, MD, Seth GS Medical College and KEM Hospital, Mumbai, for permitting us to publish the manuscript. Special thanks to senior librarian Mrs. Asha Sharma, Wadia Hospital, Mumbai, for providing all the relevant articles.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Eifert S, Villavicencio JL, Kao TC, Taute BM, Rich NM. Prevalence of deep venous anomalies in congenital vascular malformations of venous predominance. J Vasc Surg 2000;31:462-71.
Vikkula M, Boon LM, Mulliken JB. Molecular genetics of vascular malformations. Matrix Biol 2001;20:327-35.
Gloviczki P, Duncan A, Kalra M, Oderich G, Ricotta J, Bower T, et al.
Vascular malformations: An update. Perspect Vasc Surg Endovasc Ther 2009;21:133-48.
Willenberg T, Baumgartner I. Vascular birthmarks. Vasa 2008;37:5-17.
Meier S. Klippel-Trenaunay syndrome: A case study. Adv Neonatal Care 2009;9:120-4.
Courivaud D, Delerue A, Delerue C, Boon L, Piette F, Modiano P. Familial case of Parkes Weber syndrome. Ann Dermatol Venereol 2006;133(5 Pt 1):445-7.
Osuga K, Hori S, Kitayoshi H, Khankan AA, Okada A, Sugiura T, et al.
Embolization of high flow arteriovenous malformations: Experience with use of superabsorbent polymer microspheres. J Vasc Interv Radiol 2002;13:1125-33.
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, et al.
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008;29:959-65.
Marler JJ, Fishman SJ, Upton J, Burrows PE, Paltiel HJ, Jennings RW, et al.
Prenatal diagnosis of vascular anomalies. J Pediatr Surg 2002;37:318-26.
Fayad LM, Hazirolan T, Bluemke D, Mitchell S. Vascular malformations in the extremities: Emphasis on MR imaging features that guide treatment options. Skeletal Radiol 2006;35:127-37.
[Figure 1], [Figure 2]