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Year : 2015  |  Volume : 3  |  Issue : 4  |  Page : 103-105

Common Atrium with Unusual Electrocardiogram in Ellis-van Creveld Syndrome: A Case Report

Department of Cardiology, RNT Medical College, Udaipur, Rajasthan, India

Date of Web Publication21-Dec-2015

Correspondence Address:
Amit Kumar
Department of Cardiology, RNT Medical College, Udaipur - 313 001, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2321-449X.168470

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Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality characterized by a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. Common atrium is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC syndrome. This rare condition is inherited as an autosomal recessive trait.
This report describes a case of common atrium with unusual electrocardiographic findings in a patient with EVC syndrome. This 17-year-old male of Indian origin born of a consanguineous marriage had short stature, genu valgum, polydactyly, gingival hypertrophy, multiple frenula, common atrium, and right axis deviation of QRS with clockwise depolarization in electrocardiogram.

Keywords: Common atrium, Ellis-van Creveld syndrome, right axis deviation

How to cite this article:
Kumar A, Sharma S, Sharma M, Bhargava K. Common Atrium with Unusual Electrocardiogram in Ellis-van Creveld Syndrome: A Case Report. Heart India 2015;3:103-5

How to cite this URL:
Kumar A, Sharma S, Sharma M, Bhargava K. Common Atrium with Unusual Electrocardiogram in Ellis-van Creveld Syndrome: A Case Report. Heart India [serial online] 2015 [cited 2023 Feb 2];3:103-5. Available from: https://www.heartindia.net/text.asp?2015/3/4/103/168470

  Introduction Top

Ellis-van Creveld (EVC) is a complex genetic syndrome first described by Richard W.B. Ellis and Simon van Creveld in 1940. The Classical case comprises a tetrad of clinical manifestations of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. [1] It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence remains unknown. About 100 cases have been reported between the first full description of the syndrome in 1940, [1] and 1968. [2] Since 1968, approximately 50 other cases have been reported in the literature. It is found with increased frequency among the Amish community in Lancaster County, Pennsylvania, US, where the largest pedigree has been described. [3]

  Case Report Top

A 17-year-old male presented with exertional dyspnea and easy fatigability. He was born of a consanguineous marriage. There was no significant antenatal, natal, and neonatal history. He had frequent respiratory tract infections and short stature since childhood. His school performance was average. His parents and other siblings had normal growth.

On general examination, he had short stature with a height of 140 cm, bilateral polydactyly of hand and feet [Figure 1], genu valgum, gingival hypertrophy, and multiple frenula [Figure 2]. He had mild cyanosis with SpO2 of 85%. Examination of the cardiovascular system revealed precordial bulge with hyperdynamic precordium, a grade 3/6 ejection systolic murmur over the left second intercostal space and a pansystolic murmur in the mitral area. The electrocardiogram revealed right axis deviation of the QRS with clockwise depolarization, rsR' pattern in lead V 1, and first-degree atrioventricular (AV) block [Figure 3]. The chest X-ray showed cardiomegaly with dilated main pulmonary artery and its branches [Figure 4]. Transthoracic echocardiogram [Figure 5] and [Figure 6] showed common atrium, cleft anterior mitral leaflet with moderate mitral regurgitation, moderate pulmonary hypertension, mild tricuspid regurgitation, and a persistent left superior vena cava. A clinical diagnosis of EVC syndrome was made based on the above-mentioned findings.{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}{Figure 6}

  Discussion Top

EVC syndrome is an autosomal recessive disorder, with a mendelian risk of 25% for subsequent pregnancies. The offspring of the consanguineous union is at increased risk for recessive disorders because of the expression of autosomal recessive gene mutations inherited from a common ancestor. The closer the biological relationship between parents, the greater is the probability that their offspring will inherit recessive genes. In our case, parents had consanguineous marriage. This syndrome have been mapped to chromosome 4p16 in 1996 by Polymeropoulos et al. using nine Amish subpedigrees and single pedigrees from Mexico, Ecuador, and Brazil. [4] Ruiz-Perez et al. identified the EVC gene locus by positional cloning. [5] In 2003, this group found a second gene locus, EVC2, located in a nearly head-to-head configuration with the EVC gene. Genetic study was not done in this case due to financial constraints.

EVC phenotype is variable and affects multiple organs. Prenatal abnormalities can be diagnosed after the 18 th week of gestation; they include narrow thorax, marked shortening of the long bones, hexadactyly of hands and feet, and cardiac defects. [6] After birth, the cardinal features are:

  1. Disproportionate small stature with increasing severity from the proximal to distal portion of the limb, and shortening of the middle and distal phalanges;
  2. Polydactyly affecting hands and occasionally, the feet;
  3. Ectodermal dysplasia mainly affecting the nails, hair, and teeth; and
  4. Congenital heart malformations occurring in about 50-60% of cases, the most common anomaly being common atrium.

The presence of heart disease is the main determinant of longevity. Our case had a small stature, polydactyly of hands and feet [Figure 1], and common atrium [Figure 5]. The premature eruption of malformed maxillary incisors, gingival hypertrophy, and multiple frenula are commonly present. [7] In this case, gingival hypertrophy and multiple frenula [Figure 2] were present. Several inconstant additional features have been described in this syndrome such as strabismus, epispadias, hypospadias, cryptorchidism, thoracic wall abnormality, and renal abnormalities. Cognitive and motor development is usually normal. The patient mentioned here didn't have any abnormalities of the urinary and nervous system.

The electrocardiogram of common atrium reflects combined features of absent superior, middle, and inferior portion of the atrial septum. [8] In majority of cases, left axis deviation of the QRS with counterclockwise depolarization is found because of the anomaly of the conduction system leading to early activation of the posterobasal left ventricular (LV) wall and a delayed activation of anterolateral LV wall. [9] Low atrial focus with superior P-wave axis may be occasionally seen. First degree AV block is often present. In our case, electrocardiogram showed right axis deviation of the QRS with clockwise depolarization, the rsR pattern in lead V 1 , and first degree AV block [Figure 3]. To the best of our knowledge, this is the first case report of the common atrium in EVC syndrome with electrocardiogram showing right axis deviation of QRS with clockwise depolarization. The possible explanation for this finding could be that there might not be an anomaly of the conduction system in our case leading to the absence of left axis deviation. Right, axis deviation can be due to associated pulmonary hypertension or right ventricular enlargement.

The management of EVC syndrome is multidisciplinary. For proper management and rehabilitation of such case involvement of specialists from various disciplines is required.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Ellis RW, van Creveld S. A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: Report of three cases. Arch Dis Child 1940;15:65-84.  Back to cited text no. 1
Lynch JI, Perry LW, Takakuwa T, Scott LP 3 rd . Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro. Am J Dis Child 1968;115:80-7.  Back to cited text no. 2
McKusick VA. Ellis-van Creveld syndrome and the Amish. Nat Genet 2000;24:203-4.  Back to cited text no. 3
Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, et al. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics 1996;35:1-5.  Back to cited text no. 4
Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000;24:283-6.  Back to cited text no. 5
Horigome H, Hamada H, Sohda S, Oyake Y, Kurosaki Y. Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium. Pediatr Radiol 1997;27:942-4.  Back to cited text no. 6
Winter GB, Geddes M. Oral manifestations of chondroectodermal dysplasia (Ellis-van Creveld Syndrome). Report of a case. Br Dent J 1967;122:103-7.  Back to cited text no. 7
Hung JS, Ritter DG, Feldt RH, Kincaid OW. Electrocardiographic and angiographic features of common atrium. Chest 1973;63:970-5.  Back to cited text no. 8
Boineau JP, Moore EN, Patterson DF. Relationship between the ECG, ventricular activation, and the ventricular conduction system in ostium primum ASD. Circulation 1973;48:556-64.  Back to cited text no. 9


  [Figure 1]HeartIndia_2015_3_4_103_168470_f1.jpg, [Figure 2]HeartIndia_2015_3_4_103_168470_f2.jpg, [Figure 3]HeartIndia_2015_3_4_103_168470_f3.jpg, [Figure 4]HeartIndia_2015_3_4_103_168470_f4.jpg, [Figure 5]HeartIndia_2015_3_4_103_168470_f5.jpg, [Figure 6]HeartIndia_2015_3_4_103_168470_f6.jpg


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