Correspondence Address: Dr. Munesh Tomar Nutema Hospital, Meerut, Uttar Pradesh India
Source of Support: None, Conflict of Interest: None
Aortic and pulmonary valves share a common developmental origin from the embryonic arterial trunk, so there are chances of involvement of both semilunar valves in the process of congenital malformation involving one valve. However, in reported literature, this is not a common association. Here, we report an infant diagnosed to have bicuspid morphology of both semilunar valves with a large perimembranous ventricular septal defect.
How to cite this article: Tomar M, Tomar HS. Ventricular Septal Defect and Bicuspidity of Both Semilunar Valves with Obstruction Creating Complex Hemodynamics. J Indian Acad Echocardiogr Cardiovasc Imaging 2020;4:387-9
How to cite this URL: Tomar M, Tomar HS. Ventricular Septal Defect and Bicuspidity of Both Semilunar Valves with Obstruction Creating Complex Hemodynamics. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2020 [cited 2021 Apr 13];4:387-9. Available from: https://www.jiaecho.org/text.asp?2020/4/3/387/303947
The bicuspid aortic valve is a common congenital anomaly; in contrast, bicuspid pulmonary valve is a rare anomaly, having an incidence of only 0.1%. The presence of both arterial valves with two leaflets is exceedingly rare.
Here, we report an infant diagnosed to have bicuspidity of both semilunar valves on echocardiography, associated with ventricular septal defect, leading to complex hemodynamic and clinical presentation.
A 4-month-old male, born at term from nonconsanguineous marriage, having birth weight of 3.6 kg, presented with symptoms of congestive heart failure (CHF) since the 1st week of life. Chest X-ray frontal view done at 3 months of age showed cardiomegaly (cardiothoracic ratio −70%) with increased pulmonary blood flow [Figure 1]. On echocardiography, he was diagnosed as a case of tetralogy of Fallot. As there were features of CHF, he was referred to our center for further evaluation. On examination, the child was acyanotic with oxygen saturation of 94%. There was tachycardia (heart rate 170/min) and he was in severe respiratory distress. He was weighing 5.4 kg (3rd–15th percentile). All pulses were palpable with a blood pressure of 74/46 mmHg. There were cardiomegaly, prominent precordial impulse, Grade 4/6 ejection systolic murmur, and high-pitched early diastolic murmur. Twelve-lead electrocardiography showed sinus tachycardia with biventricular hypertrophy. Detailed echocardiography was done by the Phillips Affiniti 50C machine (model number US 817D0517) with the use of broadband transducers (S12, S8). Sequential approach had been followed to reach the complete diagnosis and showed situs solitus, levocardia, and with concordant atrioventricular and ventriculoarterial connections. There was nonrestrictive perimembranous ventricular septal defect (VSD) with bidirectional shunt, bicuspid pulmonary valve with moderate-to-severe pulmonary stenosis (peak gradient 70 mmHg) and moderate pulmonary regurgitation (PR), bicuspid aortic valve with moderate aortic stenosis (mean gradient 38 mmHg) and moderate aortic regurgitation, moderate pulmonary arterial hypertension (PAH) (PR gradient 57 mmHg), normal ventricular systolic function [Figure 2], [Figure 3]a, [Figure 3]b, [Figure 4]a, [Figure 4]b and [Video 1], [Video 2]. Main pulmonary artery (24 mm, Z score + 5.9) and ascending aorta (16 mm, Z score + 3.95) were dilated [Figure 5]. The type of bicuspid aortic valve was Type 1B (right and left coronary leaflets were conjoined without raphae) with aortic regurgitation from commissure between noncoronary and right coronary cusps. There was mild tricuspid regurgitation with a peak gradient of 110–120 mmHg and mild mitral regurgitation with a peak gradient of 120 mmHg (to assess left ventricular systolic pressure).
Figure 1: Chest X-ray frontal view showing cardiomegaly (cardiothoracic ratio 70%) with increased pulmonary blood flow
Figure 2: Parasternal short-axis view at the base of the heart showing large perimembranous ventricular septal defect (arrow). RV: Right ventricle, MPA: Main pulmonary artery, LA: Left atrium, RA: Right atrium, Ao: Aorta
Figure 3: (a) Parasternal short-axis view at the level of great vessels showing bicuspid aortic valve with gap at the anterior end of commissure (arrow) which was the site of aortic regurgitation, (b) Continuous-wave Doppler interrogation of the aortic valve showing high gradients (mean/maximum gradient 38/70 mmHg). RV: Right ventricle, MPA: Main pulmonary artery, AoV: Aortic valve
Stenosis of both outflow tracts with large VSD creates complex hemodynamics putting a significant load on the heart. Hemodynamics can be understood by the line diagram [Figure 6]. Because of left ventricular outflow tract obstruction, left-to-right shunt across VSD increased leading to increased pulmonary blood flow and increase in gradient across the pulmonary valve. Obstruction of both outflow tracts with VSD leads to increase in severity of congestive cardiac failure. This child was initially diagnosed as a case of tetralogy of Fallot as focus was put only on large VSD and pulmonary stenosis.
Figure 6: Line diagram explaining cardiac hemodynamics. Left atrial and right atrial pressure was assumed, while left ventricular and right ventricular pressure was estimated by mitral regurgitation and tricuspid regurgitation peak gradient, respectively. Aortic pressure has been taken as blood pressure. RV: Right ventricle, LA: Left atrium, RA: Right atrium, LV: Left ventricle
Bicuspid aortic valve is the most common congenital anomaly, occurring in 1%–2% of the general population, whereas bicuspid pulmonary valve is rare with an incidence of 0.1%. Bicuspid aortic valve could be an isolated anomaly or can have associated congenital cardiac defect (s); more common lesions are aortic arch anomalies (coarctation of the aorta, interrupted aortic arch with or without arch hypoplasia), mitral valve anomalies, subaortic membrane, and VSD. Bicuspid pulmonary valve is commonly associated with tetralogy of Fallot, and there are few reports of transposition of great vessels. Although embryologically both semilunar valves arise from the common trunk, the finding of bicuspid involvement of both semilunar valves is extremely rare, and in reported literature, diagnosis was made either during surgery or during postmortem examination.,, Studies done in the human postmortem heart reported an incidence of 10%–12% of bicuspidity of both semilunar valves., A higher association of bicuspidity of both semilunar valves has been noted with chromosomal anomaly, especially trisomy 18.,,
We could find two case reports of bicuspidity of both semilunar valves by echocardiography, one with normally related great vessels and another in case of complete transposition of great vessels., In both cases, ventricular septum was intact. Our patient presented with congestive cardiac failure since the 1st week of life with CHF and PAH. The reason for early presentation is significant stenosis and regurgitation of both semilunar valves, leading to large hemodynamic load (both pressure and volume) on the heart.
It is very important to do echocardiography with clinical presentation in mind and go sequentially while doing echocardiography, and each cardiac segment should be looked in detail by two-dimension, color flow, and Doppler interrogation.
The baby had been planned for early high-risk surgery, but, unfortunately, while waiting for surgery, he succumbed to severe bronchopneumonia.
Echocardiography should always be done with clinical findings in mind. Sequential approach is a must to reach a correct diagnosis. Less common anatomical association should be thought and looked for. Bicuspidity of both semilunar valves is a rare congenital anomaly. Stenosis of both outflow tracts with large VSD creates complex hemodynamic load and leads to early presentation with congestive cardiac failure.
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