Journal of Cardiology and Catheterization

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Right Ventricular Non-Compact Myocardium Associated with Large Atrial Septal Defect in a 29- Year- Old Adult

John Jairo Araujo*

Cochair Adult Congenital Heart Disease Council in Inter American Society of Cardiology, Colombia

Somer Incare Cardiovascular Center, Colombia

Received: 30 October 2018

Accepted: 28 November 2018

Version of Record Online: 06 December 2018

Citation

Araujo JJ (2018) Right Ventricular Non-Compact Myocardium Associated with Large Atrial Septal Defect in a 29- Year- Old Adult Case. J Cardiol Catheter 2018(1): 21-25.

Correspondence should be addressed to

John Jairo Araujo, Colombia

E-mail: johnjairoaraujo@gmail.com

DOI: 10.33513/CACA/1801-03

Copyright

Copyright © 2018 John Jairo Araujo. This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and work is properly cited.


Keywords: Congenital Heart Disease; Interatrial Septal Defect; Non-Compact Ventricle

A 29-year-old woman, without prior hospitalizations, was referred to cardiology due to an episode of community acquired pneumonia, a heart murmur and cardiomegaly. She had a history of dyspnea on moderate exertion. On physical exam she had a regular heart rhythm, a normal first sound, a fixed split second heart sound, and a right parasternal systolic murmur. Her peripheral pulses were normal, she had no hepatomegaly, and her saturation was 88% on room air. A chest x-ray showed cardiomegaly, dilation of the right chambers, an enlarged pulmonary trunk and pulmonary hyperflow. On electrocardiogram she had a sinus rhythm with advanced right bundle branch block, a + 150° QRS axis, and right chamber enlargement (tall R waves in V1 - V2 and deep S waves in V5 - V6). A Holter showed paroxysmal atrial fibrillation. An echocardiogram was performed, showing a dilated inferior vena cava at 20 mm, > 50% collapse, dilation of the right heart chambers, and an RV diastolic diameter of 53 mm. There was also moderate tricuspid regurgitation, a high probability of Pulmonary Hypertension (PH) with a calculated Pulmonary Artery Systolic Pressure (PASP) of 57 mm Hg (Tricuspid Regurgitation (TR) velocity of 3.6 m/sec), mild pulmonary valve regurgitation which allowed the calculation of Pulmonary Artery Diastolic Pressure (PADP) at 11 mm Hg (pulmonary regurgitation 6 + estimated RA pressure: 5), and a calculated mean Pulmonary Artery Pressure (mPAP) of 26 mm Hg (mPAP = 1/3 PASP + 2/3 PADP). Echocardiogram results also showed a TAPSE of 19 mm, paradoxical septal motion and preserved LV systolic function, with an LVEF of 60%. The apical four-chamber view showed a dilated RV and the typical ventricular noncompaction appearance with prominent trabeculations, also seen in the short axis view (Figure 1, Video 1). Pulmonary valve or branch obstructions were ruled out. The modified apical view of the RV with color Doppler showed systolic and diastolic flow in the deep intertrabecular recesses (Figure 2A, Video 2); the subcostal view showed a large atrial septal defect (Figure 2B). Cardiac catheterization was performed ruling out Pulmonary Arterial Hypertension (PAH) and coronary circulation anomalies. The case was referred for surgical repair of the ASD following a functional cardiac resonance. Unfortunately, the patient did not accept surgery. She requested a voluntary discharge, and was treated with anti-congestive heart failure medications.

Figure 1: A: Apical 4 chamber view shows RV with dense trabecular meshwork and deep intertrabecular recesses, RA is delated due large atrial septal defect. B: Short ventricular axis view shows dilated RV compared with LV. Noncompaction affecting the anterior wall.

Video 1

Figure 2: A: Apical 2 chamber right ventricle shows trabecular meshwork and deep intertrabecular recesses, color doppler between spaces. B: Subcostal view green arrow shows large atrial septal defect.

Video 2

Discussion

Noncompaction of ventricular myocardium is a rare congenital disorder of endomycardial morphogenesis, characterized by dense trabecular meshwork and deep intertrabecular recesses are seen on the ventricle wall. In order of frequency is affected the Left Ventricle (LV) in an isolated way, followed LV and Right Ventricle (RV) together [1]. But the isolated involvement of the RV is very infrequent and reported in a few cases [2]. It has been described in association with Congenital Heart Diseases (CHD), particulary with outflow obstructive lesions or coronary anomalies and when there is not identified cause is called Isolated Non-Compact Myocardium (IVNC) andconsidered as unclassified cardiomyopathy. In the first 4 weeks of fetal life, the myocardium is formed by a spongy meshwork of myocardial fibers that form trabeculae with deep intertrabecular recesses and between 5 - 8 weeks the maturation occurs, resulting in compaction from the base to apex and from epicardium to endocardium. The arrest during this process is the cause of the non-compact myocardium. The overall prevalence is 0.01%, 0.014% in adulthood and childhood respectively [3]. In IVNC formstheclinicalmanifestation can be: Heart Failure (HF), tachyarrhythmias (atrial fibrillation, ventricular tachycardia in 25% and 47% respectively), embolic events (21 - 38%), and sudden death until in 50% of cases [4]. When there are association with CHD, the clinical presentation may be dominated by congenital defect itseflt, and symptoms of HF can be occur at a younger age. Familiar and spontaneous forms are described. In the IVNC has shown family recurrence in the middle of the cases. In studies in the adult population there are family association in 18% of cases [5]. Bleyl et al., published a series of IVNC in six affected children, the same family, with an inheritance pattern linked to the X, with a mutation in the G4.5 gene, chromosome Xq28 [6].

In expert hands the echocardiogram establishes the diagnosis with good precision. In 1990 Chin et al., established the diagnostic echocardiographiccriteria and laterJenni et al., in 1999 added color doppler as another criteria [7] (Table 1). These are valid in IVNC forms; but they are not accuratewhen associated with CHD, because morphology heart is usually affected by CHD, and often attributed as a consequence of CHD itself masking cardiac myopathy. However, they are can be useful. This case shows typical images of RV noncompaction associated with a large ASD. Before establishing an RV noncompaction diagnosis, right obstructive CHD must always be ruled out. The hypertrophic or hypertrabeculated RV appearance may be present in PAH (secondary to adaptive hypertrophy), associated or not associated with CHD. According to the 2015 ESC/ERS clinical practice guidelines for pulmonary hypertension [8], PAH is defined as: mPAP by right heart catheterization ≥ 25 mm Hg and pulmonary capillary wedge pressure ≤ 15 mm Hg and pulmonary vascular resistance ≥ 3 wood units.

Chin Criteria (1990)

Jenni Criteria (1999)

1. Absence of cardiac structural abnormalities, coexisting

1. Absence of cardiac structural abnormalities, coexisting

2. Numerous and excessive prominent trabeculations, with the presence of recesses

2. Numerous and excessive prominent trabeculations, with the presence of recesses

3. Echocardiographic views: parasternal long axis, subxyphoid, and apical 4 chamber

3. Echocardiographic views: parasternal short axis, and apical 4 chamber

4. Focus on depth of recesses

4. Focus on depth of recesses

5. Measured in end-diastole

5. Measured in end-systole

6. Ratio of distance from the epicardial surface to the trough of the trabecular recesses and distance from the epicardial surface to peak oftrabeculation ≤ 0.5

6. Ratio of thick noncompacted layer to thin compacted ≥ 2

7. AdaptedfromChin Tet al., isolated noncompaction of left ventricular myocardium: a study of eight cases [5].

7. Perfused intertrabecular recesses suplied by intraventricular blood on color doppler analysis.

Table 1: Echocardiographic criteria in Isolated Non-Compact Myocardium.

Pulmonary hypertension is considered to be mPAP by right heart catheterization ≥ 25 mm Hg. PAH may develop in up to 10% of all adults with CHD. With large ASDs (> 20 mm), up to 4% of Ostium Secundum (OS) defects will develop PAH along with 16% of sinus venosus defects [9]. In this case, the defect was classified as OS with extension to the Ostium Primum (OP) (the four-chamber view shows the defect extending to the OP), and was measured at 22 x 24 mm. The high probability of PH was considered in accord with the ESC/ERS recommendations which establish: TR velocity 2.9 - 3.4 m/sec + indirect signs of PH (RV dilation, RV hypertrophy, loss of eccentricity, paradoxical movement, RA dilation); TR velocity ≥ 3.4 m/sec, regardless of indirect echocardiographic signs. In this case, a diagnosis of PAH was ruled out by right catheterization.

Ultimately, this case was classified as myocardial noncompaction of the Right Ventricle (based on the echocardiographic findings), with additional hyperkinetic PH (increased pulmonary flow due to the large ASD), and thus an indication for surgical repair. Magnetic resonance is the ideal imaging method to confirm a diagnosis of RV myocardial noncompaction. It was not performed due to the voluntary discharge of the patient. The case is presented due to the infrequent presentation of myocardial noncompaction affecting the RV, and its association with CHD.

Conclusion

Noncompaction of ventricular myocardium is a rare congenital disorder. The most of cases affect the LV, and the isolated involvement of the RV is very infrequent. It has been described in association with Congenital Heart Diseases (CHD), particulary with outflow obstructive lesions or coronary anomalies, and is very infrequent in association with only ASD. Magnetic resonance is the ideal imaging method to confirm a diagnosis but in expert hands the echocardiogram establishes the diagnosis with good precision, chin and jenni criteria can be useful.

References

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