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Punch-out lesion following regression of a large left ventricular outflow rhabdomyoma

Published online by Cambridge University Press:  29 August 2017

Ibrahim A. Abu Zahira  and
Amiram Nir
Ibrahim A. Abu Zahira
Affiliation:
Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
Amiram Nir*
Affiliation:
Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
*
Correspondence to: A. Nir, MD, Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel. Tel: +972 2 677 8132; Fax: +972 2 677 9114; E-mail: amiramn@ekmd.huji.ac.il
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Abstracts

We report the case of a patient with rhabdomyoma of the left ventricular outflow tract, causing severe obstruction at birth. The tumour regressed completely by 6 years of age, leaving a punch-out lesion. The potential for spontaneous regression of these tumours and the formation of a myocardial lesion following rhabdomyoma regression are discussed.

Keywords

Rhabdomyomacardiacregression

Information

Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 1 , January 2018 , pp. 153 - 154
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Copyright
© Cambridge University Press 2017 

Cardiac rhabdomyomas are one of the common presentations of tuberous sclerosis in the neonatal period. These lesions are known to diminish in size or completely disappear after birth. The myocardium is thought to be restored following rhabdomyoma disappearance.

Report of a case

We present the case of an 8-year-old boy with tuberous sclerosis who was born with multiple cardiac rhabdomyoma. At birth, the echocardiogram revealed a large lobulated hyperechogenic mass within the intraventricular septum extending into the left ventricular outflow tract and causing severe flow obstruction (Fig 1a). The functional diameter of the outflow tract was 2 mm and the pressure gradient reached 70 mmHg at 1 week of age. Multiple other hyperechogenic masses were observed within the interventricular septum and the free wall of the left ventricle. Tuberous sclerosis was confirmed using wood-lamp skin scanning, brain ultrasound, and CT. Continuous ambulatory electrocardiograpy demonstrated premature atrial and ventricular beats that disappeared at later follow-up. The tumours gradually regressed.Reference Segal and Nir 1 At 4 months of age there was very mild left ventricular outflow obstruction with a 5-mm flow diameter causing a 11 mmHg pressure gradient. Regression of the septal mass was minimal. At 4 years of age, the protruding portion of the mass disappeared and the septal portion measured 4mm. At 6 years of age the tumour in the left ventricular outflow tract had completely disappeared leaving a punch-out lesion (Fig 1b and c). The residual wall of the left ventricular outflow tract at the site of the punch-out lesion measured 2 mm in thickness. The other tumours also disappeared, and were replaced by myocardium, as observed in the echocardiogram, with no tissue defects.

Figure 1

(a) Echocardiographic parasternal long-view aged 9 days showing a large, lobulated rhabdomyoma causing severe LVOT obstruction. (b) Two-dimensional and (c) three-dimensional echocardiographic parasternal long-view aged 6 years showing LVOT punch-out lesion at the site of the rhabdomyoma. Ao=Aorta, LA=left atrium, LV=left ventricle, R=rhabdomyoma.

Discussion

In the case presented, rhabdomyoma of the left ventricular outflow tract spontaneously disappeared, leaving a punch-out lesion. To the best of our knowledge, this phenomenon has not been described before.

Spontaneous rhabdomyoma regression has been described in many cases in the past. In some cases surgical resection is performed.Reference Ibrahim, Thakker, Miller and Barron 2 Recent reports suggest that drug therapy with a mechanistic target of rapamycin inhibitors, sirolimus,Reference Breathnach, Pears, Franklin, Webb and McMahon 3 or everolimus,Reference Aw, Goyer, Raboisson, Boutin, Major and Dahdah 4 accelerated tumour regression. As these drugs have a potential side effect,Reference Hinton, Prakash, Romp, Krueger and Knilans 5 their use is restricted to patients with tumours causing life-threatening haemodynamic compromise. The potential for spontaneous regression, which may occur in months, should be kept in mind when faced with a new-born with significant obstruction.

Rhabdomyoma regression and disappearance is usually associated with myocardium replacing the rhabdomyoma space. Regression with no myocardial replacement, creating punch-out lesion, may potentially result in a tissue defect, such as a ventricular septal defect. In our case, the residual septum was 2mm in size, with no septal defect. The reason the space left behind by the regressed tumour was not replaced by myocardium may be the late involution of the tumour – that is, after the age of 4 years – or the location of the left ventricular outflow tract. Does the myocardium return to a normal state with rhabdomyoma regression? A recent report found, on cardiac MRI, a region of fatty replacement in the interventricular septum in a 16-year-old boy with tuberous sclerosis.Reference Bakan, Yahyayev, Bakan and Dursun 6 The authors speculate that a regressed rhabdomyoma has been replaced by fat.

The International Tuberous Sclerosis Consensus GroupReference Hinton, Prakash, Romp, Krueger and Knilans 5 recommends that with rhabdomyoma disappearance there is no need for echocardiographic follow-up. Our report and the MRI finding suggest that the heart may not be completely normal after rhabdomyoma regression. Myocardial lesions may result in arrhythmia, septal defects, or impaired function. Thus, follow-up may be warranted.

Acknowledgement

None.

Financial Support

This research received no specific grant from any funding agency, commercial, or not-for-profit sectors.

Conflicts of Interest

None.

References

1. Segal, I, Nir, A. Rhabdomyoma causing severe left ventricular outflow obstruction in a newborn. A management dilemma. Pediatr Cariol 2010; 31: 303–305.Google Scholar
2. Ibrahim, CP, Thakker, P, Miller, PA, Barron, D.. Cardiac rhabdomyoma presenting as left ventricular outflow tract obstruction in a neonate. Interact Cardiovasc Thorac Surg 2003; 2: 572–574.CrossRefGoogle ScholarPubMed
3. Breathnach, C, Pears, J, Franklin, O, Webb, D, McMahon, CJ. Rapid regression of left ventricular outflow tract rhabdomyoma after sirolimus therapy. Pediatrics 2014; 134: e1199–e1202.Google Scholar
4. Aw, F, Goyer, I, Raboisson, MJ, Boutin, C, Major, P, Dahdah, N. Accelerated cardiac rhabdomyoma regression with everolimus in infants with tuberous sclerosis complex. Pediatr Cardiol 2017; 38: 394–400.CrossRefGoogle ScholarPubMed
5. Hinton, RB, Prakash, A, Romp, RL, Krueger, DA, Knilans, TK. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc 2014; 3: e001493.Google Scholar
6. Bakan, S, Yahyayev, A, Bakan, AA, Dursun, M. Asymptomatic fatty changes in the myocardium of a patient with tuberous sclerosis. Pediatr Cardiol 2011; 32: 1216–1218.CrossRefGoogle ScholarPubMed
Figure 0

Figure 1 (a) Echocardiographic parasternal long-view aged 9 days showing a large, lobulated rhabdomyoma causing severe LVOT obstruction. (b) Two-dimensional and (c) three-dimensional echocardiographic parasternal long-view aged 6 years showing LVOT punch-out lesion at the site of the rhabdomyoma. Ao=Aorta, LA=left atrium, LV=left ventricle, R=rhabdomyoma.