Unusual association between "congenitally corrected transposition of the great arteries" and "noncompaction" of the right systemic ventricle

Int J Cardiovasc Imaging. 2009 Aug;25(6):551-3. doi: 10.1007/s10554-009-9469-7. Epub 2009 May 13.

Abstract

Congenitally corrected transposition of the great arteries (CCTGA) is a rare and complex congenital anomaly characterized by atrial-ventricular (AV) discordance and ventricular-arterial discordance. Ventricular noncompaction (VNC) is a rare unclassified cardiomyopathy due to the arrest in intrauterine endomyocardial morphogenesis and it is characterized by numerous prominent trabeculations and intratrabecular recesses. We reported the case of a 47-year old female patient. When she was 35-year old an "isolated" CCTGA was diagnosed because of a heart murmur. Since then she attended periodically echocardiograms. She showed us 2 of them where right ventricle apical trabeculation was reported, without any others details. We performed a periodic evaluation in a patient still active, with a 6-month history of mild dyspnea occurring during exertion, no episodes of chest discomfort or palpitation. The ECG showed ectopic atrial rhythm, 83 bpm, normal QRS duration, QS complex in V1-V2 leads. The echocardiogram demonstrated: CCTGA, moderate enlargement and dysfunction of the right systemic ventricle, moderate to severe systemic AV valve regurgitation, severe thinning and dyskinesia of the basal segment of the septum, apical and mid-segments prominent and numerous trabeculations with deep intertrabecular recesses, better showed by color Doppler, in continuity with the ventricular cavity. This case presents some distinctive features: (1) the association between two rare congenital anomalies; (2) Striking right VNC, involving the apex and mid-segments, rarely described in literature; right VNC has been proposed according to the presence of 3 over 4 criteria proposed by Jenni et al. (Heart 86:666-671, 2001); (3) Severe thinning and dyskinesia of the basal segment of the septum, probably related to coronary artery abnormalities frequently described in CCTGA patients.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Adult
  • Aortic Valve Insufficiency / etiology
  • Cardiomyopathies / congenital*
  • Cardiomyopathies / diagnosis
  • Dyspnea / etiology
  • Echocardiography, Doppler, Color
  • Electrocardiography
  • Female
  • Heart Septum / pathology
  • Heart Ventricles / abnormalities*
  • Humans
  • Middle Aged
  • Transposition of Great Vessels / complications*
  • Transposition of Great Vessels / diagnosis
  • Treatment Refusal