Unusual association between "congenitally corrected transposition of the great arteries" and "noncompaction" of the right systemic ventricle.
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.
Cardiology Department, Ospedale S Salvatore, ASL no 4, L'Aquila, Italy. patrignani.anna@libero.it
Anna
A
Patrignani
Alessandro
A
D'Aroma
Sabrina
S
Cicogna
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D001022:Aortic Valve Insufficiency / Q000209:etiology; D009202:Cardiomyopathies / Q000151:congenital* / Q000175:diagnosis; D004417:Dyspnea / Q000209:etiology; D018618:Echocardiography, Doppler, Color; D004562:Electrocardiography; D005260:Female; D006346:Heart Septum / Q000473:pathology; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D008875:Middle Aged; D014188:Transposition of Great Vessels / Q000150:complications* / Q000175:diagnosis; D016312:Treatment Refusal