Background Congenitally corrected transposition of great arteries (ccTGA) is an uncommon complex congenital heart disease with atrio-ventricular and ventriculo-arterial connections discondance. ccTGA may be associated with a situs solitus or situs inversus (34% of cases). Situs inversus is a mirror image of normal with the systemic ventricle situated on the right side. Instead, dextrocardia represents 20% of cases. Case clinic and discussion Came to our observation a 61 years old female, symptomatic for dyspnea on exertion (NYHA II). She had no past medical history of cardiovascular events. In anamnesis two full-term pregnancies without complications. Transthoracic echocardiogram found atrioventricular and ventriculo-arterial discordance in absence of significant valvulopathy. Cardiac computed tomography showed pulmonary veins linked to right atrium, superior and inferior cava veins connected to the left atrium; right atrium with tricuspid valve was connected to a morphologically left ventricle and left atrium with mitral valve was linked to morphologically right ventricle; pulmonary artery was connected to morphologically left ventricle instead aorta with aortic valve was linked to morphologically right ventricle. Cardiac MRI confirmed cctga in situs viscerum inversus, mild subpulmonary stenosis, moderate dilatation of arterial pulmonary trunk, and also intramyocardial late gadolinium enhancement due to fibrosis involving anterior and inferior interventricular junctions. Cardiac Holter monitoring showed sinus rhythm with some brief phases of low atrial rhythm, monomorphic isolated ventricular extrasystoles in absence of significant hyperkinetic or hypokinetic arrhythmias. CcTGA represents approximately 0.5% of all congenital heart disease. If undiagnosed in childhood, people usually become symptomatic during the first decades of life. Dyspnea, syncope and fatigue are the most frequent symptoms detected. Cardiac conduction disorders such as atrioventricular blocks are common due to the abnormal development of cardiac structures. Quality of life and its expectancy are related to the latency of the onset of heart failure symptoms. Only few patients remain asymptomatic beyond 50 years old. Symptoms and signs are frequently due to right sided (systemic) heart dysfunction and tricuspid valve insufficiency. A particular clinical situation worthy of attention is pregnancy because of the hemodynamic imbalance occurring. In fact, cardiac output increases of 40–50% above baseline determining an augmentation of stroke volume and heart rate. For these reasons, echo surveillance is needed every 4-8 weeks because of the increased risk of acute heart failure. An accurate assessment of heart rhythm has to be done due to the known predisposition to bradyarrhythmic and tachyarrhythmic events in ccTGA. Conclusions CcTGA patients require a strict cardiological follow up with echocardiographic assessment and periodic heart rhythm monitoring, in order to early detect worsening of cardiac function and significant abnormalities of the rhythm.

Background CHARGE syndrome (CS) is a rare genetic disease characterized by a constellation of clinical findings including Coloboma, Heart defects, choanal Atresia, Retardation of growth and/or development, Genitourinary malformation and Ear abnormalities. We present a case of persistent fifth aortic arch (PFAA), an extremely rare congenital anomaly of aortic arch (AA), in a child with genetically confirmed CS and perform a systematic review of published studied, in an effort to examinate the distribution of congenital heart diseases (CHDs) and their impact in CHARGE patients. Case presentations and results A 12 years-old child was referred to our echocardiography laboratory for atypical chest pain. He had bilateral ocular coloboma, left hypoacusis, scoliosis, mild motor impairments, nocturnal enuresis, micropenis and facial dysmorphisms. Molecular diagnostic testing identified a de novo mutation (variant c.5290_5300+10del) in the CHD7 gene and CS was diagnosed. Echocardiography showed a single posterolateral papillary muscle and a cleft of anterior mitral leaflet. Interestingly, AA had a double-lumen appearance without Doppler signs of coarctation. A PFFA was hypothesized and then confirmed at angioCT. A systematic review of the literature was performed according to PRISMA guidelines. All published articles reporting the association CS and CHDs were chosen. A total of 975 records were identified. After the screening of title and abstract, assessed for eligibility were 219 papers. Finally, inclusion and full-text analysis was made in 60 studies, of which 37 case reports and 23 case series. We found that ventricular septal defects emerged as the most prevalent heart defect (32%), followed by atrial septal defects reported in 23% of cases. Complex CHDs were also described. Interestingly, AA abnormalities were reported in a high percentage (27%) of patients, right AA in 20% in association or not with aberrant subclavian artery and vascular ring, interrupted AA in 5% of cases, as well as aortic coarctation in 10%. Of note, almost half of the cases (49%) required cardiac surgery, mostly performed within 1 year from birth and, although outcome was available in a minority of patients, the death was reported in almost 30%. Conclusions Our case is the first that reports PFFA in CS and may be mistaken for AA dissection. In comparison with other syndromic diseases, a high prevalence of AA abnormalities was found in patients with mutations in the CHD7 gene.