Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome

Abstract

Key words coarctation of the aorta, diverticulum, Kabuki syndrome, left ventricle.The present patient was an 11-month-old male infant, who had undergone surgical repair of coarctation of the aorta (CoA) and atrial septal defect (ASD) at 7 days of age. He was clinically diagnosed with Kabuki syndrome (KS) on the presence of characteristic facial features, clinodactyly of the fifth finger, persistent finger fetal pads, postnatal growth retardation, and developmental delay. At the time of initial computed tomography (CT), small crypt (diameter, 2.6 mm) was noted on the lateral side of the left ventricle (LV), and we decided to follow up this lesion. When he visited the outpatient clinic for a periodic exam at 7 months old, we noted an LV diverticulum (LVD) where the small crypt was located on 2-D echocardiography. On subcostal view, an accessory tongue-shaped chamber with a narrow neck (diameter of the body, 5 mm) was seen in the LV apex. The contraction of the diverticulum was synchronous with that of the LV, and color flow mapping indicated rapid diastolic filling inside the diverticulum. Because the patient was asymptomatic, we decided to do medical follow up frequently. On 2-D echocardiography at 9 months of age ( Fig. 1a), the LVD had increased in size to approximately 9.6 mm (diameter of the body) compared with the previous imaging. On cardiac catheterization, we gained more precise imaging of the location, size and morphology of the LVD (Fig. 1b). Although the patient had no symptoms, we were concerned about life-threatening complications of LVD such as cardiac rupture because the LVD was increasing rapidly. Finally, surgery was decided upon, to avoid life-threatening complications. At the age of 11 months, he underwent redo median sternotomy with preparation for cannulation. The diverticulum was identified arising from the LV near the left anterior descending artery. Tenting sutures were placed at the diverticular sac, and the diverticular sac was then incised (Fig. 1c). The diverticular stump was identified with coronary probe, and obliterated with purse-string sutures. The diverticular sac was closed with bovine pericardium, pledget-buttressed horizontal mattress sutures and

Kabuki Syndrome—Clinical Review with Molecular Aspects

“…Juxtaductal CoA is the most common subtype observed in KS patients, sometimes considered a cardinal feature of KS [ 71 ]. CoA may be present with or without [ 69 ] other heart defects such as anomalous left pulmonary artery [ 72 ] or left ventricular diverticulum [ 73 ]. Taking the prevalence of different CHD types into account, a predominance of left-sided obstructive lesions can be observed (nearly half of all patients), e.g., Shone complex type of anomalies [ 70 ].…”

“…Surgery is commonly indicated to treat congenital cardiac anomalies in KS patients. Usually, KS patients tolerate the surgical correction of CoA well, and cardiological prognosis is positive [ 71 , 73 , 78 ]. Similarly, ASD may be repaired using minimally invasive robotic techniques, further improving KS patient postoperative quality of life [ 79 ].…”

Left ventricular diverticulum in association with bicuspid aortic valve and pseudocoarctation: Hitherto unreported association

“…2,4 These congenital diverticula are mostly associated with a number of other thoracoabdominal wall defects, including those of sternum, pericardium, and diaphragm, in particular Cantrell's syndrome. 1–5…”

“…The muscular diverticula is true congenital diverticula that arise as a tongue or finger-like outpouchings from the ventricle. 3 Pathologically, these are formed of all the three cardiac layers, namely the epicardium, myocardium and endocardium. On echocardiography, these types of diverticula are contractile and contract in synchrony with the ventricular myocardium.…”

“…On echocardiography, these types of diverticula are contractile and contract in synchrony with the ventricular myocardium. 3 Location wise too, they have a specific predilection for the apex, with the postero-basal wall and the inferior wall being the next sites in order of frequency of occurrence. 2,4 These congenital diverticula are mostly associated with a number of other thoracoabdominal wall defects, including those of sternum, pericardium, and diaphragm, in particular Cantrell's syndrome.…”