Kabuki syndrome

A study by investigators of a group of 62 patients with Kabuki syndrome reported that 31% had heart failure related to it. Since then, a series of 35 patients has been reported, of whom up to 58% had congenital heart disease.  

Type of congenital heart diseases   

Most congenital heart diseases are what we call "shunt lesions," such as atrial septal defect (a defect in the septum between the atria), ventricular septal defect (a defect in the septum between the ventricles), and patent ductus arteriosus (the persistence, after birth, of the connection that normally exists between the pulmonary arterial system and the aorta during fetal life). Ventricular septal defects and patent ductus arteriosus can be detected through auscultation of the patient’s heart, where a specific type of murmur is noted. The findings are confirmed via an echocardiogram. They are termed "shunt lesions" because there is communication between the left and right sides of the heart, leading to an excess amount of blood being pumped to the lungs. Depending on the volume, this can result in excessive blood levels in the lungs and dilation of the heart. These lesions, if they occur in isolation, can be treated using closure devices through catheterization or by more traditional surgical closure. 

Obstructive problems on the left side of the heart have also been found in 29% of cases. A particular lesion observed is called "aortic coarctation," which translates to a narrowing of the aorta, the large blood vessel that exits the heart to supply oxygen to the body. This can lead to reduced blood flow to the body and increased workload on the heart. Clinically, it can be detected if the patient exhibits a weak pulse or low blood pressure levels in the lower body compared to the upper body. Similarly, it can be diagnosed through an echocardiogram. Depending on the patient’s age and the severity of the narrowing, this issue may be addressed either with a balloon or vascular stent in the catheterization lab or through surgical widening of the narrowed area. 

There are also more severe types of heart disease that can be observed in patients with Kabuki syndrome, including tetralogy of Fallot and transposition of the great arteries. The most significant type of this anomaly is referred to as "single ventricle physiology," as it refers to the presence of a single ventricle instead of two. 

The conditions are classified as heart diseases and occur when there is a problem with how the heart forms during the early weeks of pregnancy, between six and eight weeks of gestation. Most of these heart diseases can be detected even before birth through a specialized ultrasound focused on the baby's heart, known as a "fetal echocardiogram," which is performed at 20 weeks of gestation. Some lesions, such as atrial septal defect, patent ductus arteriosus, and aortic coarctation, are difficult to detect before birth but can be observed after the baby is born using ultrasound.

Once the heart has finished forming, it is unlikely that other defects will occur. After the baby is born, another echocardiogram is performed to confirm any abnormalities noted in the fetal echocardiogram. Since these are anomalies of heart formation, no further defects should occur. The way the baby develops will depend on the specific heart condition and how well they respond to any necessary interventions.