Cardiovascular Issues in 22q11.2 Deletion Syndrome (22q11DS)

22q11.2 deletion syndrome (22q11DS), the genetic disorder caused by a microdeletion on chromosome 22, presents with a wide range of clinical manifestations, including significant cardiovascular abnormalities. Cardiovascular defects are common in 22q11DS, involving nearly 75% of individuals, and can vary from mild to severe.

CONGENITAL HEART DEFECTS

Congenital heart defects are the most common cardiological issues in 22q11DS. These defects are present in the majority of affected individuals and are often severe, requiring early intervention. The most frequent heart defects include:

• Tetralogy of Fallot: This is the most common congenital heart defect in 22q11DS, accounting for a significant proportion of cases. TOF consists of four abnormalities: a ventricular septal defect (VSD), right ventricular outflow tract obstruction, right ventricular hypertrophy, and an overriding aorta. Surgical correction is typically needed in early childhood, with ongoing follow-up to monitor for complications such as arrhythmias.
• Truncus Arteriosus: This defect occurs when a single arterial vessel arises from the heart, instead of the usual two separate vessels (the pulmonary artery and aorta). It results in a mixing of oxygenated and deoxygenated blood, leading to cyanosis. Truncus arteriosus is often seen in 22q11DS and requires prompt surgical intervention shortly after birth. If left untreated, it can lead to heart failure and severe complications.
• Interruption of the Aortic Arch: Another serious defect, this condition involves a discontinuity in the aortic arch, which disrupts blood flow to the body. Surgery is required to re-establish proper circulation in early infancy.
• Ventricular Septal Defects: VSDs are common in 22q11DS and can be isolated or present alongside other structural defects. Depending on the size and location, some VSDs may resolve on their own, while others require surgical closure.

CARDIAC ARRHYTHMIAS 

Individuals with 22q11DS, especially those with congenital heart defects like TOF or truncus arteriosus, are at increased risk of cardiac arrhythmias. These can include both atrial and ventricular arrhythmias, which may cause symptoms such as palpitations, dizziness, or syncope. The risk of arrhythmias persists throughout life, requiring regular cardiac evaluations and, in some cases, interventions like pacemaker implantation.

VASCULAR ABNORMALITIES

In addition to heart defects, individuals with 22q11DS often have vascular anomalies, including abnormal branching of the great arteries and pulmonary arteries. These abnormalities may complicate surgical procedures and increase the risk of vascular-related complications.

LONG-TERM CARDIAC CARE

Patients with 22q11DS and congenital heart defects need lifelong follow-up with a cardiologist. As they age, they may develop complications such as heart failure, arrhythmias, or aortic dilation. Regular imaging, such as echocardiograms and MRIs, is essential for monitoring heart function and detecting any changes that could require intervention.

In all these instances, early diagnosis and comprehensive care are crucial to improve outcomes and prevent severe complications.