Go Camilo Go

Who hasn't heard Camilo's story?

     In May of 2012, Camilo's parents were excited to find out that they're expecting a baby. At 6 weeks gestation they went for their first ultrasound to confirm the pregnancy and the surprise was they were able to see the tiny and strong heartbeat on the screen which is
abnormal at this early stage. After a thorough investigations, the cardiologist confirmed that Camilo would be born with heart defect called Hypoplastic Left Heart Syndrome. 

So, what's Hypoplastic Left Heart Syndrome (HLHS)?

     It's a spectrum of cardiac malformations with normally related great arteries. Characterized by underdevelopment of the left heart with significant hypoplasia of the left ventricle including atresia, stenosis or hypoplasia of the aortic or mitral valve, or both valves, and hypoplasia of the ascending aorta and arch.

Incidence:

HLHS accounts for 2 to 3 percent of all congenital heart disease, with a prevalence rate of two to three cases per 10,000 live births in the US.

Physiology:

In patients with this condition, the left side of the heart is unable to send enough blood to the body. As a result, the right side of the heart must maintain the circulation for both the lungs and the body.

Survival is dependent on a patent ductus arteriosus (PDA) to ensure adequate systemic perfusion (from the right ventricle [RV] to the aorta), and a nonrestrictive atrial septal defect (ASD) to ensure adequate mixing of oxygenated and deoxygenated blood.

Diagnosis:

Echocardiographic imaging, whether pre-or postnatal, is sufficient in most cases to make a diagnosis of HLHS.

Neonatal presentation:

• Infants who do not have a restrictive ASD typically have a “honeymoon” period immediately after birth. They may appear normal and are occasionally discharged home. As the PDA begins to close and pulmonary vascular resistance decreases, infants become symptomatic and rapidly progressing from cyanosis, increased respiratory distress, and poor feeding to heart failure and cardiogenic shock.
• Infants with a restrictive or no ASD present at birth with severe cyanosis and respiratory distress and without the urgent creation of an adequate interatrial communication, patients will quickly develop cardiogenic shock and die.

Physical examination:

• Cyanosis is the most common feature of HLHS.
• Respiratory distress manifested by tachypnea.
• Typically, no murmur is heard during cardiac auscultation. The second heart sound is single and loud reflecting the absence of the aortic valve component. A pulmonary flow murmur may be present, and the systolic murmur of tricuspid regurgitation may also be auscultated.
• Extremities are often cool and there are diminished peripheral pulses.
• Hepatomegaly may develop in patients with right ventricular dysfunction.

Management:

• Initial medical management that ensures patency of the ductus arteriosus and an adequate atrial defect for interatrial flow and avoidance of pulmonary venous congestion.
• Surgical options include primary cardiac transplantation and staged palliative repair. However, because of the scarcity of infant donors and the improving short-term success of the staged palliative procedures, the staged repair has become the preferred surgical approach.

Initial medical management:

• Continuous intravenous prostaglandin E1 (alprostadil) (0.01 to 0.05 mcg/kg per minute) is used to maintain a PDA.
• In patients with no or restrictive ASDs, transcatheter or surgical atrial septoplasty creates a large enough opening to decompress the left atrium and provide sufficient pulmonary venous return across the atrial septum.

Surgical management:

The surgical repair of HLHS consists of three staged palliative procedures typically performed at the following ages:

• First stage (eg, Norwood procedure) is performed in neonates.
• Second stage (eg, bidirectional Glenn procedure) is typically performed at three to six months of age.
• Third stage (Fontan procedure) is typically performed at 18 to 30 months of age.

Outcome:

With medical and surgical interventions, the five-year survival rate is approaching 65 to 70 percent. However, there is significant morbidity including an increased risk of thrombotic complications, decrease in exercise tolerance, and neurodevelopmental impairment.

Source: Hypoplastic left heart syndrome, UptoDate

             Camilo's Story