Could My Baby's Heart Failure Be Alström Syndrome?

Infant heart failure is frightening for any family. When the cause isn't immediately clear, the search for an answer can include genetic testing — and Alström Syndrome is one of the conditions that often comes up. More than 60% of children with Alström develop dilated cardiomyopathy in infancy, sometimes as the very first sign of the condition.¹ This article explains why your baby's cardiologist may be looking at Alström and what the testing process involves.

Alström Syndrome is caused by changes in the ALMS1 gene. The protein it encodes lives in the basal body of primary cilia — antenna-like structures on cells. Cilia play roles in heart muscle development and function, and when ALMS1 protein is missing, the heart muscle can become weakened and the chambers can dilate. This is dilated cardiomyopathy (DCM).²

In Alström, the cardiomyopathy typically:

• Appears in the first few months of life
• Causes rapid breathing, poor feeding, sweating during feeds, and slow weight gain
• Often improves with standard heart-failure treatment over weeks to months
• Leaves many children with apparently normal heart function in mid-childhood
• Carries a risk of a second wave of cardiomyopathy in adolescence or adulthood (often a different pattern called restrictive cardiomyopathy)

Not all babies with Alström develop infant cardiomyopathy. Around 40% have no infantile heart involvement and are diagnosed because of other features. But for many families, the heart failure is the first event that drives evaluation.

When a baby has unexplained dilated cardiomyopathy, the typical workup includes:

• Echocardiogram — confirms the dilated, weakened ventricle
• EKG and Holter monitoring — screens for arrhythmias
• Cardiac MRI — sometimes added for more detail
• Blood tests — including troponin, BNP, lactate, and ammonia, to rule out metabolic causes
• Genetic testing — typically a panel of pediatric cardiomyopathy genes that includes ALMS1³

Most academic pediatric cardiology centers now order genetic testing as part of routine workup for unexplained pediatric cardiomyopathy. Results often return within 2–6 weeks.

Pediatric cardiologists working with neonatal teams have learned to specifically check for eye findings in babies with unexplained cardiomyopathy. Severe photophobia and nystagmus appearing in the same baby with DCM is a strong clue toward Alström. A pediatric ophthalmologist or visiting eye-clinic team can do a basic exam and order an ERG to confirm cone-rod dystrophy.⁴

If your baby is being evaluated for cardiomyopathy and an ophthalmology consultation hasn't been ordered, it's reasonable to ask:

> "Could we have a pediatric ophthalmologist examine my baby's eyes? I'd like to make sure we're checking for eye signs along with the heart workup."

Treatment in the acute phase is similar to other forms of pediatric heart failure:⁵

• ACE inhibitors (such as captopril or enalapril) to reduce afterload
• Beta-blockers (such as carvedilol) once the baby is stable
• Diuretics (such as furosemide) to reduce fluid overload
• Digoxin in some cases to support contractility
• Inotropic support in the NICU/PICU during acute decompensation

Most babies with Alström-related infant cardiomyopathy stabilize and recover heart function with this treatment. Some need short-term mechanical support; very rarely, surgical interventions like pulmonary artery banding are considered.⁶

The natural history of infant cardiomyopathy in Alström is encouraging in most cases. Many children:

• Wean off acute heart-failure therapy over weeks to months
• Show normalization of cardiac dimensions and function on follow-up echo
• Continue on a maintenance regimen of ACE inhibitor and beta-blocker for a period

A meaningful number have no residual cardiac disability after recovery from infantile cardiomyopathy. However, a second wave of heart involvement appears in some affected individuals in adolescence or adulthood, which is why lifelong cardiac surveillance is recommended.⁷

If genetic testing confirms Alström, the focus shifts to:

• A baseline workup of every Alström-affected system
• Building a multidisciplinary care team
• Connecting with a center of excellence
• Connecting with patient organizations
• Thinking about long-term care planning, including educational support as vision and hearing change

Our first steps after diagnosis guide maps out the early weeks in detail.

• Alström Syndrome Diagnosis Hub
• Early Signs of Alström Syndrome in Babies
• Dilated Cardiomyopathy in Infants With Alström Syndrome
• Heart Medications Used in Alström Syndrome
• Cardiac Monitoring Schedule for Alström Syndrome

April 30, 2026.