Adolescent and Adult Heart Disease in Alström Syndrome

Cardiomyopathy in Alström Syndrome doesn't necessarily end with infancy. A second pattern of heart disease can emerge in adolescence and adulthood — different in mechanism from the dilated cardiomyopathy of infancy and requiring its own management. This article covers what adolescent and adult heart disease looks like in Alström, how it's monitored, and how it's treated.

People with Alström Syndrome can experience cardiac involvement in two distinct phases:¹

Wave 1: Infant dilated cardiomyopathy

Affects more than 60% of children, typically in the first months of life. The heart muscle weakens and chambers dilate. Most children recover heart function with treatment but remain at risk for the second wave.

Wave 2: Adolescent or adult cardiomyopathy

A different pattern often emerges in adolescence or adulthood. This wave is more often restrictive in physiology — the ventricular walls become stiff and don't fill properly during diastole — though it can also present with dilated features.²

The second wave doesn't affect everyone with Alström. Roughly one in five develop later-onset cardiomyopathy, with wide individual variation.

In restrictive cardiomyopathy (RCM):

• The heart muscle becomes stiff
• The ventricles can't relax and fill normally
• Blood backs up into the lungs and the rest of the body
• Symptoms develop from impaired filling rather than from impaired pumping

Restrictive cardiomyopathy is uncommon in the general population but is a recognized late feature of Alström.³

Symptoms of adult-onset cardiomyopathy can include:

• Exercise intolerance — getting tired or short of breath with activities that used to be easy
• Shortness of breath, especially when lying flat
• Swelling in the legs or abdomen (fluid retention)
• Palpitations or irregular heartbeat
• Fatigue
• Reduced appetite
• Sometimes chest discomfort

Because cardiomyopathy can develop gradually, the symptoms may be attributed to other things at first — fitness level, busy schedule, weight changes, diabetes, anxiety. Annual cardiac surveillance is essential because it catches changes before symptoms become severe.

The 2020 international consensus guidelines recommend:⁴

• Annual echocardiogram to monitor heart structure and function
• Annual EKG
• Periodic cardiac MRI for tissue characterization (every 2–5 years for most patients, more often if changes are noted)
• Holter monitor for rhythm assessment if palpitations or arrhythmia is suspected
• Cardiopulmonary exercise testing in some patients to objectively measure exercise capacity

Surveillance frequency may increase if any signs of progression appear.

Medical therapy

Heart failure medications similar to those used in adult heart failure are mainstays:

• ACE inhibitors or ARBs (lisinopril, valsartan)
• Beta-blockers (carvedilol, bisoprolol)
• Diuretics (furosemide, spironolactone)
• Sacubitril/valsartan (Entresto) — newer combined drug for some patients with reduced ejection fraction
• SGLT2 inhibitors (dapagliflozin, empagliflozin) — increasingly used for heart failure across phenotypes

For patients with restrictive physiology specifically, treatment focuses on managing volume status and rate control. Aggressive diuresis is used cautiously because over-diuresis can compromise filling further.

Arrhythmia management

Arrhythmias can develop in adult Alström cardiomyopathy. Management includes:

• Antiarrhythmic medications
• Implantable cardioverter-defibrillator (ICD) in selected high-risk patients
• Pacemaker for bradyarrhythmias

Advanced heart failure

For patients whose cardiomyopathy progresses despite optimal medical therapy:

• Heart transplantation — appropriate for selected candidates
• Mechanical circulatory support (ventricular assist devices) — bridge to transplant or destination therapy
• Palliative care — important alongside disease-directed therapy

We cover advanced options in Heart Transplant in Alström Syndrome.

Pregnancy in women with Alström requires careful planning. Cardiomyopathy can decompensate during the volume changes of pregnancy and delivery. A multidisciplinary team including high-risk obstetrics and cardiology should be involved before conception when possible. We cover this in Pregnancy and Alström Syndrome.

Adult Alström cardiac care intersects with:

• Diabetes management — diabetes is a major cardiovascular risk factor independently
• Kidney disease — common in adult Alström and affects heart medication dosing
• Liver disease — can affect medication metabolism
• Sleep apnea — common in Alström and impacts cardiac function

A coordinated care team (or center of excellence) helps these specialists communicate.

• Dilated Cardiomyopathy in Infants With Alström Syndrome
• Heart Medications Used in Alström Syndrome
• Cardiac Monitoring Schedule for Alström Syndrome
• Heart Transplant in Alström Syndrome
• Living With a Heart Condition: Daily Tips for Adults With Alström

April 30, 2026.