Understanding Calcification in Arteries and/or Heart in Infants

Calcification in arteries and/or the heart in infants is a rare but serious medical condition that can pose life-threatening risks if not diagnosed and treated early. This condition involves the buildup of calcium deposits in the blood vessels and cardiac tissues of babies, sometimes detectable even before birth. While vascular calcification is typically associated with aging adults, in infants, it often signals a rare genetic disorder such as Generalized Arterial Calcification of Infancy (GACI).

For families navigating this complex and frightening diagnosis, Brighter Hope Foundation is a vital resource offering information, connection, and support.

What Is Calcification in the Arteries or Heart in Infants?

In healthy infants, arteries and heart tissues are soft and flexible to allow proper blood flow and cardiovascular function. However, in certain rare genetic conditions, calcium begins to accumulate in the arterial walls or heart structures. This process is referred to as vascular calcification and can severely compromise circulation and heart function.

Common sites of calcification in infants include:

  • Large and medium-sized arteries (especially the aorta)
  • Coronary arteries
  • Pulmonary arteries
  • Heart valves (especially the aortic or mitral valves)

These calcifications can cause the arteries to stiffen, narrow, or even become blocked, leading to reduced oxygen delivery to vital organs. In the heart, calcification may impair valve function or contribute to heart failure.

Conditions That Cause Arterial or Heart Calcification in Babies

The most recognized cause of arterial calcification in infants is a rare genetic condition called Generalized Arterial Calcification of Infancy (GACI). GACI is most often caused by mutations in either the ENPP1 gene—referred to as ENPP1 Deficiency—or the ABCC6 gene—known as ABCC6 Deficiency. The condition frequently presents prenatally, at birth, or within the first few weeks of life.

GACI is characterized by:

  • Diffuse calcification of arteries
  • Hypertension
  • Heart enlargement or failure
  • Respiratory difficulties
  • Reduced or absent pulses
  • Accumulation of fluid in the extremities
  • Joint calcification
  • Arterial stenoses
  • Intimal hyperplasia

Another related condition, ARHR2, caused by ENPP1 mutations, may manifest later in childhood with rickets symptoms and ongoing vascular abnormalities.

Early Signs and Diagnosis

Symptoms of calcification in the arteries or heart in babies can be subtle or severe. Parents and healthcare providers should be alert to:

  • Rapid breathing or labored respiration
  • High blood pressure in newborns
  • Cyanosis (bluish skin tone)
  • Poor feeding or failure to thrive
  • Enlarged heart or abnormal heart sounds

Diagnosis typically involves imaging techniques such as:

  • Echocardiograms (to detect calcification and assess heart function)
  • CT scans or X-rays (to visualize arterial calcifications)
  • Genetic testing to confirm suspected disorders like ENPP1 Deficiency or ABCC6 Deficiency

Why Awareness Matters

Many pediatricians and neonatologists are unfamiliar with GACI and similar conditions due to their rarity. That’s why raising awareness about vascular calcification in infants is critical. Prompt recognition can mean the difference between early intervention and delayed diagnosis, which may have serious outcomes.

Learn More and Connect

If your family has been affected by arterial or heart calcification in a baby or young child, know that you are not alone. Read about our clinical trials and community resources to connect with other families, and become part of a community dedicated to saving and improving lives.