Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with GACI]. - GeneReviews®

System/Concern	Evaluation	Comment
Cardiovascular	Referral to a pediatric cardiologist	Incl: EKG & echocardiogram Assessment of blood pressure ¹ & peripheral pulses
CT of chest, abdomen, & pelvis	To evaluate extent & distribution of vascular calcification
Serum levels of cardiac-specific troponin T or troponin I	Assess for evidence of myocardial ischemia.
Skeletal	Skeletal radiographs	As needed to assess for periarticular calcification or cervical spine fusion
Mineral metabolism	Metabolic workup incl: Serum creatinine Serum phosphorus Urine phosphorus Urine creatinine Alkaline phosphatase Serum calcium Serum PTH	To evaluate for evidence of hypophosphatemic rickets by measuring: Tubular reabsorption of phosphate Ratio of renal tubular maximum reabsorption rate of phosphate to GFR
Hearing loss	Audiology assessment	Evaluate for conductive or sensorineural hearing loss.
Genetic counseling	By genetics professionals ²	To inform patients & families re nature, MOI, & implications of GACI in order to facilitate medical & personal decision making
Family support/ resources	Assess: Use of community or online resources such as Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.

System/Concern

Evaluation

Comment

Cardiovascular

Referral to a pediatric cardiologist

Incl:

EKG & echocardiogram
Assessment of blood pressure ¹ & peripheral pulses

CT of chest, abdomen, & pelvis

To evaluate extent & distribution of vascular calcification

Serum levels of cardiac-specific troponin T or troponin I

Assess for evidence of myocardial ischemia.

Skeletal

Skeletal radiographs

As needed to assess for periarticular calcification or cervical spine fusion

Mineral
metabolism

Metabolic workup incl:

Serum creatinine
Serum phosphorus
Urine phosphorus
Urine creatinine
Alkaline phosphatase
Serum calcium
Serum PTH

To evaluate for evidence of hypophosphatemic rickets by measuring:

Tubular reabsorption of phosphate
Ratio of renal tubular maximum reabsorption rate of phosphate to GFR

Hearing loss

Audiology assessment

Evaluate for conductive or sensorineural hearing loss.

Genetic
counseling

By genetics professionals ²

To inform patients & families re nature, MOI, & implications of GACI in order to facilitate medical & personal decision making

Family support/
resources

Assess:

Use of community or online resources such as Parent to Parent;
Need for social work involvement for parental support;
Need for home nursing referral.

From: Generalized Arterial Calcification of Infancy

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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