SHM Converge Scientific Abstract ePoster Gallery-The Subtle Influence of Alpk3 Gene in Adult-Onset Hypertrophic Obstructive Cardiomyopathy

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This case report discusses the possible role of a heterozygous <strong>ALPK3 gene variant</strong> in <strong>adult-onset hypertrophic obstructive cardiomyopathy (HOCM)</strong>. Hypertrophic cardiomyopathy is usually caused by mutations in sarcomere genes, but ALPK3, a nuclear kinase involved in early cardiac development, has recently been implicated in both pediatric and adult cardiomyopathy.

The patient was a <strong>41-year-old man</strong> with <strong>end-stage renal disease, hypertension, hyperlipidemia, and hepatitis B–related liver cirrhosis</strong>, who presented with <strong>abdominal pain and weight loss</strong>. He had <strong>no chest pain, dyspnea, syncope, or family history of sudden cardiac death</strong>. Imaging revealed <strong>cardiomegaly</strong> and a <strong>moderate to large pericardial effusion</strong>. Echocardiography showed <strong>increased interventricular septal and posterior wall thickness</strong>, a <strong>left ventricular outflow tract gradient of 41 mmHg</strong>, and preserved ejection fraction. Cardiac MRI demonstrated <strong>concentric hypertrophic cardiomyopathy</strong> with <strong>maximum septal thickness of 2.0 cm</strong> and <strong>left ventricular outflow tract obstruction</strong> due to systolic anterior motion and septal thickening.

Genetic testing identified <strong>heterozygous variants in ALMS1 and ALPK3</strong>, with the ALPK3 variant considered potentially relevant. The report reviews recent studies showing that heterozygous ALPK3 variants have been associated with <strong>more severe hypertrophy</strong> and may be underrecognized in adult HCM populations. However, because ALPK3 is rare and still poorly understood, its exact causal role remains uncertain.

The authors conclude that <strong>additional research is needed</strong> to clarify the relationship between ALPK3 variants and HCM and to determine appropriate recommendations for <strong>screening and genetic counseling</strong> for patients and their families.

Asset Subtitle

Ranjit Sapkota

Meta Tag

Author List Navin Bhatt, Ranjit Sapkota, Shristi Nepal, Sunil Bogati

Category Clinical Vignettes

Concept Hypertrophic Cardiomyopathy

Concept Hypertrophic Obstructive Cardiomyopathy

Concept Sarcomere Gene

Concept ALPK3

Concept Variant of Unknown Significance

Distinguished Non-Finalist

Presenter Organization AdventHealth Orlando, Florida

Presenting Author Ranjit Sapkota

Track Adult

Keywords

ALPK3 gene variant

adult-onset hypertrophic obstructive cardiomyopathy

HOCM

hypertrophic cardiomyopathy

cardiac MRI

left ventricular outflow tract obstruction

heterozygous variant

genetic testing

screening and genetic counseling

cardiomegaly

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Sarcomere Gene

ALPK3

Variant of Unknown Significance