Abstract
Background
Hypertrophic cardiomyopathy is characterized by cardiac myocyte hypertrophy leading to ventricular hypertrophy and can lead to heart failure and sudden cardiac death in pediatric patients.
Aim of review
To present a case of hypertrophic cardiomyopathy initially presenting with papilledema and visual symptoms, highlighting the importance of early recognition and genetic screening.
Key scientific concepts of review
A 4-year-old boy presented with visual symptoms and papilledema. Initial evaluation revealed sinus bradycardia, left bundle branch block, left ventricular hypertrophy with abnormal repolarization, and biatrial enlargement on electrocardiogram. Echocardiography demonstrated severe interventricular septal hypertrophy (thickness, 1.5 cm; z score, +5.2) consistent with obstructive hypertrophic cardiomyopathy. The patient developed syncope with documented atrioventricular block Mobitz type II and progressive ventricular tachycardia, ultimately requiring heart transplantation. Genetic testing identified a pathogenic MYH7 (β-myosin heavy chain) gene mutation. This case emphasizes that hypertrophic cardiomyopathy may present with seemingly unrelated symptoms and underscores the importance of family genetic screening, prenatal counseling, and testing.
Highlights
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First reported case of hypertrophic cardiomyopathy (HCM) in a child presenting with papilledema
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Rapid progression from initial presentation to heart transplant within 3 months
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Patient had MYH7 gene mutation associated with severe HCM.
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Case highlights importance of considering cardiac causes for seemingly unrelated symptoms.
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Emphasizes need for genetic screening in family members of HCM patients
1
Introduction
Hypertrophic cardiomyopathy (HCM) is a disease with irregular and asymmetric cardiac myocyte hypertrophy leading to left ventricular hypertrophy [ ]. HCM has a prevalence of 1:500 in people aged 6 to 21 y [ ] and an annual incidence of 0.21/100,000 in children aged 1 to 5 y [ ], and it is the most common cause of sudden cardiac death in children [ ]. HCM typically is an inherited disease with autosomal dominance and variable expression [ ], but de novo cases also have been identified. The interventricular septum typically is affected, and severe hypertrophy leads to obstruction of blood flow. The disease process may range from asymptomatic disease to progressive heart failure, outflow tract obstruction, and sudden death [ ].
Diagnosis of HCM can be challenging in asymptomatic patients. The etiology and prognosis vary with multiple factors such as age, symptoms, signs, severity at presentation, anatomic variants, and genetic predisposition [ ]. However, a literature search showed no previous cases of HCM in children presenting with papilledema.
We treated a patient who presented with papilledema and had rapidly progressive HCM requiring heart transplant. The purpose of this article is to report this rare presentation of this condition and alert clinicians about the uncommon association between papilledema and HCM in children.
2
Case
A healthy boy aged 4 years developed blurry vision and intermittent episodes of nausea and vomiting with no acute findings over 1 year. Past medical history was noncontributory. He was referred by his primary care provider to an ophthalmologist who observed bilateral papilledema. His ophthalmologist evaluated the papilledema repeatedly over a period of 2–3 months with no resolution. The patient was then referred to the pediatric emergency department for optic magnetic resonance imaging (MRI) to rule out elevated intracranial pressure.
Initial vital signs showed marked variability in heart rate, fluctuating between tachycardia (152/min) and bradycardia (50–60/min) during the emergency department stay. Other vital signs included temperature 36.7 °C, respiratory rate 30/min, blood pressure 82/57 mmHg, and oxygen saturation 100 % on room air. Physical examination in the emergency department was within normal limits except for the heart rate variability, with no cardiac murmur evident. Telemetry showed abnormal wide spaced QRS morphology. An electrocardiogram showed sinus rhythm, left bundle branch block, left ventricular hypertrophy with abnormal repolarization, and biatrial enlargement ( Fig. 1 ). Chest radiography showed mild cardiomegaly. Troponin (72 pg/mL) and N-terminal pro–B-type natriuretic peptide levels (1215 pg/mL) were elevated.
A complete echocardiogram showed moderate to severe interventricular septal hypertrophy (thickness, 1.5 cm; z score, +5.2) consistent with HCM without left ventricular outlet tract obstruction at rest. There was a brief systolic anterior motion of the mitral valve noted at rest ( Figs. 2 / 3 ). Optic MRI was not performed because of potential cardiac complications associated with sedation, and β-blockers were not given because of the presence of marked intermittent bradycardia at baseline. As the patient had no cardiovascular symptoms and appeared stable, he was discharged to home with a Holter monitor for further evaluation and outpatient follow-up.
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