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An Update on Pediatric Cardiomyopathy

  • Pediatric and Congenital Heart Disease (G Singh, Section Editor)
  • Published:
Current Treatment Options in Cardiovascular Medicine Aims and scope Submit manuscript

Abstract

Purpose of review

This review summarizes the clinical characteristics and updated outcomes of primary pediatric cardiomyopathies including dilated (DCM), hypertrophic (HCM), and restrictive cardiomyopathy (RCM), and briefly discusses left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (ACM), primarily arrythmogenic right ventricular cardiomyopathy (ARVC).

Recent findings

Pediatric cardiomyopathies are diseases of the heart muscle with an estimated annual incidence of 1.1–1.5 cases per 100,000. They are progressive in nature and are frequently caused by a genetic mutation causing a structural abnormality in the myocyte. Dilated cardiomyopathy, characterized by left ventricular dilation and systolic dysfunction with normal left ventricular wall thickness, accounts for about 50–60% of all pediatric cardiomyopathy cases. This is followed by hypertrophic cardiomyopathy accounting for about 40%, characterized by abnormally thickened myocardium in the absence of another cause of hypertrophy with non-dilated left ventricle. Left ventricular non-compaction and restrictive cardiomyopathy each account for about 5% of the cases. Genetic mutations play a dominant role in the development of pediatric cardiomyopathies. While treatment for congestive heart failure and arrhythmias alleviates symptoms, it has not been shown to reduce the risk of sudden death. The 5-year transplant-free survival of DCM, HCM, RCM, and LVNC are 50%, 90%, 30%, and 60% respectively.

Summary

Pediatric cardiomyopathies while not common they are a significant cause of morbidity and mortality in afflicted children. Dilated forms are the most common followed by hypertrophic, left ventricular non-compaction, and restrictive cardiomyopathies. Arrhythmogenic cardiomyopathies tend to be diagnosed later in the teenage years. Treatment typically follows adult recommendations for which there is significantly more data on treatment benefits, although the indications for ICD placement in children remain even less clear, other than for secondary prevention.

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Abbreviations

ACTA:

Skeletal α-actin

ACTC:

Cardiac actin

ACTN2:

α-actinin

DES:

Desmin

DMD:

Dystrophin

DSC-2:

Desmocollin

DSG-2:

Desmoglein

DSP:

Desmoplakin

JUP:

Plakoglobin

LMNA:

Nuclear type A lamins

MYH6:

α-myosin heavy chain

MYH7:

β-myosin heavy chain

MYHC7:

β-myosin heavy chain

MYBPC3:

Cardiac myosin binding protein

MYL2:

Cardiac β-myosin heavy chain

MYL3:

Myosin cardiac ventricular essential light chain

MYOZ2:

Myozenin

PKP-2:

Plakophilin 2

RYR2:

Ryanodine receptor

SCN5A:

Sodium channels

TAZ:

Tafazzin

TGFβ-3:

Transforming growth factor β

TMEM43:

Response element for PPAR gamma

TNNT2:

Cardiac troponin T

TNNI3:

Cardiac troponin I

TNNC1:

Cardiac troponin C

TPM1:

Tropomyosin

TTN:

Titin

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  1. Swati Choudhry and Kriti Puri contributed equally to this work.

Authors and Affiliations

  1. Department of Pediatrics, Section of Pediatric Cardiology, Texas Children’s Hospital, Baylor College of Medicine, 6651 Main St, Houston, TX, 77030, USA

    Swati Choudhry MD, Kriti Puri MBBS & Susan W. Denfield MD

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  1. Swati Choudhry MD
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Choudhry, S., Puri, K. & Denfield, S.W. An Update on Pediatric Cardiomyopathy. Curr Treat Options Cardio Med 21, 36 (2019). https://doi.org/10.1007/s11936-019-0739-y

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