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Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

Abstract：

RATIONALE:Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS:In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection. DIAGNOSIS:Homozygous FH (HoFH), CHD, and IHF. INTERVENTIONS:The patient has been treated with statin, ezetimibe, aspirin, and traditional heart failure (HF) medications. In addition, the beta-blocker was simultaneously administered. OUTCOMES:Genotypes of this proband indicated homozygous mutations of low-density lipoprotein receptor (LDLR) and some co-segregated mutations, such as von Willebrand factor (VWF) and fibroblast growth factor receptors. At 6-month follow-up, we found a decreased level of plasma lipid profile, in addition to a significant improvement in 6-minute walk distance and functional class. Echocardiography indicated nonsignificant improvements in the structure and function of the heart. LESSONS:This case report indicates that HoFH can lead to dramatically progressive endothelial damages and ventricular remodeling, severe atherosclerosis, even IHF. Genetic outcomes indicate IHF with HoFH could possibly result from LDLR mutations and some co-segregated mutations influencing endothelial function and cardiovascular remodeling. In a short-term follow-up, a combination of statins, ezetimibe, aspirin, and traditional HF agents is safe and effective for IHF with HoFH, and there is a need for further identification of drugs to ameliorate endothelial function and cardiovascular remodeling which may play an important role in long-term treatment.

journal_name

Medicine (Baltimore)

journal_title

Medicine

authors

Kuang H,Zhou X,Li L,Yi Q,Shou W,Lu T

doi

10.1097/MD.0000000000012869

subject

Has Abstract

pub_date

2018-10-01 00:00:00

pages

e12869

issue

eissn

0025-7974

issn

1536-5964

pii

00005792-201810190-00063

journal_volume

pub_type

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Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.