Different Manifestations in Familial Isolated Left Ventricular Non-compaction: Two Case Reports and Literature Review

Hamida Al Hussein,Valentin Stroe,Marius Harpa,Horatiu Suciu,Claudiu Ghiragosian,Cristina Maria Goia,Hussam Al Hussein,Carmen Elena Opris

doi:10.3389/fped.2020.00370

Abstract

Left ventricular non-compaction (LVNC) is a form of cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses which form a distinct “non-compacted” layer in the myocardium. It results from intrauterine arrest of the compaction process of the left ventricular myocardium. Clinical manifestations vary from asymptomatic to heart failure (HF), arrhythmias, or thromboembolic events. We present a case of mother and son diagnosed with isolated LVNC (ILVNC). A 4-years-old male patient, diagnosed at 3 months with ILVNC, and NYHA functional class IV HF, was admitted to the Emergency Institute for Cardiovascular Diseases and Transplantation of Targu Mures, Romania, for cardiologic reevaluation, and diagnosis confirmation. ILVNC was confirmed using echocardiography, revealing a non-compaction to compaction (NC/C) ratio of > 2.7. His evolution was stationary until the age of 8 years, when severe pneumonia caused hemodynamic decompensation, and he was listed for heart transplantation (HT). The patient underwent HT at the age of 11 years with favorable postoperative outcome. Meanwhile, a 22-years-old female patient, mother of the aforementioned patient, was also admitted to our institute due to severe fatigue, dyspnea, and recurrent palpitations with multiple implantable cardioverter defibrillator (ICD) shock delivery. Extensive medical history revealed that a presumptive ILVNC diagnosis was established when she was 11 years old. She was asymptomatic until 18 years old, when 3 months post-partum, she developed NYHA functional class III HF, and subsequently underwent ICD implantation. Her diagnosis was confirmed using multi-detector computed tomography angiography, which revealed a NC/C ratio of > 3.3. ICD adjustments were carried out with a favorable evolution under chronic drug therapy. The last evaluation, at 27 years old, revealed that she was in NYHA functional class II HF. In conclusion, ILVNC, even when familial, can present different clinical pictures and therefore requires different medical approaches.

Highlights

Left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses that communicate with the left ventricular (LV) cavity, along with two distinct layers of the ventricular myocardium: compacted and non-compacted [1,2,3,4]
The underlying genetic causes and the clinical phenotype of LVNC are heterogeneous, it has been suggested that describing LVNC along with the cardiomyopathy phenotype might be clinically useful: LVNC-dilated phenotype (LVNCDCM), LVNC-hypertrophic phenotype (LVNC-hypertrophic cardiomyopathy (HCM)), LVNCrestrictive phenotype (LVNC-RCM), LVNC- arrhythmogenic phenotype (LVNC-arrhythmogenic right ventricular cardiomyopathy (ARVC)), and LVNC with normal LV size and function [1, 7, 10]
heart failure (HF) is the most frequent complication of isolated LVNC (ILVNC) both in pediatric and adult populations [11], children seem to be more frequently asymptomatic at presentation, despite the common finding of decreased ejection fraction (EF) [12], while clinically overt symptoms of HF were more frequent in the adult population [13]

Summary

INTRODUCTION

Left ventricular non-compaction (LVNC) is a rare cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses that communicate with the left ventricular (LV) cavity, along with two distinct layers of the ventricular myocardium: compacted and non-compacted [1,2,3,4]. A 22-years-old female patient, mother of the aforementioned patient was admitted to our institute due to severe fatigue, FIGURE 1 | Summative timeline showcasing key findings of the patient’s evolution and detailed treatment (case 1). Extensive medical history was conducted by evaluating all previous medical documents revealing the following: At 11 years old, she had a presumptive diagnosis of ILVNC after a general physician detected an apical systolic murmur at routine evaluation and referred her to a cardiologist. Amiodarone was added to her oral chronic drug therapy with favorable outcome Her evolution was favorable at the following reevaluations, with no more recurrent tachycardia episodes or multiple ICD shocks related, with gradual improvement in EF and NYHA functional class.

DISCUSSION

Findings

ETHICS STATEMENT