Isolated left ventricular apical hypoplasia: Systematic review and analysis of the 37 cases reported so far

Table 1 List of the case reports and case series which have been published in the field

Ref.	Patient’s age (yr)	Patient’s gender	Clinical presentation	Electrocardiogram	Echocardiography	MRI	Associated cardiac abnormalities	Therapy	Outcome
Dattani et al[8]	64	Male	Shortness of breath (NYHA III)	Complete left bundle branch block	Severe LV systolic dysfunction with global hypokinesis	Yes	Hypertension, hypercholesterolaemia and asthma	Furosemide, perindopril, bisoprolol and anticoagulation for the suspected mural thrombus	CRT
Chaowu et al[9]	22	Female	Palpitations	Atrial fibrillation, right axis deviation and T-wave abnormality	EF not reported	Yes	Dextro-transposition of the great vessels, patency of ductus arteriosus	Not reported	Serial follow-up
Vanhecke et al[5]	53	Female	Palpitations	Normal sinus rhythm, inferolateral T wave abnormalities and poor R wave progression	Severe LV systolic dysfunction (EF 35%), mitral valve regurgitation	Yes	Hypertension	Ace inhibitor, beta-blocker, and diuretics	Serial follow-up
Meléndez et al[10]	9	Female	Heart murmur. No symptoms	Not done	EF not reported	Yes	None	None	Serial follow-up
Marin et al[4]	3 months	Male	No symptoms	Not done	EF not reported	Yes	None	None	Serial follow-up
Patrianakos et al[11]	11	Female	Asymptomatic	Right axis deviation and decreasing R wave in precordial leads beyond V3	Mild-to-moderate decreased contractility with a restrictive filling pattern and mild mitral regurgitation	Yes	None	None	Serial follow-up
	35	Female	Previous peripartum pulmonary oedema	P mitrale, left axis deviation and decreasing R wave in precordial leads beyond V3	Mild-to-moderate decreased contractility with a restrictive filling pattern and mild mitral regurgitation	Yes	Atrial fibrillation	ACE inhibitor, beta blocker, and low-dose furosemide	Serial follow-up
Irving et al[7]	19	Male	Chest pain and palpitations	Atrial flutter and then ventricular fibrillation	LV systolic and diastolic function was severely impaired and RV function was also poor	Not done	Atrial and ventricular arrhythmias, refractory pulmonary hypertension	inotropic support (adrenaline, milrinone and vasopressin), inhaled nitric oxide and intravenous prostacyclin	Death
Braga et al[6]	66	Female	Atypical chest pain	Complete left bundle branch block	Mild LV systolic dysfunction (EF 48%), abnormal interventricular septal motion and elongated RV	Yes	Hypertension, dyslipidaemia and stable angina	None	Serial follow-up
Motwani et al[2]	63	Male	Exertional dyspnoea	Atrial fibrillation	Severely impaired LV systolic function	Yes	None	DC shock	Serial follow-up
Moon et al[3]	33	Male	Heart murmur. No symptoms	Right axis deviation, incomplete right bundle branch block, right atrial enlargement and RV hypertrophy	Good global LV systolic function	Yes	Mild infundibular pulmonary stenosis and moderate-to-severe aortic stenosis	None	Serial follow-up
Alizadeh Sani et al[12]	13	Male	Shortness of breath and chest discomfort	Right axis deviation and a low precordial voltage with poor R-wave progression	Severe LV systolic dysfunction, moderate mitral regurgitation, and enlarged left atrium	Yes	Developmental delay, family history of sudden cardiac death	Standard drugs for systolic heart failure	Serial follow-up
Zhao et al[13]	19	Male	Heart murmur. No symptoms	Right-axis deviation, poor R wave progression, and T wave abnormalities	Mild LV systolic dysfunction	Yes	RV outflow tract obstruction due to exaggerated rightward bulging of the basal-anterior septum during systole	ACE inhibitor and beta-blocker	Serial follow-up
Starmer et al[14]	62	Male	Shortness of breath	Atrial fibrillation and poor precordial R-wave progression	Severe LV systolic dyfunction	Yes	None	Standard heart failure therapy	Serial follow-up
Fernandez-Valls et al[1]	22	Female	Fatigue	Right axis deviation and low precordial voltages with poor R wave progression	Mild LV systolic dysfunction, moderate mitral regurgitation	Not done	None	Not reported	Serial follow-up
	46	Female	Shortness of breath	Right axis deviation and low precordial voltages with poor R wave progression	Mild-to-moderate LV systolic dysfunction	Yes	None	Not reported	Serial follow-up
	26	Male	Chest discomfort	Right axis deviation and low precordial voltages with poor R wave progression	Moderate-to-severe LV systolic dysfunction, moderate mitral regurgitation	Yes	None	Not reported	Serial follow-up
Hong et al[15]	34	Female	Chest discomfort	Q wave in leads V1-V4	Mild systolic dysfunction (EF 44%)	Yes	None	ACE inhibitor	Serial follow-up
Ding et al[16]	22	Female	Lethargy and shortness of breath	Fragmented QRS and undetermined axis	Severe LV systolic dysfunction	Yes	Non sustained ventricular tachycardia	Not reported	Serial follow-up
Orsborne et al[17]	17	Female	Chest pain	Not done	Normal LV systolic function	Yes	None	Not reported	Serial follow-up
Tumabiene et al[18]	21	Female	Severe respiratory distress	Atrial flutter	Mild LV systolic dysfunction	Yes	None	ACE inhibitor, beta blocker, diuretics	Serial follow-up
Ong et al[19]	11	Female	Heart murmur. Asymptomatic	Normal ECG	Normal LV systolic function	Yes	None	None	Serial follow-up
Flett et al[20]	37	Female	Pulmonary oedema	Left bundle branch block	Not reported	Yes	Non sustained ventricular tachycardia	Ace inhibitor, beta blocker, diuretics, amiodarone, coumarin	Serial follow-up
Meng et al[21]	24	Female	Exercise intolerance	Atrial fibrillation, right axis deviation, and T wave abnormalities	Severe LV systolic dysfunction (EF 34%), bi-atrial enlargement, mild-to-moderate mitral valve regurgitation	Yes	PDA, severe pulmonary hypertension	Anti-pulmonary hypertension agents	Serial follow-up
	5	Female	Exercise intolerance	Right axis deviation, and T wave abnormalities	Normal LV systolic function	Yes	None	None	Serial follow-up
	3	Male	Asymptomatic	T wave abnormalities	Normal LV systolic function	Yes	None	None	Serial follow-up
	13	Male	Asymptomatic	T wave abnormalities	Normal LV systolic function	Yes	None	None	Serial follow-up
	15	Male	Asymptomatic	T wave abnormalities	Normal LV systolic function, enlarged left atrium	Yes	PDA, severe pulmonary hypertension	Anti-pulmonary hypertension agents	Serial follow-up
Haffajee et al[22]	50	Male	Asymptomatic	Non-specific intraventricular conduction delay with lateral T-wave abnormal	Severe LV systolic dysfunction	Yes	PDA, S/P ligation	ACE inhibitor, beta blocker	Serial follow-up
Liao et al[23]	18	Male	Shortness of breath	Atrial fibrillation and left ventricular hypertrophy	Severe LV systolic dysfunction (EF 27%), mild mitral regurgitation	Yes	None	ACE inhibitor, beta blocker, diuretics, trimetazidine, levocarnitine	Serial follow-up
	2	Female	Asymptomatic	Normal ECG	Normal LV systolic function, mild mitral regurgitation	Yes	None	None	Serial follow-up
Maidman et al[24]	58	Male	Bradycardia and lightheadedness	Sinus bradycardia, right axis deviation, low QRS voltages, mild intraventricular delay	Mildly reduced LV systolic function (EF 45%)	Yes	Not reported	Not reported	Not reported
Ramamurthy et al[25]	16 months	Male	Asymptomatic	Raised ST segment, T wave inversion and q waves in lateral leads	Normal LV systolic function	Yes	None	None	Serial follow-up
Choh et al[26]	2	Male	Dyspnoea	Not reported	Normal LV systolic function	Yes	None	ACE inhibitor, beta blocker, diuretics	Serial follow-up
Skidan et al[27]	32	Male	Dyspnoea	Atrial fibrillation	Severe LV systolic dysfunction	Yes	LV non compaction	Ablation, ICD	Serial follow-up
Schapiro et al[28]	17	Male	Asymptomatic	Sinus bradycardia and nonspecific T wave changes	LV Systolic function not reported	Yes	None	Not reported	Serial follow-up
Mirdamadi et al[29]	19	Not reported	Mild dyspnoea	Normal ECG	Normal LV systolic function	Not done	None	None	Serial follow-up

MRI: Magnetic resonance imaging; NYHA: New York Heart Association functional class; LV: Left ventricle; CRT: Cardiac resynchronization therapy; EF: Ejection fraction; ACE: Angiotensin converting enzyme; RV: Right ventricle; DC: Direct current; ECG: Electrocardiogram; PDA: Patent ductus arteriosus.