Figure 13A.1.1

Questions

1. What is the ECG abnormality?

2. What cardiovascular condition is likely to cause the ECG abnormality and exercise-induced syncope?

Discussion

The ECG demonstrates T-wave inversions in leads V₁–V₄. ARVD/C would most commonly be associated with these ECG findings and exercise-related syncope. Echocardiogram confirmed marked enlargement of the right ventricle with areas of dyskinesis at the apex and outflow tract. Magnetic resonance imaging demonstrated fibrofatty infiltration the RV diagnostic of ARVD/C.

Patient History

A patient was referred because of sustained monomorphic ventricular tachycardia (VT) with left bundle branch block (LBBB) morphology and superior axis. The 12-lead ECG during sinus rhythm is shown in Figure 13A.2.1, and magnification of recordings indicated by arrows in Figure 13A.2.2.

Figure 13A.2.1 12-lead ECG of normal sinus rhythm. Terminal activation duration (TAD), indicated by vertical lines in lead V₂, is with 60 ms slightly prolonged. Epsilon waves and obvious repolarization abnormalities are absent. Arrows indicate deflections at the end (lead III) or after (leads II and aVF) of QRS complex.

Figure 13A.2.2 Magnification of leads III and II, and aVF and II, respectively, showing separation of indicated deflections from QRS in aVF and II.

Questions

1. Is the diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) according to revised 2010 consensus-based Task Force Criteria (TFC) justified because of the arrhythmia and ECG during sinus rhythm?

2. What is the interpretation of deflections indicated by arrows?

Discussion, Interpretation, and Answers

Diagnosis of ARVD/C is based on major and minor criteria of the international consensus-based TFC. Either two major, one major with two minor, or four minor criteria are needed, after exclusion of alternative explanations, such as sarcoid and other diseases.¹

The VT with LBBB morphology counts for one major criterion because of the morphology with superior axis. The ECG during sinus rhythm is apparently normal, although with some remarkable features. The TAD is with 60 ms marginally prolonged, counting for maximally one minor criterion. Signals indicated by arrows give the impression of “early repolarization” in lead III, whereas in leads II and aVF separation from QRS and steep terminal upstroke suggest local inferior activation delay, similar to epsilon waves in leads V₁–V₃, which are absent in this case. Endocardial ventricular activation mapping of sinus rhythm demonstrates low-amplitude high dV/dt signals up to 150 ms after QRS onset and clearly after QRS termination in the inferior subtricuspid area (Figure 13A.2.3). This observation is in accordance with local inferior activation delay giving rise to late signals in the surface ECG, mimicking epsilon waves. Magnetic resonance imaging (MRI) confirmed right ventricular dilatation and a subtricuspid aneurysm as major TFC (Figure 13A.2.4). In addition, the pathogenic c.235C>T mutation in PKP2 was identified, which is also a major criterion. With three major and one minor criteria, the diagnosis of advanced severe ARVD/C is confirmed, despite the apparently nearly normal ECG.

Figure 13A.2.3 Recordings during endocardial activation catheter mapping of sinus rhythm. From above ECG leads I–III and V₁, bipolar electrograms from high right atrium (HRA), subtricuspid area from distal MAP1,2 and proximal MAP3,4 electrodes, and corresponding unipolar recordings MAP1 and MAP2. Vertical line indicates onset QRS complex. At 150 ms after onset QRS, and after QRS termination, a low amplitude (0.30 mV), high dV/dt signal is recorded. This signal originates from a site adjacent to the second electrode since exclusively visible in unipolar MAP2, and not in MAP1.

Figure 13A.2.4 Cardiac MRI showing subtricuspid aneurysm.

Answers

1. Combination of VT with LBBB morphology with superior axis and prolonged TAD gives only one major and one minor TFC, which is insufficient for diagnosis. Presence of major structural disease and/or the pathogenic mutation were needed for TFC diagnosis fulfillment.

2. Deflections appeared to be due to the equivalent of epsilon waves in the right precordial leads V₁–V₃, which were absent in this case. These deflections in the inferior leads are not included in the 2010 revised TFC and thus will officially not contribute to ARVD/C diagnosis. This case supports meticulous analysis of inferior leads in patients with a suspicion for ARVD/C. Finally our case challenge the concept of “early repolarization,” since the cause of these signals is most likely a depolarization abnormality.

Reference

1. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation. 2010;121:1533–1541.

Patient History

ECG during sinus rhythm from an adult patient known to have ventricular tachycardia episodes. The terminal activation duration (TAD) is defined as the longest interval between the nadir of the S wave to the end of all depolarization deflections in leads V₁–V₃. In this case, the TAD is markedly prolonged at 110 ms, indicated in lead V₂.¹

Figure 13A.3.1 12-Lead ECG of normal sinus rhythm. Depolarization and repolarization are markedly disturbed. TAD in lead V₂ is 110 ms. Arrows point to late activity signals.

Questions

1. What is the interpretation of deflections indicated by arrows in leads V₁–V₃?

2. What is the measured value of the width of the QRS complex?

3. What is the interpretation of deflections indicated by arrows in leads II, III, and aVF?

Discussion, Interpretation, and Answers

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is based on major and minor criteria of the international consensus-based 2010 revised Task Force Criteria (TFC). Either two major, one major with two minor, or four minor criteria are needed, after exclusion of alternative explanations, such as sarcoid and other diseases.²

Prolonged TAD (TAD ≥ 55 ms) is a minor TFC. Thus, TAD in this case (110 ms) means markedly prolonged. The arrows in leads V₁–V₃ point to a signal suggesting an epsilon wave. An epsilon wave is a major TFC and thus contributes more to ARVD/C diagnosis than prolonged TAD. Negative T waves in V₁–V₃ and beyond, is also a major TFC. In this case there are inverted T waves up to lead V₅. Thus, if the arrows point to an epsilon wave, and if the ECG is not related to an alternative diagnosis, the presented ECG fulfills with two major TFC already the definite ARVD/C diagnosis. However, are the indicated signals in leads V₁–V₃ epsilon waves? The epsilon wave was originally defined as “tiny signals that consistently occurred after the end of each QRS complex.”^3,4 In agreement with this definition, an epsilon wave can be defined as a distinct deflection after the end of the QRS complex, i.e., after the QRS complex had returned to the isoelectric line.¹ However, if high-amplitude signals in the QRS complex are followed by a series of low-amplitude signals, as is visible in this case, the end of the QRS complex and thus the width of the QRS complex are questionable. In addition, visibility of low-amplitude signals are dependent on filter setting and magnification. With these limitations, the interpretation of the indicated signals in leads V₁–V₃ as epsilon waves remains equivocal.⁴ However, epsilon wave always means a severe activation delay, which is correct in this case, since epsilon waves are always associated with markedly prolonged TAD. The arrows in leads II, III, and aVF point to low-amplitude signals due to activation delay in inferior parts of the ventricles. Inverted T waves in these leads are also indicative of inferior wall involvement. This ECG is very characteristic for severe and extensive ventricular disease in ARVD/C.

Answers

1. The indicated depolarization signals in leads V₁–V₃ are apparently separated from QRS and thus may be interpreted as epsilon waves. However, this separation is less clear with magnification. Important activation delay is already indicated by TAD being 110 ms.

2. QRS width is very questionable since the end of QRS complex is not well defined.

3. Deflections in leads II, III, and aVF are due to activation delay in inferior parts of the ventricles, which is not included in the revised TFC.

References

1. Cox MG, Nelen MR, Wilde AA, et al. Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Toward improvement of diagnostic ECG criteria. J. Cardiovasc. Electrophysiol. 2008;19:775–781.

2. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation. 2010;121:1533–1541.

3. Fontaine G, Guiraudon G, Frank R, et al. Simulation studies and epicardial mapping in ventricular tachycardia: Study of mechanisms and selection for surgery. In: Kulbertus HE, ed. Reentrant Arrhythmias. Philadelphia, PA: Springer; 1977:334–350.

4. Platonov PG, Calkins H, Hauer RH, et al. High interobserver variability in the assessment of epsilon waves: Implications for diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart Rhythm. 2015;15:S1547–S5271.

Patient History

Both Figures 13A.4.1 and 13A.4.2 are from two patients that show negative T waves in the precordial leads and maximum QRS voltage in the standard leads at 0.6 mV.

Figure 13A.4.1 12-lead ECG of sinus rhythm. Ventricular depolarization and repolarization abnormalities. A very tiny deflection at 150 ms after QRS onset is indicated by arrow.

Figure 13A.4.2 12-lead ECG of normal sinus rhythm. Ventricular repolarization abnormalities.

Questions

1. The P waves and QRS width in both ECGs are very different. What is the explanation?

2. The arrow in lead V₂ points to a very tiny deflection. What differentiates this very tiny deflection from artefact?

3. What is the ECG diagnosis derived from Figures 13A.4.1 and 13A.4.2, respectively? To facilitate interpretation of Figure 13A.4.2, an ECG of the patient’s sister is included in Figure 13A.4.3.

Figure 13A.4.3 12-lead ECG of sinus rhythm. Low-voltage ECG with repolarization abnormalities.

Discussion, Interpretation, and Answers

Figure 13A.4.1 shows sinus rhythm with enlargement of the terminal negative component of the P wave (larger than 1 mm²) and positive terminal component of the P wave in aVL suggesting left atrial enlargement. The QRS width is 0.12 seconds in the absence of right- or left-bundle branch block, thus indicating intraventricular conduction delay. The maximum QRS voltage in the standard leads is only 0.6 mV. The T wave in all precordial and inferior leads is inverted. This combination of left atrial enlargement with low ventricular voltages with specific ventricular depolarization and repolarization abnormalities suggests a form of dilated cardiomyopathy. The arrow points to a very tiny deflection in lead V₂. This nearly invisible deflection, recorded at 150 ms after ORS onset, is not an artefact because of reproducible recording in subsequent cycles and synchrony with a hump-like positive contour in lead V₁. The signal in lead V₂ is in that lead separated from the QRS complex conform the definition of epsilon wave (separation from QRS in only one of leads V₁–V₃ is sufficient). Due to epsilon waves and negative T waves in all precordial leads (although less than 0.1 mV in V₆), the patient has two major revised task force criteria for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) diagnosis. The extension of negative T waves to all precordial and inferior leads, the low voltage, and the left atrial enlargement indicate biventricular disease in a very advanced stage of ARVD/C. This patient, known to have ventricular tachycardia with left bundle branch block (LBBB) morphology (minor criterion), deteriorated several years after this ECG recording to end-stage disease with serious hemodynamic sequelae necessitating a cardiac transplant procedure. In addition, she was known to have a pathogenic PKP2 mutation, revealing an additional major ARVD/C criterion.

Figure 13A.4.2 in contrast shows normal P waves and QRS width. However, the maximum QRS voltage is also only 0.6 mV and also inverted T waves are recorded in all precordial leads, and in addition in leads I, II, and aVL. Symmetric negativity of all negative T waves and the high initial positivity of the QRS complex in lead V₁ may suggest coronary artery disease and posterior myocardial infarction, respectively. However, coronary angiography did not reveal evidence of coronary artery disease. This ECG may be due to a form of dilated cardiomyopathy, though in a less advanced stage. However, this patient had VT with LBBB morphology and a widened right ventricle with dyskinesia. This patient fulfills TFC for ARVD/C if imaging findings are included. Figure 13A.4.3 from the patient’s sister shows the typical feature of low voltage (maximum QRS voltage in lead II only 0.3 mV), and in addition, negative T waves in leads V₅ and V₆, suggesting left ventricular disease. However, the left ventricular ejection fraction was 62% and cine-angiography and echocardiography did not show evidence of structural disease. Nevertheless, similarity in the ECG abnormalities in both sisters suggests the possibility of a genetic disorder. The pathogenic c.40_42delAGA (p.Arg14del) founder mutation (founder mutation in The Netherlands) in the phospholamban (PLN) gene was found in both sisters.¹ This mutation is associated with a biventricular form of ARVD/C. Low QRS voltages (in the sister even without identifiable structural disease) and negative T waves in left precordial leads are characteristic features.

Answers

1. Figure 13A.4.1 is from a patient with more advanced ventricular disease with hemodynamic sequelae giving rise to left atrial enlargement, and more electrical activation delay. These features are not found in Figure 13A.4.2.

2. The arrow in lead V₂ points to a very tiny epsilon wave, illustrating the need of meticulous observation.

3. Figure 13A.4.1 is from a patient nearly in the end stage of ARVD/C, whereas in Figure 13A.4.2 the low QRS voltage, the left lateral negative T waves, and the familial occurrence (with very low QRS voltage in Figure 13A.4.3 from the sister) of these manifestations are suggestive of the typical expression of the phospholamban founder mutation.

Reference

1. Van der Zwaag PA, van Rijsingen IA, Asimaki A, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 2012;14:1199–1207.

Patient History

The patient was a 21-year-old male who had a first syncopal episode while swimming. His family history included sudden death in his father at 49 years old.

The ECG (Figure 13A.5.1) shows sinus rhythm with incomplete right bundle branch block pattern. Presence of a notch at the end of the QRS suggests an “epsilon wave” (red arrow).¹ The workup confirmed the diagnosis of arrhythmogenic right ventricular dysplasia (ARVD/C).

Figure 13A.5.1

Discussion

The epsilon wave is a small positive deflection (“blip”) buried in the end of the QRS complex.

It is the characteristic finding in ARVD/C.

The ECG changes in ARVD/C include:¹

• Epsilon wave (most specific finding, seen in 30% of patients)

• T-wave inversions in V₁–V₃ (85% of patients)

• Prolonged S-wave upstroke of 55 ms in V₁–V₃ (95% of patients)

• Localized QRS widening of 110 ms in V₁–V₃ (incomplete or complete right bundle branch block)

Reference

1. Jaoude SA, Leclercq JF, Coumel P. Progressive ECG changes in arrhythmogenic right ventricular disease: Evidence for an evolving disease. Eur. Heart J. 1996;17:1717–1722.

Patient History

A 3-lead ECG (V₁ V₂ and V₃) is taken from a 31-year-old patient with recurrent palpitations. He had no symptoms of heart disease until the age of 24, at which time he developed ventricular tachycardia. Note that the ECG was recorded at twice normal amplitude.

This ECG (Figure 13A.6.1) shows a sinus rhythm at 70 bpm with incomplete right bundle branch block pattern and a notch at the end of the QRS, known as an epsilon wave (red arrows). There is a QRS axis of +90°, a PR interval of 0.166 seconds, and QRS of 130 ms.

Figure 13A.6.1

Question

What is the diagnostic significance of the presence of an epsilon wave in V₁–V₃?

Answer

This ECG shows the presence of an epsilon wave. This is highly suggestive of ARVD/C.

Patient History

A 21-year-old male presented with several syncope episodes and frequent palpitations. He was a competitive cyclist during his teenage years and at age 16 had an onset of palpitations during exercise that lasted 5–10 minutes. His resting ECG (not shown) showed T-wave inversion in leads V₁–V₄. At age 17, he had palpitations at rest. He was hospitalized due to prolonged ventricular tachycardia (VT) at 180 bpm and was treated with cardioversion.

Figure 13A.7.1

Question

What is the most likely diagnosis of this arrhythmia?

Answer

Considering the patient’s age and presentation, the most likely diagnosis is VT.

Patients with ARVC/D can tolerate rapid VT because the left ventricle has normal hemodynamic function. This patient’s right ventricular angiogram showed outpouching in the posterior aspect of the pulmonary infundibulum (right ventricular outflow tract [RVOT]). Open-heart surgery with incision in the RVOT area was performed for treatment of his VT. Unfortunately, he had reccurrence of VT after the procedure.

Patient History

Electrical cardioversion in 1999, after palpitations while playing soccer. New cardioversion in 2003, at rest.

Medications: Amiodarone, carvedilol. Physical examination: normal. Laboratory data: normal, negative serology for Chagas disease. Echocardiography: right ventricle with important dilatation. 24 hour Holter-ECG: frequent PVCs: 8796 (7.7%). Cardiac catheterization: normal. Electrophysiological study: no arrhythmia induction.

Figure 13A.8.1

Figure 13A.8.2 QRS aspect on ECG.

Figure 13A.8.3 QRS Loop aspect on VCG between ARV, RBB, and Normal.

Other Exams

Signal-Averaged Electrocardiogram (SAECG)

Filtered QRS: 151 ms; <40 μV: 67; last 40 ms: 6.9.

Magnetic Resonance Imaging

Diastolic dimensions: 52 mm; systolic dimensions: 31 mm; LVEF: 64%; dilated right chamber: RVEF: 37%; RV outflow tract with dyskinesia.

Conclusion

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)

Discussion

ARVD/C is characterized by fatty or fibrous-fatty infiltration of the myocardium, in the right ventricle inflow and/or outflow tracts, and/or the RV apex. In its typical clinical manifestation, 40% of the affected individuals are asymptomatic. Symptoms consist of dizziness, palpitations, syncope, atypical precordial pain, dyspnea, and sudden cardiac death. ARVD/C has a familial autosomal dominant inheritance.

ARVD/C is a significant cause of sudden cardiac death among young adults, affecting 11% of the global population, 22% of athletes, with an estimated prevalence of 1:3000 to 1:5000 individuals.

In 2010, a task force¹ established new criteria for the diagnosis of ARVD/C: three major and one minor criteria, or two major and two minor criteria should be met. The criteria are the following:

Major Criteria

MRI: right ventricular akinesis, dyskinesis or dyssynchrony, RVEF ≤40%.

ECG: Epsilon waves, inverted T waves (V₁-V₃), patients >14 years old without right bundle branch block (RBBB).

Minor Criteria

ECG: inverted T waves (V₁-V₃), >14 years old with RBBB.

SAECG: late potentials (with QRS <110 ms); filtered QRS ≥114 ms); QRS duration <40 μV ≥38 ms; root mean squared last 40 ms ≤20 μV.

When should we consider ARVD/C as the diagnosis? In young individuals with premature ventricular complexes or ventricular tachycardia (VT) with LBBB morphology, negative QRS in the inferior wall.

Reference

1. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation. 2010;121(13):1533–1541.

Figure 13A.9.1 shows a wide complex tachycardia with left bundle branch block (LBBB) pattern. What is the most likely diagnosis?

Figure 13A.9.1 Spontaneous wide complex tachycardia after minor surgical procedure (43-year-old male).

Figure 13A.9.2 shows a 12-lead ECG from the same patient. What is the most likely cardiac diagnosis?

Figure 13A.9.2 43-year-old male presented with wide complex tachycardia and cardioverted.

Discussion

Figure 13A.9.1 shows a wide complex regular tachycardia with an LBBB pattern. Note the concordant negative precordial pattern as well as the right axis deviation and the R wave in aVR, all of which point to the diagnosis of ventricular tachycardia (VT). The late precordial transition and inferior axis point to a superior right ventricular free wall focus. Figure 13A.9.2 shows the 12-lead ECG after restoration of sinus rhythm. Note the incomplete right bundle branch block (RBBB) pattern as well as a clear cut epsilon wave in lead V₂ as well as the deep T-wave inversion in leads V₁ and V₂. The finding of a epsilon wave is strong evidence for the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVD/C). It may also be seen in patients with granulomatous infiltration of the right ventricle such as sarcoidosis or giant cell myocarditis.

Further evaluation should include a cardiac magnetic resonance study which is seen in Figures 13A.9.3 and 13A.9.4. The patient shows a definite aneurysmal bulge over the right ventricular out flow tract region as well as evidence of delayed enhancement, which is also a major criteria for ARVD/C. The finding of two major criteria places the patient in the definite category for ARVD/C. Since he presented with VT an automatic implantable cardioverter-defibrillator is indicated.

Figure 13A.9.3 Right ventricular outflow tract aneurysm.

Figure 13A.9.4 Delayed enhancement.

Patient History

ECG of a 61-year-old male with intermittent atrial fibrillation.

Figure 13B.1

Question

What is the ECG abnormality?

Discussion

This ECG demonstrates left ventricular hypertrophy and diffuse T-wave inversions. The patient had multiple normal echocardiograms and a normal cardiac magnetic resonance imaging (MRI) with gadolinium. Five years after these ECG changes were noted, septal thickening of 1.6 cm developed on the echocardiogram. Repeat MRI confirmed septal thickening and new gadolinium enhancement in the midseptum, diagnostic of hypertrophic cardiomyopathy (HCM). ECG changes can develop prior to imaging changes in HCM.

Patient History

A 58-year-old male was seen in consultation on the surgical service. The patient, an avid marathon runner, had gotten up during the night to eat and have a glass of water. While he was standing in his kitchen, he had syncope and found himself on the floor. He got up, went back to bed, and a few hours later got up not feeling well, and had diaphoresis and another syncopal event. The paramedics were called; on arrival at the hospital, the patient had free fluid in the abdomen, and underwent emergency surgery for a lacerated spleen.

Question

The most striking findings on the electrocardiogram include

1. An epsilon wave

2. A pseudo-delta wave

3. Abnormalities of repolarization

4. Interatrial block

Answer

3

The admission ECG (Figure 13B.2.1) shows sinus rhythm with repolarization changes consistent with early repolarization.¹ However, the patient also had marked T-wave changes, more prominent on a subsequent ECG (Figure 13B.2.2), which could be secondary to various abnormalities, including ischemia, electrolyte disorders, cardiomyopathy, and post-tachycardia. 2D echocardiograms showed hypertrophic cardiomyopathy of the apical form; the septum measured up to 1.4 cm, without obstruction, and with apical hypertrophy and severe LA dilation (100.7 mL).

Figure 13B.2.1

Figure 13B.2.2

We could not exclude that the patient may have had cardiogenic syncope associated with a ventricular tachy-arrhythmia, likely associated with repolarization abnormality. The patient underwent defibrillator implantation without receiving any shocks for VT during four years of follow-up. Subsequent ECGs over time have shown various repolarization abnormalities. Figure 13B.2.3 shows another patient with the apical form of cardiomyopathy (apical wall thickness of 17 mm, septum 12 mm) who has not had a rhythm disorder.

Figure 13B.2.3

References

1. Haïssaguerre M, Derval N, Sacher F, et al. Sudden cardiac arrest associated with early repolarization. N. Engl. J. Med. 2008;358:2016–2023.

2. Dumont CA, Monserrat L, Soler R, et al. Interpretation of electrocardiographic abnormaities in hypertrophic cardiomyopathy with cardiac magnetic resonance. Eur. Heart J. 2006;27:1725–1731.

Patient History

The patient is a 48-year-old Caucasian male of European descent who has had a renal transplant and is referred because of an abnormal ECG in the absence of hypertension or known heart disease. He denied any symptoms of ischemic heart disease, heart failure, or cardiac arrhythmias.

A nuclear stress test was negative for evidence of transient or fixed perfusion defects, but an echocardiogram demonstrated the apical variant of hypertrophic cardiomyopathy, with a maximum wall thickness of 1.9 cm in the distal septum. A cardiac MRI revealed minimal delayed hyperenhancement in the mid-distal septum (<3%).

Figure 13B.3.1 Used with permission from Junttila MJ, Castellanos A, Huikuri HV, et al. Risk markers of sudden cardiac death in standard 12-lead electrocardiograms. Ann. Med. 2012;44:717–732.

Question

Which of the following statements is correct?

1. This patient is at high risk for life-threatening arrhythmias and he should receive an ICD.

2. The electrocardiographic pattern is not typical for the apical variant of hypertrophic cardiomyopathy.

3. This electrocardiographic pattern is a common, nonspecific pattern in renal transplant patients, even in the absence of hypertension.

4. In contrast to the obstructive and mid-myocardial forms of hypertrophic cardiomyopathy, apical hypertrophic cardiomyopathy rarely has a genetic basis.

5. Apical ACM is no longer considered an entity that dominates in Asian populations.

Discussion, Interpretation, and Answer

The correct answer is 5. Early citations regarding this form of HCM suggested that it was dominant in Asian populations, but is now recognized that it is worldwide distribution although the relative incidences are not clear. This variant of HCM generally has a lower risk of sudden death than obstructive or mid-myocardial forms, although such patients should be followed over the years for any progression of disease or expression of arrhythmias.

Finally, the ECG pattern demonstrated in this patient is typical for the apical variant of hypertrophic cardiomyopathy, although there may be overlap with other patterns in more severe cases.

Patient History

A 46-year-old male with complaints of tiredness and palpitations at major effort. He denies familial or personal previous history of disease. No use of medications.

Physical Examination

Alert, oriented, hydrated, afebrile, eupneic, BP 120/80 mmHg, HR 82 bpm. No cardiovascular or respiratory abnormalities. No abnormality either in abdomen or lower limbs.

Complementary Exam

Figure 13B.4.1 ECG/VCG (at 18 years old).

ECG

Tall R waves in DI, DII, DIII, aVF, V₃ to V₆. Tall S waves in V₁ and V₂. Q waves in DII, DIII, and aVF.

VCG

QRS loop with counterclockwise rotation in the transverse plane, directed forward and leftward. Note the high voltages of QRS loops in both the transverse and the frontal planes.

Echocardiography (at 24 years old)

Severe obstructive, asymmetric septal hypertrophy, septum 3.2 cm; posterior wall 1.4 cm; septum/wall ratio = 2.2 cm.

Echocardiography (at 40 years old)

Septum and posterior wall 0.9 cm; LVDD 10.2 cm; LVSD 9.2 cm; left atrium 5.2 cm; ejection fraction 26%; severe dilated cardiomyopathy. Diffuse left and right ventricles hypokinesia.

Cardiopulmonary Exercise Test

Severely limited physical capacity, consistent with cardiac limitation.

Holter-ECG

Nonsustained ventricular tachycardia.

Coronary Cineangiography (at 40 years old)

Marked hypertensive pressures of right chambers; normal coronary arteries; dilated left ventricle, with diffuse 4+/4 hypokinesia, ejection fraction 18%.

Signal-averaged Electrocardiogram (SAECG)

Negative.

Gated-SPECT (at 25 years old)

Left ventricle hypertrophy, apical hypokinesia; left ventricle ejection fraction 76%.

Gated-SPECT (at 38 years old)

Remarkable diffuse hypokinesia. Anterior- and inferior-apical akinesia; left and right ventricle ejection fractions: 22% and 17%, respectively.

Diagnosis

Myocardial hypertrophy (hypertrophic cardiomyopathy)

Evolution

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